Academic literature on the topic 'LZTR1'

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Journal articles on the topic "LZTR1"

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Steklov, M., S. Pandolfi, M. F. Baietti, et al. "Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination." Science 362, no. 6419 (2018): 1177–82. http://dx.doi.org/10.1126/science.aap7607.

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The leucine zipper–like transcriptional regulator 1 (LZTR1) protein, an adaptor for cullin 3 (CUL3) ubiquitin ligase complex, is implicated in human disease, yet its mechanism of action remains unknown. We found that Lztr1 haploinsufficiency in mice recapitulates Noonan syndrome phenotypes, whereas LZTR1 loss in Schwann cells drives dedifferentiation and proliferation. By trapping LZTR1 complexes from intact mammalian cells, we identified the guanosine triphosphatase RAS as a substrate for the LZTR1-CUL3 complex. Ubiquitome analysis showed that loss of Lztr1 abrogated Ras ubiquitination at lys
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Ko, Aram, Mohammad Hasanain, Young Taek Oh, et al. "CSIG-01. EGFR AND AXL RECEPTOR TYROSINE KINASES DRIVE ONCOGENESIS BY LZTR1 MUTATION." Neuro-Oncology 24, Supplement_7 (2022): vii38. http://dx.doi.org/10.1093/neuonc/noac209.150.

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Abstract LZTR1, the substrate-specific adaptor of a CUL3-dependent ubiquitin ligase is among the most frequently mutated ubiquitin ligase coding gene in syndromic and sporadic human cancers including glioblastoma multiforme, in which approximately 27% of cases harbor inactivating mutations and copy number loss. However, both the identity of the protein substrates targeted by LZTR1-mediated ubiquitylation and the biological contexts regulated by specific LZTR1-substrate(s) interactions remain uncertain. Here, we combined biochemical and genetic studies to identify LZTR1 substrates and interroga
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Chen, Sisi, Rahul S. Vedula, Pau Castel, et al. "Impaired RAS Proteolysis Drives Clonal Hematopoietic Transformation." Blood 138, Supplement 1 (2021): 356. http://dx.doi.org/10.1182/blood-2021-147026.

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Abstract Recently, the protein LZTR1 (leucine zipper-like transcriptional regulator 1) was discovered as an adaptor for a cullin 3 complex responsible for ubiquitin-mediated degradation of RAS proteins. While these data provided a novel mechanism for RAS protein regulation, there is considerable controversy as to which RAS paralogs are physiologic substrates of LZTR1. In parallel, dysregulated LZTR1 expression via aberrant splicing and mutations in both LZTR1 as well as the RAS GTPase and LZTR1 substrate RIT1 were identified in patients with clonal hematopoietic disorders. However, the effects
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Song, Xuemin, Dongming Luo, Qian Zhong, et al. "Effect of Targeting Leucine-Zipper-Like Transcription Regulator 1 Gene on Colon Cancer Cells." Journal of Biomaterials and Tissue Engineering 11, no. 8 (2021): 1588–94. http://dx.doi.org/10.1166/jbt.2021.2727.

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LZTR1 is associated with several diseases, including liver cancer, childhood cancer, and schwannomas. However, LZTR1’s role in colon cancer and its mechanism of action have not been reported. The colon cancer tissues and adjacent tissues were collected to measure the expression of LZTR1 by Real time PCR. Colon cancer SW620 cell lines were cultured and randomly divided into control group and LZTR1 group followed by analysis of LZTR1 expression by real time PCR, cell proliferation by MTT assay, Caspase3 activity, Bcl-2 and Bax level by Real time PCR, cell invasion by Transwell chamber; NF-κB/VEG
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Zhou, Bo, Xinyu Ying, Yingcong Chen, and Xingchen Cai. "A Comprehensive Pan-Cancer Analysis of the Tumorigenic Effect of Leucine-Zipper-Like Transcription Regulator (LZTR1) in Human Cancer." Oxidative Medicine and Cellular Longevity 2022 (October 17, 2022): 1–19. http://dx.doi.org/10.1155/2022/2663748.

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The elucidation of the action site, mechanism of Leucine-Zipper-like Transcription Regulator-1 (LZTR1) and its relationship with RAS-MAPK signaling pathway attracts more and more scholars to focus on the researches of LZTR1 and its role in tumorigenesis. However, there was no pan-cancer analysis between LZTR1 and human tumors reported before. Therefore, we are the first to investigate the potential oncogenic roles of LZTR1 across all tumor types based on the datasets of TCGA (The Cancer Genome Atlas) and GEO (Gene Expression Omnibus). LZTR1 plays a double-edged role in tumor development and pr
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Ivanisevic, Tonci, Greetje Vande Velde, Peihua Zhao, Wout Magits, Raj N. Sewduth, and Anna A. Sablina. "Abstract 3941: Wild-type KRAS dosage in mutant KRAS lung cancer: Implications for tumorigenesis and therapeutic response." Cancer Research 84, no. 6_Supplement (2024): 3941. http://dx.doi.org/10.1158/1538-7445.am2024-3941.

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Abstract Lung adenocarcinomas (LUAD) are frequently driven by activating mutations in the Kirsten rat sarcoma viral oncogene homolog (KRAS). Previous studies have suggested that wild-type (wt)-RAS signaling may modulate cancer progression and drug resistance in these tumors. However, the interplay between oncogenic KRAS and wt-RAS-like GTPases in lung cancer biology and treatment remains debated. Here, we investigated the impact of increased wt-KRAS dosage in LUAD harboring mutant KRAS on lung cancer phenotypes and response to anti-KRAS therapies. Increased wt-KRAS dosage occurs in LUAD due to
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Inoue, Daichi, Jacob T. Polaski, Justin Taylor, et al. "ZRSR2 Mutation Induced Minor Intron Retention Drives MDS and Diverse Cancer Predisposition Via Aberrant Splicing of LZTR1." Blood 136, Supplement 1 (2020): 10–11. http://dx.doi.org/10.1182/blood-2020-136445.

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Mutations in RNA splicing factors are amongst the most common genetic alterations in myeloid malignancies. Mutations in the splicing factors SF3B1, SRSF2, and U2AF1 occur as heterozygous, missense mutations and have been shown to confer a change-of-function. In contrast, the X chromosome encoded ZRSR2 is enriched in nonsense/frameshift mutations in males, consistent with loss of function. To date however, we do not understand the basis for enrichment of ZRSR2 mutations in leukemia. Moreover, ZRSR2 is the only one of these factors that primarily functions in the minor spliceosome. While most in
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Yunga Tigre, Joseph, David J. Levi, Victor M. Lu, et al. "A novel leucine zipper-like transcriptional regulator 1 variant identified in a pair of siblings with familial schwannomatosis." Surgical Neurology International 15 (August 16, 2024): 285. http://dx.doi.org/10.25259/sni_193_2024.

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Background: Schwannomatosis is a rare genetic disorder marked by the emergence or predisposition to developing multiple schwannomas. Patients typically present with chronic pain or a mass in the second or third decade of life. Schwannomatosis is characterized by its associated gene, or if the specific gene is not known, then a descriptor is used. Here, we report a new Leucine zipper-like transcriptional regulator 1 (LZTR1) pathogenic variant identified in a pair of siblings with familial LZTR1-related schwannomatosis. Case Descriptions: A 35-year-old male presented for evaluation of the left l
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Ivanisevic, Tonci. "Abstract A019: The role of KRAS ubiquitination in lung cancer heterogeneity." Molecular Cancer Research 21, no. 5_Supplement (2023): A019. http://dx.doi.org/10.1158/1557-3125.ras23-a019.

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Abstract Lung cancer is the most frequent cancer with an aggressive clinical course and high mortality rates. About 30% of non-small lung cancer is driven by activating mutations in KRAS (Kirsten rat sarcoma virus). KRAS signaling is tightly controlled through a series of post-transcriptional mechanisms, whereas dysregulation of KRAS activity is translated into heterogeneous clinical behavior. We, and others, have recently implicated leucine zipper-like transcriptional regulator 1 (LZTR1), an adaptor of the CUL3-containing E3 ligase complex, in the control of RAS ubiquitination. Heterozygous l
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Uliana, Vera, Enrico Ambrosini, Antonietta Taiani, et al. "Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features." Genes 15, no. 7 (2024): 916. http://dx.doi.org/10.3390/genes15070916.

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Leucine zipper-like transcription regulator 1 (LZTR1) acts as a negative factor that suppresses RAS function and MAPK signaling; mutations in this protein may dysregulate RAS ubiquitination and lead to impaired degradation of RAS superfamily proteins. Germline LZTR1 variants are reported in Noonan syndrome, either autosomal dominant or autosomal recessive, and in susceptibility to schwannomatosis. This article explores the genetic and phenotypic diversity of the autosomal dominant LZTR1-related disorders, compiling a cohort of previously published patients (51 with the Noonan phenotype and 123
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Dissertations / Theses on the topic "LZTR1"

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Paganini, Irene. "Exploring the complexity of Schwannomatosis: the role of LZTR1 and the molecular framework of schwannomatosis-associated schwannomas." Doctoral thesis, Università di Siena, 2020. http://hdl.handle.net/11365/1096834.

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Schwannomatosis (SCH) predisposes to multiple schwannomas, caused by mutations in two genes on 22q: SMARCB1 and LZTR1. A 4-hit mechanism, involving SMARCB1, LZTR1 and NF2, brings to development of SCH-related tumors. SMARCB1 shows a clearly define role in schwannomatosis, with a peculiar association of specific mutations with the development of meningiomas. Frequency of LZTR1 mutations is about 50 and 30% in familial and sporadic cases, respectively and we demonstrated that the type of LZTR1 mutation is related to protein expression in SCH-associated tumors. However, the remarkable defect
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Al, Nakouzi Nader. "Etablissement d'un nouveau modèle pérclinique de cancer de la prostate et identification de biomarqueurs de résistance au docetaxel." Phd thesis, Université Paris Sud - Paris XI, 2011. http://tel.archives-ouvertes.fr/tel-00739261.

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La mise au point de modèles de laboratoire est d'une importance cruciale pour comprendre la biologie du cancer de la prostate, ainsi que pour évaluer les nouveaux traitements. Le développement de tels modèles est particulièrement difficile et reste à ce jour insuffisant car la majorité de ces modèles est d'origine métastatique ou obtenu in vitro d'une façon artificielle. C'est pourquoi, nous avons entrepris au laboratoire, l'établissement de nouveaux modèles à partir d'un cancer primaire de prostate tumorale et obtenu la lignée IGR-CaP1. La lignée IGR-CaP1 constitue un modèle adapté pour étudi
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Books on the topic "LZTR1"

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Neurofibromatosis. Exon Publications, 2024. https://doi.org/10.36255/neurofibromatosis.

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Neurofibromatosis is a group of genetic disorders that cause tumors to form on nerves throughout the body, leading to a range of physical, neurological, and cosmetic challenges. This article provides a comprehensive guide to understanding Neurofibromatosis, its causes, and how it is managed. It begins by explaining the condition and its three main types: Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2 (NF2), and Schwannomatosis, each with unique symptoms and complications. The article explores the genetic basis of the disorder, detailing the role of mutations in the NF1, NF2, SMARCB1,
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Book chapters on the topic "LZTR1"

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Song, Kun-Wei, and Scott R. Plotkin. "The Neurofibromatoses." In Neuro-Oncology Compendium for the Boards and Clinical Practice, edited by Maciej M. Mrugala, Na Tosha N. Gatson, Sylvia C. Kurz, Kathryn S. Nevel, and Jennifer L. Clarke. Oxford University PressNew York, 2023. http://dx.doi.org/10.1093/med/9780197573778.003.0027.

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Abstract The neurofibromatoses include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. These are genetically distinct tumor suppressor syndromes with increased incidence of central and peripheral nervous system tumors and an autosomal dominant inheritance pattern. It is important to recognize these syndromes in order to provide optimal clinical care and guide genetic counseling for patients and their families. NF1 is caused by pathogenic variants in the NF1 gene, NF2 by pathogenic variants in the NF2 gene, and schwannomatosis by pathogenic variants in SMARC
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Conference papers on the topic "LZTR1"

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Sewduth, Raj N., Tonci Ivanisevic, Peihua Zhao, and Anna A. Sablina. "Novel Therapeutic Approaches for KRAS-Mutated Lung Cancer Involving LZTR1 Genetic Alteration." In IECC 2023. MDPI, 2023. http://dx.doi.org/10.3390/iecc2023-14221.

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Bigenzahn, Johannes W., Giovanna M. Collu, Felix Kartnig, et al. "Abstract A08: Genetic drug resistance screen identifies LZTR1 as regulator of RAS ubiquitination and signaling." In Abstracts: AACR Special Conference on Targeting RAS-Driven Cancers; December 9-12, 2018; San Diego, CA. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/1557-3125.ras18-a08.

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Steklov, Mikhail, Silvia Pandolfi, Maria Francesca Baietti, et al. "Abstract A14: Mutations in the ubiquitin ligase adaptor LZTR1 drive human disease by dysregulating RAS ubiquitination and signaling." In Abstracts: AACR Special Conference on Targeting RAS-Driven Cancers; December 9-12, 2018; San Diego, CA. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/1557-3125.ras18-a14.

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Horn, S., T. Neuhann, L. Cardellini, et al. "Loss-of-Function Variants of the LZTR1 Gene Are Associated with Isolated Café au lait Macules Manifesting in Early Childhood." In NEP 49th Annual Meeting of the Society for Neuropediatrics 2024. Georg Thieme Verlag KG, 2024. http://dx.doi.org/10.1055/s-0044-1791931.

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Macsek, Peter, Marco Breinig, Lio Böse, Agnieszka Seretny, Luise Butthof, and Darjus Tschaharganeh. "LZTR1 acts as a potent tumor suppressor gene in liver cancer by safeguarding aberrant MAPK activity via posttranslational control of RAS GTPases." In 39. Jahrestagung der Deutschen Arbeitsgemeinschaft zum Studium der Leber. Georg Thieme Verlag, 2023. http://dx.doi.org/10.1055/s-0042-1760013.

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Cotteret, Sophie, Nader Al Nakouzi, Catherine Gaudin, et al. "Abstract 956: Role of the cell cycle regulator LZTS1 in docetaxel resistance of prostate cancer cells and overcoming the docetaxel resistance by cell cycle pharmacological inhibitors." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-956.

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Kerllen Martins, Waleska, Taynara Mazin Tsubone, Chimara Emilia Nascimento Sanches, et al. "ESTUDO COMPARATIVO DO ÁCIDO URSOLICO E ÁCIDO BETULÍNICO: POTENCIAIS TERAPÊUTICOS NA ONCOLOGIA." In ANAIS V CONTEC BRASIL 2024. Universidade Brasil, 2024. https://doi.org/10.63021/vcontec.978-6589249313.2024.art218.

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Os compostos naturais Ácido Ursolico (AU) e Ácido Betulínico (AB) apresentam citotoxicidade comparável em células humanas malignas, associada à modulação da autofagia1 . No entanto, ainda não está claro se o AU se comporta de maneira semelhante ao AB em células não malignas, especialmente considerando sua capacidade de interagir e danificar membranas. E tampouco considerando-se o perfil de expressão gênica diferencial de genes relacionados à autofagia. Usou-se para isso os dados públicos disponibilizados no GSE32474. Investigaram-se os efeitos desses triterpenoides sobre queratinócitos humanos
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