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Journal articles on the topic 'Sh3tc2'

Author: Grafiati

Published: 30 November 2024

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1

Wu, Huili, Feifei Chu, Lu Li, Kunkun Li, Xingguo Xiao, Li Zhang, and Yong Zhang. "Up-Regulation of SH3TC2 Induced by YTHDF1 Predicts Poor Outcome and Facilitates Cell-Cycle Progress in Colorectal Cancer." Journal of Oncology 2022 (December 15, 2022): 1–25. http://dx.doi.org/10.1155/2022/1600611.

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N6-methyladenosine (m6A) modification plays a crucial role in determining the fate and function of RNA transcripts in tumor cells. Nevertheless, how m6A regulates the expression of key molecules and coordinates its involvement in the development of colorectal cancer (CRC) remains largely unclear. Here, we report that the m6A reading protein YTHDF1-mediated up-regulation of SH3TC2 promotes CRC growth both in vitro and in vivo. In a pan-cancer analysis across more than thirty types of cancer, we found that SH3TC2 was dysregulated in nine cancers, including BLCA, CHOL, COAD, LAML, PAAD, READ, SKCM, BRCA, and TGCT, and was closely associated with patient prognosis in four cancers, including COAD, MESO, PAAD, and READ. In particular, SH3TC2 was overexpressed in CRC as confirmed by six independent study cohorts. Clinically, high expression of SH3TC2 predicted worse disease-free survival (DFS) in CRC patients. SH3TC2 showed fascinating diagnostic value and was correlated with immunosuppression in CRC. Functionally, RNA-sequencing combined with experiments revealed that knockdown of SH3TC3 significantly inhibited cell-cycle progress of CRC, impairing cell growth. Mechanistically, YTHDF1 protein directly binds with SH3TC2 mRNA and promotes its elevation in an m6A-dependent manner. Thus, our findings provide a mechanism to target the YTHDF1/SH3TC2 axis for CRC therapy.

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2

Huang, Chengzhi, Hui Yi, Yue Zhou, Qing Zhang, and Xueqing Yao. "Pan-Cancer Analysis Reveals SH3TC2 as an Oncogene for Colorectal Cancer and Promotes Tumorigenesis via the MAPK Pathway." Cancers 14, no. 15 (July 31, 2022): 3735. http://dx.doi.org/10.3390/cancers14153735.

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SH3 domain and tetrapeptide repeat 2 (SH3TC2) is a protein-encoding gene and has previously been described as a critical signaling hub for neurological disorders. Although increasing evidence supports a vital role of SH3TC2 in the tumorigenesis of various kinds of cancer, no systematic analysis of SH3TC2 is available. The function and mechanism of SH3TC2 in other cancers remain unknown. Thus, this study aimed to analyze SH3TC2 in various kinds of cancer to find its tumorigenic role in one or more specific cancers. In the current study, we analyzed the expression level and prognostic value of SH3TC2 in different tumors in the TCGA-GTEx pan-cancer dataset. Subsequently, the prognostic role and mechanism of SH3TC2 in colorectal cancer (CRC) were further explored via clinical samples and in vitro and in vivo experiments. We observed differential expression of SH3TC2 in colon adenocarcinoma (COAD), acute myeloid leukemia (LAML), READ (rectum adenocarcinoma), SKCM (skin cutaneous melanoma), and TGCT (testicular germ cell tumors). Subsequently, SH3TC2 showed a significant effect on the clinical stage and prognostic value in CRC, LAML, and SKCM. Moreover, we found in the TCGA database and seven GEO datasets that SH3TC2 was significantly highly expressed in tumor tissue. Through enrichment analysis of SH3TC2 and its co-expressed genes, we found that SH3TC2 may play a role in the MAPK signaling pathway. Correlation analysis indicated that SH3TC2 was significantly associated with multiple key factors in the MAPK signaling pathway. Additionally, higher expression of SH3TC2 was found in tumor tissue in our cohort including 40 CRC patients. Overexpression of SH3TC2 may imply poor prognosis. Knockdown of SH3TC2 significantly inhibited tumor invasion, migration, and proliferation. More importantly, knockdown of SH3TC2 inhibited tumor growth in a CRC mouse model. The study preliminarily conducted a pan-cancer study of SH3TC2 and further explored the mechanism of SH3TC2 in CRC. Our research revealed that higher expression of SH3TC2 may promote CRC progression and invasion via the MAPK signaling pathway.

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Loret, Camille, Amandine Pauset, Pierre-Antoine Faye, Valérie Prouzet-Mauleon, Ioanna Pyromali, Angélique Nizou, Federica Miressi, et al. "CRISPR Base Editing to Create Potential Charcot–Marie–Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring SH3TC2 Variants." Biomedicines 12, no. 7 (July 12, 2024): 1550. http://dx.doi.org/10.3390/biomedicines12071550.

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Human induced pluripotent stem cells (hiPSCs) represent a powerful tool to investigate neuropathological disorders in which the cells of interest are inaccessible, such as in the Charcot–Marie–Tooth disease (CMT), the most common inherited peripheral neuropathy. Developing appropriate cellular models becomes crucial in order to both study the disease’s pathophysiology and test new therapeutic approaches. The generation of hiPS cellular models for disorders caused by a single nucleotide variation has been significantly improved following the development of CRISPR-based editing tools. In this study, we efficiently and quickly generated, by CRISPR editing, the two first hiPSCs cellular models carrying alterations involved in CMT4C, also called AR-CMTde-SH3TC2. This subtype of CMT is associated with alterations in the SH3TC2 gene and represents the most prevalent form of autosomal recessive demyelinating CMT. We aimed to develop models for two different SH3TC2 nonsense variants, c.211C>T, p.Gln71* and the most common AR-CMTde-SH3TC2 alteration, c.2860C>T, p.Arg954*. First, in order to determine the best CRISPR strategy to adopt on hiPSCs, we first tested a variety of sgRNAs combined with a selection of recent base editors using the conveniently cultivable and transfectable HEK-293T cell line. The chosen CRISPR base-editing strategy was then applied to hiPSCs derived from healthy individuals to generate isogenic CMT disease models with up to 93% editing efficiency. For point mutation generation, we first recommend to test your strategies on alternative cell line such as HEK-293T before hiPSCs to evaluate a variety of sgRNA-BE combinations, thus boosting the chance of achieving edited cellular clones with the hard-to-culture and to transfect hiPSCs.

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4

Cipriani, Silvia, Vietxuan Phan, Jean-Jacques Médard, Rita Horvath, Hanns Lochmüller, Roman Chrast, Andreas Roos, and Sally Spendiff. "Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C." International Journal of Molecular Sciences 19, no. 12 (December 17, 2018): 4072. http://dx.doi.org/10.3390/ijms19124072.

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The neuromuscular junction (NMJ) appears to be a site of pathology in a number of peripheral nerve diseases. Charcot-Marie-Tooth (CMT) 4C is an autosomal recessive, early onset, demyelinating neuropathy. Numerous mutations in the SH3TC2 gene have been shown to underlie the condition often associated with scoliosis, foot deformities, and reduced nerve conduction velocities. Mice with exon 1 of the Sh3tc2 gene knocked out demonstrate many of the features seen in patients. To determine if NMJ pathology is contributory to the pathomechanisms of CMT4C we examined NMJs in the gastrocnemius muscle of SH3TC2-deficient mice. In addition, we performed proteomic assessment of the sciatic nerve to identify protein factors contributing to the NMJ alterations and the survival of demyelinated axons. Morphological and gene expression analysis of NMJs revealed a lack of continuity between the pre- and post-synaptic apparatus, increases in post-synaptic fragmentation and dispersal, and an increase in expression of the gamma subunit of the acetylcholine receptor. There were no changes in axonal width or the number of axonal inputs to the NMJ. Proteome investigations of the sciatic nerve revealed altered expression of extracellular matrix proteins important for NMJ integrity. Together these observations suggest that CMT4C pathology includes a compromised NMJ even in the absence of changes to the innervating axon.

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5

Pyromali, Ioanna, Nesrine Benslimane, Frédéric Favreau, Cyril Goizet, Leila Lazaro, Martine Vitry, Paco Derouault, Franck Sturtz, Corinne Magdelaine, and Anne-Sophie Lia. "From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene." Journal of Personalized Medicine 12, no. 2 (February 3, 2022): 212. http://dx.doi.org/10.3390/jpm12020212.

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Next-generation sequencing (NGS) allows the detection of plentiful mutations increasing the rate of patients getting a positive diagnosis. However, while single-nucleotide variants (SNVs) or small indels can be easily detected, structural variations (SVs) such as copy number variants (CNVs) are often not researched. In Charcot–Marie–Tooth disease (CMT), the most common hereditary peripheral neuropathy, the PMP22-duplication was the first variation detected. Since then, more than 90 other genes have been associated with CMT, with point mutations or small indels mostly described. Herein, we present a personalized approach we performed to obtain a positive diagnosis of a patient suffering from demyelinating CMT. His NGS data were aligned to the human reference sequence but also studied using the CovCopCan software, designed to detect large CNVs. This approach allowed the detection of only one mutation in SH3TC2, the frequent p.Arg954*, while SH3TC2 is known to be responsible for autosomal recessive demyelinating CMT forms. Interestingly, by modifying the standard CovCopCan use, we detected the second mutation of this patient corresponding to a 922 bp deletion in SH3TC2 (Chr5:148,390,609-Chr5:148,389,687), including only one exon (exon 14). This highlights that SVs, different from PMP22 duplication, can be responsible for peripheral neuropathy and should be searched systematically. This approach could also be employed to improve the diagnosis of all inherited diseases.

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Shin, Je-Young, and Jong-Mok Lee. "A homozygous SH3TC2 mutation in a Korean patient with Charcot–Marie–Tooth disease type 4C." Neurology Asia 26, no. 4 (September 2021): 835–37. http://dx.doi.org/10.54029/2021vfs.

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Charcot–Marie–Tooth disease type 4C (CMT4C) is an autosomal recessive neuropathy associated with SH3TC2 mutations, resulting in slow conduction velocity via hypomyelination. The occurrence of CMT4C in demyelinating Charcot–Marie–Tooth (CMT) varies among ethnicities, and several variants have been reported as the founder mutation. In Korea, the incidence of CMT4C was calculated as approximately 2%, and all patients have compound heterozygous mutations, which is partly due to the prohibition of consanguineous marriage. Herein, we describe a 25-year-old male who presented a slowly progressive limb weakness and impaired vibration sensation. Whole-exome sequencing revealed homozygous variants c.929G>A of SH3TC2 after identifying negative multiplex ligation-dependent probe amplification results of PMP22. Based on our literature review, this is the first CMT4C patient with a homozygous variant with each allele inherited from both the parents.

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7

Gouttenoire, Estelle Arnaud, Vincenzo Lupo, Eduardo Calpena, Luca Bartesaghi, Fanny Schüpfer, Jean-Jacques Médard, Fabienne Maurer, et al. "Sh3tc2 deficiency affects neuregulin-1/ErbB signaling." Glia 61, no. 7 (April 2, 2013): 1041–51. http://dx.doi.org/10.1002/glia.22493.

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8

Bunting, EE, and MP Lunn. "209 ‘How rare do we dare’ – hickam’s dictum taken to the extreme." Journal of Neurology, Neurosurgery & Psychiatry 90, no. 12 (November 14, 2019): e52.4-e53. http://dx.doi.org/10.1136/jnnp-2019-abn-2.177.

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Solitary CNS Lymphomatoid granulomatosis (LG), a rare lymphoproliferative disorder, was discovered in a patient collecting rare neurological disorders.A patient diagnosed with Charcot-Marie-Tooth type 4C (SH3CT2) and Myasthenia Gravis, treated with mycophenolate, presented with musical hallucinosis, described as choral music occurring in short bursts. Investigations deemed this secondary to hearing loss. Neuro-imaging revealed a cerebellar cavernoma and a developmental venous anomaly, thought to be incidental. A rapidly expanding, right frontal lesion was noted on subsequent imaging. Biopsy of this lesion revealed a florid inflammatory infiltrate composed of small lymphocytes, macrophages and non-caseating granulomata. Immunohistochemical staining for CD20 showed moderate numbers of B-lymphocytes, positive for Epstein Barr virus-encoded small RNA, suggesting a diagnosis of LG.Immunosupression is a risk factor for EBV mediated lymphoproliferative disorders. SH3TC2 is involved in myelination and maintenance of the node of Ranvier and mutations disturb interactions with the GTPase Rab11. Outside of the peripheral nervous system mutated Rab11 molecules are known to have neoplastic potential through prevention of the normal function of binding the oncogene Evi5, potentially explaining the development of LG as another rare disorder. Despite tenuous links, these rare neurological disorders appear unrelated in this individual.

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9

Shchagina, Olga, Mariya Orlova, Aisylu Murtazina, Alexandra Filatova, Mikhail Skoblov, and Elena Dadali. "Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy." International Journal of Molecular Sciences 24, no. 12 (June 6, 2023): 9786. http://dx.doi.org/10.3390/ijms24129786.

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The implementation of NGS methods into clinical practice allowed researchers effectively to establish the molecular cause of a disorder in cases of a genetically heterogeneous pathology. In cases of several potentially causative variants, we need additional analysis that can help in choosing a proper causative variant. In the current study, we described a family case of hereditary motor and sensory neuropathy (HMSN) type 1 (Charcot–Marie–Tooth disease). DNA analysis revealed two variants in the SH3TC2 gene (c.279G>A and c.1177+5G>A), as well as a previously described variant c.449−9C>T in the MPZ gene, in a heterozygous state. This family segregation study was incomplete because of the proband’s father's unavailability. To evaluate the variants’ pathogenicity, minigene splicing assay was carried out. This study showed no effect of the MPZ variant on splicing, but the c.1177+5G>A variant in the SH3TC2 gene leads to the retention of 122 nucleotides from intron 10 in the RNA sequence, causing a frameshift and an occurrence of a premature stop codon (NP_078853.2:p.Ala393GlyfsTer2).

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10

Peddareddygari, Leema Reddy, Kinsi Oberoi, and Raji P. Grewal. "Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C." Case Reports in Neurology 10, no. 1 (February 9, 2018): 38–44. http://dx.doi.org/10.1159/000486589.

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Charcot-Marie-Tooth disease type 4C, an autosomal recessive genetic neuropathy, is caused by mutations in the SH3TC2 (SH3 domain and tetratricopeptide repeats 2) gene. Interestingly, although mutations in this gene have been observed in European gypsies, a population that originated in India, there are few publications describing Indian patients. We report our analysis of a 50-year-old woman of Asian Indian descent with onset of progressive distal weakness and sensory loss in childhood. A clinical examination revealed the presence of a neuropathy with pes cavus without spinal abnormalities. Electrophysiological testing confirmed a sensorimotor length-dependent neuropathy with demyelinating features. A genetic analysis revealed she carries 2 novel mutations, c.2488G>T variant (rs879254317) and c.731+5G>A variant (rs879254316), in the SH3TC2 gene. Further genetic testing demonstrated that her son is a carrier of the c.731+5G>A mutation. Our analysis confirms that this patient is a compound heterozygote inheriting these mutations, which are in trans, in an autosomal recessive pattern. Her son developed an episode of sciatic neuropathy with complete resolution. We hypothesize that in his case, haploinsufficiency caused by c.731+5G>A mutation may have predisposed him to the development of this focal neuropathy.

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11

Laššuthová, P., R. Mazanec, P. Vondráček, D. Šišková, J. Haberlová, J. Sabová, and P. Seeman. "High frequency of SH3TC2 mutations in Czech HMSN I patients." Clinical Genetics 80, no. 4 (March 1, 2011): 334–45. http://dx.doi.org/10.1111/j.1399-0004.2011.01640.x.

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12

Gosselin, Isabelle, Isabelle Thiffault, Martine Tétreault, Vann Chau, Marie-Josée Dicaire, Lina Loisel, Monique Emond, et al. "Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster." Neuromuscular Disorders 18, no. 6 (June 2008): 483–92. http://dx.doi.org/10.1016/j.nmd.2008.04.001.

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13

Grunseich, Christopher, Alice B. Schindler, Ke-lian Chen, Dara Bakar, Ami Mankodi, Ryan Traslavina, Abhik Ray-Chaudhury, et al. "Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency." Journal of Neurology 262, no. 4 (March 4, 2015): 1066–68. http://dx.doi.org/10.1007/s00415-015-7683-x.

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14

Nagappa, Madhu, Shivani Sharma, Periyasamy Govindaraj, YashaT Chickabasaviah, Ramesh Siram, Akhilesh Shroti, DoniparthiV Seshagiri, et al. "Characterisation of Patients with SH3TC2 Associated Neuropathy in an Indian Cohort." Neurology India 71, no. 5 (2023): 940. http://dx.doi.org/10.4103/0028-3886.388101.

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15

Cortese, Andrea, Janel E. Wilcox, James M. Polke, Roy Poh, Mariola Skorupinska, Alexander M. Rossor, Matilde Laura, et al. "Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease." Neurology 94, no. 1 (December 11, 2019): e51-e61. http://dx.doi.org/10.1212/wnl.0000000000008672.

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ObjectiveTo investigate the effectiveness of targeted next-generation sequencing (NGS) panels in achieving a molecular diagnosis in Charcot-Marie-Tooth disease (CMT) and related disorders in a clinical setting.MethodsWe prospectively enrolled 220 patients from 2 tertiary referral centers, one in London, United Kingdom (n = 120), and one in Iowa (n = 100), in whom a targeted CMT NGS panel had been requested as a diagnostic test. PMP22 duplication/deletion was previously excluded in demyelinating cases. We reviewed the genetic and clinical data upon completion of the diagnostic process.ResultsAfter targeted NGS sequencing, a definite molecular diagnosis, defined as a pathogenic or likely pathogenic variant, was reached in 30% of cases (n = 67). The diagnostic rate was similar in London (32%) and Iowa (29%). Variants of unknown significance were found in an additional 33% of cases. Mutations in GJB1, MFN2, and MPZ accounted for 39% of cases that received genetic confirmation, while the remainder of positive cases had mutations in diverse genes, including SH3TC2, GDAP1, IGHMBP2, LRSAM1, FDG4, and GARS, and another 12 less common genes. Copy number changes in PMP22, MPZ, MFN2, SH3TC2, and FDG4 were also accurately detected. A definite genetic diagnosis was more likely in cases with an early onset, a positive family history of neuropathy or consanguinity, and a demyelinating neuropathy.ConclusionsNGS panels are effective tools in the diagnosis of CMT, leading to genetic confirmation in one-third of cases negative for PMP22 duplication/deletion, thus highlighting how rarer and previously undiagnosed subtypes represent a relevant part of the genetic landscape of CMT.

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16

Kurt, Fatih, Mustafa Dogan, and Recep Eroz. "Charcott-Marie-Tooth Disease Type 4c Caused from a Pathogenic Homozygous c.1897delG (p.Ala633Profs * 12) Variation in The SH3TC2 Gene." Hong Kong Journal of Paediatrics Research 4, no. 3 (December 30, 2021): 35–37. http://dx.doi.org/10.37515/pediatric.5887.4301.

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Charcot-Marie-Tooth (CMT) is a group of diseases with peripheral nerve involvement known as hereditary sensory and motor neuropathy (1). It is the most common inherited neuromuscular disorder. CMT usually begins to show symptoms in the first 10 years and 20s. Clinical symptoms are bilateral, symmetrical sensory and motor polyneuropathy. Its diagnosis is based on clinical findings, EMG and molecular genetic tests. Its treatment is symptomatic. In this article, a CMT Type 4c patient with scoliosis, kyphosis, bilateral sensory and motor polyneuropathy and having SH3TC2 mutation, which is very rare in genetic analysis, is presented.

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17

Yuan, Jun-Hui, Akihiro Hashiguchi, Yuji Okamoto, Akiko Yoshimura, Masahiro Ando, Kazutaka Shiomi, Kayoko Saito, et al. "Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2." Journal of Human Genetics 63, no. 3 (January 10, 2018): 281–87. http://dx.doi.org/10.1038/s10038-017-0388-5.

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18

Azzedine, H., N. Ravise, C. Verny, A. Gabreels-Festen, M. Lammens, D. Grid, J. M. Vallat, et al. "Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations." Neurology 67, no. 4 (August 21, 2006): 602–6. http://dx.doi.org/10.1212/01.wnl.0000230225.19797.93.

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19

Moore Burk, M., C. Kelley, C. Silver, M. Gibbons, H. Foster, K. Browning, M. Murphy-Zane, S. Apkon, and M. Yang. "100P Case series of three children with SH3TC2-Related Hereditary Sensorimotor Neuropathy." Neuromuscular Disorders 43 (October 2024): 104441.570. http://dx.doi.org/10.1016/j.nmd.2024.07.579.

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20

Lee, Ah Jin, Soo Hyun Nam, Jin-Mo Park, Sumaira Kanwal, Yu Jin Choi, Hyun Jung Lee, Kyung Suk Lee, et al. "Compound heterozygous mutations of SH3TC2 in Charcot–Marie–Tooth disease type 4C patients." Journal of Human Genetics 64, no. 9 (June 21, 2019): 961–65. http://dx.doi.org/10.1038/s10038-019-0636-y.

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21

Colomer, Jaume, Rebecca Gooding, Dora Angelicheva, Rosalind H. M. King, Encarna Guillén-Navarro, Yesim Parman, Andres Nascimento, Joan Conill, and Luba Kalaydjieva. "Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2." Neuromuscular Disorders 16, no. 7 (July 2006): 449–53. http://dx.doi.org/10.1016/j.nmd.2006.05.005.

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22

Roberts, Rhys C., Andrew A. Peden, Folma Buss, Nicholas A. Bright, Morwena Latouche, Mary M. Reilly, John Kendrick-Jones, and J. Paul Luzio. "Mistargeting of SH3TC2 away from the recycling endosome causes Charcot–Marie–Tooth disease type 4C." Human Molecular Genetics 19, no. 6 (December 22, 2009): 1009–18. http://dx.doi.org/10.1093/hmg/ddp565.

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23

Stendel, Claudia, Andreas Roos, Henning Kleine, Estelle Arnaud, Murat Özçelik, Páris N. M. Sidiropoulos, Jennifer Zenker, et al. "SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling." Brain 133, no. 8 (July 24, 2010): 2462–74. http://dx.doi.org/10.1093/brain/awq168.

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24

Piscosquito, Giuseppe, Paola Saveri, Stefania Magri, Claudia Ciano, Claudia Gandioli, Michela Morbin, Daniela D. Bella, Isabella Moroni, Franco Taroni, and Davide Pareyson. "Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)." Journal of the Peripheral Nervous System 21, no. 3 (September 2016): 142–49. http://dx.doi.org/10.1111/jns.12175.

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Ichikawa, Kazushi, Keita Numasawa, Saoko Takeshita, Akihiro Hashiguchi, and Hiroshi Takashima. "Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C." Pediatrics International 58, no. 11 (November 2016): 1252–54. http://dx.doi.org/10.1111/ped.13152.

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Estévez-Arias, Berta, Laura Carrera-García, Andrés Nascimento, Lara Cantarero, Janet Hoenicka, and Francesc Palau. "Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease." Journal of Translational Genetics and Genomics 6 (2022): 333–52. http://dx.doi.org/10.20517/jtgg.2022.04.

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Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, affecting at least 1 in 2500 individuals. CMT refers to a heterogeneous group of inherited neuropathies from both phenotypic and genetic points of view. Over the last decades, there have been important advances not only in the identification of causative genes but also in understanding the molecular basis for many forms of CMT. In fact, to date, around 100 genes have been related to CMT disease, thanks to next generation sequencing techniques, and they have been proven to affect either the myelin or axon of peripheral nerves. Moreover, its genetic diagnosis has remarkedly improved, although there are still difficulties when it comes to treatment. In this review, we explore in depth the eight most prevalent genes associated with CMT: GDAP1, GJB1, HINT1, MFN2, MPZ, PMP22, SH3TC2, and SORD. We also address the disrupted cellular processes and pathophysiological mechanisms involved in the disease. A better understanding of the pathogenic mechanisms responsible for each type of CMT would be essential to identifying molecular targets and therapeutic strategies.

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Zhao, Xin, Ming-Ming Jiang, Yi-Zhou Yan, Lei Liu, Yong-Zhi Xie, Xiao-Bo Li, Zheng-Mao Hu, et al. "Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth." Chinese Medical Journal 131, no. 2 (January 2018): 151–55. http://dx.doi.org/10.4103/0366-6999.222331.

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Laššuthová, Petra, Martin Gregor, Lenka Sarnová, Eliška Machalová, Radek Sedláček, and Pavel Seeman. "Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene." Journal of Neurogenetics 26, no. 3-4 (September 2012): 413–20. http://dx.doi.org/10.3109/01677063.2012.711398.

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29

Claramunt, R., T. Sevilla, V. Lupo, A. Cuesta, JM Millán, JJ Vílchez, F. Palau, and C. Espinós. "The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4." Clinical Genetics 71, no. 4 (April 25, 2007): 343–49. http://dx.doi.org/10.1111/j.1399-0004.2007.00774.x.

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30

Brewer, Megan Hwa, Ki Hwan Ma, Gary W. Beecham, Chetna Gopinath, Frank Baas, Byung-Ok Choi, Mary M. Reilly, et al. "Haplotype-specific modulation of a SOX10/CREB response element at the Charcot–Marie–Tooth disease type 4C locus SH3TC2." Human Molecular Genetics 23, no. 19 (May 15, 2014): 5171–87. http://dx.doi.org/10.1093/hmg/ddu240.

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31

Colomer, J., R. Gooding, D. Angelicheva, R. H. M. King, Y. Parman, A. Nascimento, J. Conill, and L. Kalaydjieva. "N.P.3 02 Wide clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2 gene." Neuromuscular Disorders 16, no. 9-10 (October 2006): 664–65. http://dx.doi.org/10.1016/j.nmd.2006.05.078.

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Zivkovic, Sasha A., and Daniel DiCapua. "Late Onset of Severe Demyelinating Peripheral Neuropathy in a 62-Year-Old African American Woman." Journal of Clinical Neuromuscular Disease 25, no. 3 (March 2024): 152–56. http://dx.doi.org/10.1097/cnd.0000000000000481.

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Abstract Hereditary neuropathies are typically associated with an early onset of symptoms, but same types of neuropathies may also manifest late, after the age 50 years. A 62-year-old African American woman presented with a 6-year history of gait unsteadiness and has been using a walker since the age 57 years after an unwitnessed fall. Gradual worsening of walking difficulties was later followed by decreased dexterity. The family history was negative for neuromuscular disorders, including neuropathy. On examination, the patient had both distal and proximal weakness with distal sensory loss to all modalities and hyporeflexia. Charcot Marie Tooth Examination Score was 12. Previous electrodiagnostic testing at the age 60 years showed severe sensorimotor demyelinating polyneuropathy with bilateral severe carpal tunnel syndrome. Genetic testing showed a homozygous pathogenic mutation in SH3TC2 gene (c.2860C>T; p.Arg954*), associated with CMT4C. CMT4C is the most common recessive demyelinating sensorimotor polyneuropathy and overall comprises 0.4%–1.7% of all patients with Charcot–Marie–Tooth disease. It is more common in French Canadians and Spanish Roma and in recent natural history study; only 1 of 56 patients was African American. This report demonstrates sporadic occurrence of CMT4C in other ethnic groups as well.

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Houlden, Henry, Matilde Laura, Lionel Ginsberg, Heinz Jungbluth, Stephanie A. Robb, Julian Blake, Susan Robinson, Rosalind H. M. King, and Mary M. Reilly. "The phenotype of Charcot–Marie–Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy." Neuromuscular Disorders 19, no. 4 (April 2009): 264–69. http://dx.doi.org/10.1016/j.nmd.2009.01.006.

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Arnaud, E., J. Zenker, A. S. de Preux Charles, C. Stendel, A. Roos, J. J. Medard, N. Tricaud, et al. "SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system." Proceedings of the National Academy of Sciences 106, no. 41 (September 29, 2009): 17528–33. http://dx.doi.org/10.1073/pnas.0905523106.

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Kalane, UmeshDinkar, Chaitanya Datar, and Anita Mahadevan. "First reported case of Charcot Marie Tooth disease type 4C in a child from India with SH3TC2 mutation but absent spinal deformities." Neurology India 63, no. 3 (2015): 395. http://dx.doi.org/10.4103/0028-3886.158222.

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Forrester, N., M. Greenslade, C. Buxton, A. Norman, and A. Majumdar. "A novel homozygous frameshift deletion in the SH3TC2 gene in a patient with Charcot–Marie–Tooth (CMT) type 4C and severe ataxia." Neuromuscular Disorders 26 (October 2016): S141. http://dx.doi.org/10.1016/j.nmd.2016.06.202.

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Lerat, J., C. Magdelaine, A. Lunati, H. Dzugan, C. Dejoie, M. Rego, P. Beze Beyrie, et al. "Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants." Journal of the Neurological Sciences 406 (November 2019): 116376. http://dx.doi.org/10.1016/j.jns.2019.06.027.

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Lupo, Vincenzo, Máximo I. Galindo, Dolores Martínez-Rubio, Teresa Sevilla, Juan J. Vílchez, Francesc Palau, and Carmen Espinós. "Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway." Human Molecular Genetics 18, no. 23 (September 10, 2009): 4603–14. http://dx.doi.org/10.1093/hmg/ddp427.

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Vijay, Sauparnika, Meagan Chiu, Joel B. Dacks, and Rhys C. Roberts. "Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C." Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1862, no. 7 (July 2016): 1279–90. http://dx.doi.org/10.1016/j.bbadis.2016.04.003.

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Kontogeorgiou, Zoi, Katerina Nikolaou, Chrisoula Kartanou, Marianthi Breza, Marios Panas, Georgia Karadima, and Georgios Koutsis. "Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot‐Marie‐Tooth disease reveals a varied and unusual phenotypic spectrum." Journal of the Peripheral Nervous System 24, no. 1 (February 6, 2019): 125–30. http://dx.doi.org/10.1111/jns.12305.

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Hopmann, D., A. Kivi, E. Riesch, A. Alishammat, B. Schmitz, A. Abdullah Al-Ajmi, J. Wissel, and J. Müller. "P 43 A novel deletion in two exons of the SH3TC2 gene with mutation in the DPYD gene in Charcot-Marie-Tooth disease type 4C." Clinical Neurophysiology 128, no. 10 (October 2017): e351-e352. http://dx.doi.org/10.1016/j.clinph.2017.06.122.

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Murtazina, A. F., O. A. Shchagina, T. B. Milovidova, E. L. Dadali, G. E. Rudenskaya, S. A. Kurbatov, T. V. Fedotova, et al. "Clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D (type Lom) in Russia." Neuromuscular Diseases 10, no. 2 (August 23, 2020): 39–45. http://dx.doi.org/10.17650/2222-8721-2020-10-2-39-45.

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Introduction. Charcot–Marie–Tooth disease type 4D is a hereditary demyelinating neuropathy, that occurs with the high frequency in patients of Roma origin. It is characterized by early onset at the age of 2–10 years and hearing impairment, manifested by the 3rd decade of life.Aim of the study. To describe the clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D in Russian patients of Roma origin.Materials and methods. For 14 probands from unrelated families of Roma origin with a clinical diagnosis of Charcot–Marie–Tooth disease, genetic tests for the pathogenic variants c. 442C>T in the NDRG1 gene and c. 3325C>T in the SH3TC2 gene was carried out. For 8 patients with Charcot–Marie–Tooth disease type 4D, detailed clinical and electrophysiological examination was performed.Results. In 11 families of Roma origin, the c. 442C>T pathogenic variant in the NDRG1 gene in a homozygous state was detected, which accounted for 79 % all observed Roma patients with Charcot–Marie–Tooth disease. There are 12 of the 14 tested families live in the European part of Russia, 7 of them are from nearby regions. The average age of onset was 3.3 years. The first symptom in 7 of 8 patients was gait disturbances. At the time of examination (age range 6–19 years), all patients showed marked hypotrophy and weakness of the feet, lower leg, hands muscles, feet deformities, reduction or loss of tendon reflexes.Discussion. Due to the detection of only one pathogenic variant in most Russian patients of Roma origin with Charcot–Marie–Tooth disease, the knowledge of the ethnicity of a proband with early myelinopathy can significantly simplify the confirmation of the diagnosis on the molecular level.

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Bacquet, Juliette, Tanya Stojkovic, Amandine Boyer, Nathalie Martini, Frédérique Audic, Brigitte Chabrol, Emmanuelle Salort-Campana, et al. "Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation." BMJ Open 8, no. 10 (October 2018): e021632. http://dx.doi.org/10.1136/bmjopen-2018-021632.

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PurposeInherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity to screen all these genes with high efficiency in order to unravel the genetic basis of the disease. Here, we compare the diagnostic yield of targeted NGS with our previous gene by gene Sanger sequencing strategy. We also describe several novel likely pathogenic variants.Design and participantsWe have completed the targeted NGS of 81 IPN genes in a cohort of 123 unrelated patients affected with diverse forms of IPNs, mostly Charcot-Marie-Tooth disease (CMT): 23% CMT1, 52% CMT2, 9% distal hereditary motor neuropathy, 7% hereditary sensory and autonomic neuropathy and 6.5% intermediate CMT.ResultsWe have solved the molecular diagnosis in 49 of 123 patients (~40%). Among the identified variants, 26 variants were already reported in the literature. In our cohort, the most frequently mutated genes are respectively:MFN2,SH3TC2,GDAP1,NEFL,GAN,KIF5AandAARS. Panel-based NGS was more efficient in familial cases than in sporadic cases (diagnostic yield 49%vs19%, respectively). NGS-based search for copy number variations, allowed the identification of three duplications in three patients and raised the diagnostic yield to 41%. This yield is two times higher than the one obtained previously by gene Sanger sequencing screening. The impact of panel-based NGS screening is particularly important for demyelinating CMT (CMT1) subtypes, for which the success rate reached 87% (36% only for axonal CMT2).ConclusionNGS allowed to identify causal mutations in a shorter and cost-effective time. Actually, targeted NGS is a well-suited strategy for efficient molecular diagnosis of IPNs. However, NGS leads to the identification of numerous variants of unknown significance, which interpretation requires interdisciplinary collaborations between molecular geneticists, clinicians and (neuro)pathologists.

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Kawahara, Kyoko, Tomoyuki Mukai, Masanori Iseki, Akiko Nagasu, Hajime Nagasu, Takahiko Akagi, Shoko Tsuji, et al. "SH3BP2 Deficiency Ameliorates Murine Systemic Lupus Erythematosus." International Journal of Molecular Sciences 22, no. 8 (April 17, 2021): 4169. http://dx.doi.org/10.3390/ijms22084169.

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Background: The adaptor protein Src homology 3 domain-binding protein 2 (SH3BP2) is widely expressed in immune cells. It controls intracellular signaling pathways. The present study was undertaken to investigate the role of SH3BP2 in a murine systemic lupus erythematosus model. Methods: For the lupus model, we used Faslpr/lpr mice. Clinical and immunological phenotypes were compared between Faslpr/lpr and SH3BP2-deficient Faslpr/lpr mice. Splenomegaly and renal involvement were assessed. Lymphocyte subsets in the spleen were analyzed by flow cytometry. To examine the role of SH3BP2 in specific cells, B cell-specific SH3BP2-deficient lupus mice were analyzed; T cells and bone marrow-derived dendritic cells and macrophages were analyzed in vitro. Results: SH3BP2 deficiency significantly reduced lupus-like phenotypes, presented as splenomegaly, renal involvement, elevated serum anti-dsDNA antibody, and increased splenic B220+CD4−CD8− T cells. Notably, SH3BP2 deficiency in B cells did not rescue the lupus-like phenotypes. Furthermore, SH3BP2 deficiency did not substantially affect the characteristics of T cells and macrophages in vitro. Interestingly, SH3BP2 deficiency suppressed the differentiation of dendritic cells in vitro and reduced the number of dendritic cells in the spleen of the lupus-prone mice. Conclusions: SH3BP2 deficiency ameliorated lupus-like manifestations. Modulating SH3BP2 expression could thus provide a novel therapeutic approach to autoimmune diseases.

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Jung, Hyo Young, Hyun Jung Kwon, Woosuk Kim, In Koo Hwang, Goang-Min Choi, In Bok Chang, Dae Won Kim, and Seung Myung Moon. "Tat-Endophilin A1 Fusion Protein Protects Neurons from Ischemic Damage in the Gerbil Hippocampus: A Possible Mechanism of Lipid Peroxidation and Neuroinflammation Mitigation as Well as Synaptic Plasticity." Cells 10, no. 2 (February 9, 2021): 357. http://dx.doi.org/10.3390/cells10020357.

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The present study explored the effects of endophilin A1 (SH3GL2) against oxidative damage brought about by H2O2 in HT22 cells and ischemic damage induced upon transient forebrain ischemia in gerbils. Tat-SH3GL2 and its control protein (Control-SH3GL2) were synthesized to deliver it to the cells by penetrating the cell membrane and blood–brain barrier. Tat-SH3GL2, but not Control-SH3GL2, could be delivered into HT22 cells in a concentration- and time-dependent manner and the hippocampus 8 h after treatment in gerbils. Tat-SH3GL2 was stably present in HT22 cells and degraded with time, by 36 h post treatment. Pre-incubation with Tat-SH3GL2, but not Control-SH3GL2, significantly ameliorated H2O2-induced cell death, DNA fragmentation, and reactive oxygen species formation. SH3GL2 immunoreactivity was decreased in the gerbil hippocampal CA1 region with time after ischemia, but it was maintained in the other regions after ischemia. Tat-SH3GL2 treatment in gerbils appreciably improved ischemia-induced hyperactivity 1 day after ischemia and the percentage of NeuN-immunoreactive surviving cells increased 4 days after ischemia. In addition, Tat-SH3GL2 treatment in gerbils alleviated the increase in lipid peroxidation as assessed by the levels of malondialdehyde and 8-iso-prostaglandin F2α and in pro-inflammatory cytokines such as tumor necrosis factor-α, interleukin-1β, and interleukin-6; while the reduction of protein levels in markers for synaptic plasticity, such as postsynaptic density 95, synaptophysin, and synaptosome associated protein 25 after transient forebrain ischemia was also observed. These results suggest that Tat-SH3GL2 protects neurons from oxidative and ischemic damage by reducing lipid peroxidation and inflammation and improving synaptic plasticity after ischemia.

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Nagasu, Akiko, Tomoyuki Mukai, Masanori Iseki, Kyoko Kawahara, Shoko Tsuji, Hajime Nagasu, Yasuyoshi Ueki, Katsuhiko Ishihara, Naoki Kashihara, and Yoshitaka Morita. "Sh3bp2 Gain-Of-Function Mutation Ameliorates Lupus Phenotypes in B6.MRL-Faslpr Mice." Cells 8, no. 5 (April 30, 2019): 402. http://dx.doi.org/10.3390/cells8050402.

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SH3 domain-binding protein 2 (SH3BP2) is an adaptor protein that is predominantly expressed in immune cells, and it regulates intracellular signaling. We had previously reported that a gain-of-function mutation in SH3BP2 exacerbates inflammation and bone loss in murine arthritis models. Here, we explored the involvement of SH3BP2 in a lupus model. Sh3bp2 gain-of-function (P416R knock-in; Sh3bp2KI/+) mice and lupus-prone B6.MRL-Faslpr mice were crossed to yield double-mutant (Sh3bp2KI/+Faslpr/lpr) mice. We monitored survival rates and proteinuria up to 48 weeks of age and assessed renal damage and serum anti-double-stranded DNA antibody levels. Additionally, we analyzed B and T cell subsets in lymphoid tissues by flow cytometry and determined the expression of apoptosis-related molecules in lymph nodes. Sh3bp2 gain-of-function mutation alleviated the poor survival rate, proteinuria, and glomerulosclerosis and significantly reduced serum anti-dsDNA antibody levels in Sh3bp2KI/+Faslpr/lpr mice. Additionally, B220+CD4−CD8− T cell population in lymph nodes was decreased in Sh3bp2KI/+Faslpr/lpr mice, which is possibly associated with the observed increase in cleaved caspase-3 and tumor necrosis factor levels. Sh3bp2 gain-of-function mutation ameliorated clinical and immunological phenotypes in lupus-prone mice. Our findings offer better insight into the unique immunopathological roles of SH3BP2 in autoimmune diseases.

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Proaño-Pérez, Elizabeth, Eva Serrano-Candelas, Cindy Mancia, Arnau Navinés-Ferrer, Mario Guerrero, and Margarita Martin. "SH3BP2 Silencing Increases miRNAs Targeting ETV1 and Microphthalmia-Associated Transcription Factor, Decreasing the Proliferation of Gastrointestinal Stromal Tumors." Cancers 14, no. 24 (December 15, 2022): 6198. http://dx.doi.org/10.3390/cancers14246198.

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Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. Gain of function in receptor tyrosine kinases type III, KIT, or PDGFRA drives the majority of GIST. Previously, our group reported that silencing of the adaptor molecule SH3 Binding Protein 2 (SH3BP2) downregulated KIT and PDGFRA and microphthalmia-associated transcription factor (MITF) levels and reduced tumor growth. This study shows that SH3BP2 silencing also decreases levels of ETV1, a required factor for GIST growth. To dissect the SH3BP2 pathway in GIST cells, we performed a miRNA array in SH3BP2-silenced GIST cell lines. Among the most up-regulated miRNAs, we found miR-1246 and miR-5100 to be predicted to target MITF and ETV1. Overexpression of these miRNAs led to a decrease in MITF and ETV1 levels. In this context, cell viability and cell cycle progression were affected, and a reduction in BCL2 and CDK2 was observed. Interestingly, overexpression of MITF enhanced cell proliferation and significantly rescued the viability of miRNA-transduced cells. Altogether, the KIT-SH3BP2-MITF/ETV1 pathway deserves to be considered in GIST cell survival and proliferation.

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Mukai, Tomoyuki, Shunichi Fujita, and Yoshitaka Morita. "Tankyrase (PARP5) Inhibition Induces Bone Loss through Accumulation of Its Substrate SH3BP2." Cells 8, no. 2 (February 22, 2019): 195. http://dx.doi.org/10.3390/cells8020195.

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There is considerable interest in tankyrase because of its potential use in cancer therapy. Tankyrase catalyzes the ADP-ribosylation of a variety of target proteins and regulates various cellular processes. The anti-cancer effects of tankyrase inhibitors are mainly due to their suppression of Wnt signaling and inhibition of telomerase activity, which are mediated by AXIN and TRF1 stabilization, respectively. In this review, we describe the underappreciated effects of another substrate, SH3 domain-binding protein 2 (SH3BP2). Specifically, SH3BP2 is an adaptor protein that regulates intracellular signaling pathways. Additionally, in the human genetic disorder cherubism, the gain-of-function mutations in SH3BP2 enhance osteoclastogenesis. The pharmacological inhibition of tankyrase in mice induces bone loss through the accumulation of SH3BP2 and the subsequent increase in osteoclast formation. These findings reveal the novel functions of tankyrase influencing bone homeostasis, and imply that tankyrase inhibitor treatments in a clinical setting may be associated with adverse effects on bone mass.

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Imai, Yoshimichi, Kiyoshi Kanno, Takuya Moriya, Shuji Kayano, Hiroto Seino, Yoichi Matsubara, and Atsushi Yamada. "A Missense Mutation in the SH3BP2 Gene on Chromosome 4p16.3 Found in a Case of Nonfamilial Cherubism." Cleft Palate-Craniofacial Journal 40, no. 6 (November 2003): 632–38. http://dx.doi.org/10.1597/1545-1569_2003_040_0632_ammits_2.0.co_2.

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Objective Cherubism is a rare hereditary multilocular cystic disease of the jaws, characterized by its typical appearance. Although nonfamilial cases have been reported, it is difficult to distinguish nonfamilial cherubism from central giant cell granuloma. Recent studies have revealed the point mutations in the SH3BP2 gene on chromosome 4p16.3 in cherubism families. In this article, the SH3BP2 gene in nonfamilial cherubism was examined. Patient A 21-year-old Japanese woman with nonfamilial cherubism. Interventions Genomic DNA was purified from a blood sample obtained from the patient and used for direct sequencing. In addition, a sample of the lesion, resected during surgery, was used for histologic and immunohistochemical purposes. Results Genomic DNA sequencing found a Pro418Arg mutation in the SH3BP2 gene of the patient. In a histochemical analysis, the multinucleated giant cells proved to be strongly positive for PGM-1, KP-1, and tartrate-resistant acid phosphatase and faintly positive for osteopontin. Conclusions The missense mutation Pro418Arg was identified in the SH3BP2 gene from a nonfamilial case of cherubism. DNA diagnosis may play a significant role in the identification of cherubism.

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Nagel, Marie-Kristin, Kamila Kalinowska, Karin Vogel, Gregory D. Reynolds, Zhixiang Wu, Franziska Anzenberger, Mie Ichikawa, et al. "Arabidopsis SH3P2 is an ubiquitin-binding protein that functions together with ESCRT-I and the deubiquitylating enzyme AMSH3." Proceedings of the National Academy of Sciences 114, no. 34 (August 7, 2017): E7197—E7204. http://dx.doi.org/10.1073/pnas.1710866114.

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Clathrin-mediated endocytosis of plasma membrane proteins is an essential regulatory process that controls plasma membrane protein abundance and is therefore important for many signaling pathways, such as hormone signaling and biotic and abiotic stress responses. On endosomal sorting, plasma membrane proteins maybe recycled or targeted for vacuolar degradation, which is dependent on ubiquitin modification of the cargos and is driven by the endosomal sorting complexes required for transport (ESCRTs). Components of the ESCRT machinery are highly conserved among eukaryotes, but homologs of ESCRT-0 that are responsible for recognition and concentration of ubiquitylated proteins are absent in plants. Recently several ubiquitin-binding proteins have been identified that serve in place of ESCRT-0; however, their function in ubiquitin recognition and endosomal trafficking is not well understood yet. In this study, we identified Src homology-3 (SH3) domain-containing protein 2 (SH3P2) as a ubiquitin- and ESCRT-I–binding protein that functions in intracellular trafficking. SH3P2 colocalized with clathrin light chain-labeled punctate structures and interacted with clathrin heavy chain in planta, indicating a role for SH3P2 in clathrin-mediated endocytosis. Furthermore, SH3P2 cofractionates with clathrin-coated vesicles (CCVs), suggesting that it associates with CCVs in planta. Mutants of SH3P2 and VPS23 genetically interact, suggesting that they could function in the same pathway. Based on these results, we suggest a role of SH3P2 as an ubiquitin-binding protein that binds and transfers ubiquitylated proteins to the ESCRT machinery.

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