Articoli di riviste sul tema "CHCHD10"
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Zhou, Wei, Dongrui Ma e Eng-King Tan. "Mitochondrial CHCHD2 and CHCHD10: Roles in Neurological Diseases and Therapeutic Implications". Neuroscientist 26, n. 2 (16 settembre 2019): 170–84. http://dx.doi.org/10.1177/1073858419871214.
Liu, Tian, Liam Wetzel, Zexi Zhu, Pavan Kumaraguru, Viraj Gorthi, Yan Yan, Mohammed Zaheen Bukhari et al. "Disruption of Mitophagy Flux through the PARL-PINK1 Pathway by CHCHD10 Mutations or CHCHD10 Depletion". Cells 12, n. 24 (7 dicembre 2023): 2781. http://dx.doi.org/10.3390/cells12242781.
Imai, Yuzuru, Hongrui Meng, Kahori Shiba-Fukushima e Nobutaka Hattori. "Twin CHCH Proteins, CHCHD2, and CHCHD10: Key Molecules of Parkinson’s Disease, Amyotrophic Lateral Sclerosis, and Frontotemporal Dementia". International Journal of Molecular Sciences 20, n. 4 (20 febbraio 2019): 908. http://dx.doi.org/10.3390/ijms20040908.
Gomez, Adriana Morales, Nathan Staff e Stephen C. Ekker. "288 Harnessing the potential of transcriptional adaptation as a mechanism for Amyotrophic lateral sclerosis". Journal of Clinical and Translational Science 7, s1 (aprile 2023): 86. http://dx.doi.org/10.1017/cts.2023.344.
Gomez, Adriana Morales, Nathan Staff e Stephen C. Ekker. "320 Genetic Compensation as a mechanism underlying patients with Rare ALS". Journal of Clinical and Translational Science 6, s1 (aprile 2022): 57. http://dx.doi.org/10.1017/cts.2022.178.
Gomez, Adriana Morales, Nathan Staff e Stephen C. Ekker. "393 Harnessing the potential of transcriptional adaptation as a mechanism for rare Amyotrophic lateral sclerosis". Journal of Clinical and Translational Science 8, s1 (aprile 2024): 117. http://dx.doi.org/10.1017/cts.2024.343.
Keith, Julia L., Emily Swinkin, Andrew Gao, Samira Alminawi, Ming Zhang, Philip McGoldrick, Paul McKeever, Janice Robertson, Ekaterina Rogaeva e Lorne Zinman. "Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis". Neurology Genetics 6, n. 1 (13 gennaio 2020): e394. http://dx.doi.org/10.1212/nxg.0000000000000394.
McCann, Emily P., Jennifer A. Fifita, Natalie Grima, Jasmin Galper, Prachi Mehta, Sarah E. Freckleton, Katharine Y. Zhang et al. "Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice". Journal of Neurology, Neurosurgery & Psychiatry 91, n. 2 (5 novembre 2019): 162–71. http://dx.doi.org/10.1136/jnnp-2019-321790.
Xiao, Yatao, Jianmin Zhang, Xiaoqiu Shu, Lei Bai, Wentao Xu, Ailian Wang, Aizhong Chen et al. "Loss of mitochondrial protein CHCHD10 in skeletal muscle causes neuromuscular junction impairment". Human Molecular Genetics 29, n. 11 (2 luglio 2019): 1784–96. http://dx.doi.org/10.1093/hmg/ddz154.
Grossman, Lawrence I., Neeraja Purandare, Rooshan Arshad, Stephanie Gladyck, Mallika Somayajulu, Maik Hüttemann e Siddhesh Aras. "MNRR1, a Biorganellar Regulator of Mitochondria". Oxidative Medicine and Cellular Longevity 2017 (2017): 1–12. http://dx.doi.org/10.1155/2017/6739236.
Straub, Isabella R., Alexandre Janer, Woranontee Weraarpachai, Lorne Zinman, Janice Robertson, Ekaterina Rogaeva e Eric A. Shoubridge. "Loss of CHCHD10–CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS". Human Molecular Genetics 27, n. 1 (7 novembre 2017): 178–89. http://dx.doi.org/10.1093/hmg/ddx393.
Ayoubi, Riham, Walaa Alshafie, Kathleen Southern, Peter S. McPherson e Carl Laflamme. "The identification of high-performing antibodies for Coiled-coil-helix-coiled-coil-helix domain containing protein 10 (CHCHD10) for use in Western Blot, immunoprecipitation and immunofluorescence". F1000Research 12 (26 luglio 2023): 403. http://dx.doi.org/10.12688/f1000research.133479.2.
Ayoubi, Riham, Walaa Alshafie, Kathleen Southern, Peter S. McPherson e Carl Laflamme. "The identification of high-performing antibodies for Coiled-coil-helix-coiled-coil-helix domain containing protein 10 (CHCHD10) for use in Western Blot, immunoprecipitation and immunofluorescence". F1000Research 12 (14 aprile 2023): 403. http://dx.doi.org/10.12688/f1000research.133479.1.
Huang, Xiaoping, Beverly P. Wu, Diana Nguyen, Yi-Ting Liu, Melika Marani, Jürgen Hench, Paule Bénit et al. "CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10". Human Molecular Genetics 28, n. 2 (4 ottobre 2018): 349. http://dx.doi.org/10.1093/hmg/ddy340.
Rubino, Elisa, Livia Brusa, Ming Zhang, Silvia Boschi, Flora Govone, Alessandro Vacca, Annalisa Gai et al. "Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson's disease". Neurobiology of Aging 53 (maggio 2017): 193.e7–193.e8. http://dx.doi.org/10.1016/j.neurobiolaging.2016.12.027.
Rubino, Elisa, Ming Zhang, Tiziana Mongini, Silvia Boschi, Liliana Vercelli, Alessandro Vacca, Flora Govone et al. "Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy". Neurobiology of Aging 66 (giugno 2018): 181.e1–181.e2. http://dx.doi.org/10.1016/j.neurobiolaging.2018.02.007.
Zhou, Wei, Dongrui Ma, Alfred Xuyang Sun, Hoang-Dai Tran, Dong-liang Ma, Brijesh K. Singh, Jin Zhou et al. "PD-linked CHCHD2 mutations impair CHCHD10 and MICOS complex leading to mitochondria dysfunction". Human Molecular Genetics 28, n. 7 (29 novembre 2018): 1100–1116. http://dx.doi.org/10.1093/hmg/ddy413.
Kobayashi, Yuri, Shinya Kusakari, Hiroaki Suzuki e Masaaki Matsuoka. "Analysis of molecular mechanism underlying cell death induced by an ALS/FTD-causative gene CHCHD10, S59L-CHCHD10". Proceedings for Annual Meeting of The Japanese Pharmacological Society 92 (2019): 1—SS—71. http://dx.doi.org/10.1254/jpssuppl.92.0_1-ss-71.
Liu, Yi-Ting, Xiaoping Huang, Diana Nguyen, Mario K. Shammas, Beverly P. Wu, Eszter Dombi, Danielle A. Springer, Joanna Poulton, Shiori Sekine e Derek P. Narendra. "Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations". Human Molecular Genetics 29, n. 9 (27 aprile 2020): 1547–67. http://dx.doi.org/10.1093/hmg/ddaa077.
Purandare, Neeraja, Mallika Somayajulu, Maik Hüttemann, Lawrence I. Grossman e Siddhesh Aras. "The cellular stress proteins CHCHD10 and MNRR1 (CHCHD2): Partners in mitochondrial and nuclear function and dysfunction". Journal of Biological Chemistry 293, n. 17 (14 marzo 2018): 6517–29. http://dx.doi.org/10.1074/jbc.ra117.001073.
Mao, Chengyuan, Herui Wang, Haiyang Luo, Shuyu Zhang, Huisha Xu, Shuo Zhang, Jared Rosenblum et al. "CHCHD10 is involved in the development of Parkinson's disease caused by CHCHD2 loss-of-function mutation p.T61I". Neurobiology of Aging 75 (marzo 2019): 38–41. http://dx.doi.org/10.1016/j.neurobiolaging.2018.10.020.
Harjuhaahto, Sandra, Tiina S. Rasila, Svetlana M. Molchanova, Rosa Woldegebriel, Jouni Kvist, Svetlana Konovalova, Markus T. Sainio et al. "ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons". Neurobiology of Disease 141 (luglio 2020): 104940. http://dx.doi.org/10.1016/j.nbd.2020.104940.
van Rheenen, Wouter, Frank P. Diekstra, Leonard H. van den Berg e Jan H. Veldink. "Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?" Brain 137, n. 12 (10 ottobre 2014): e313-e313. http://dx.doi.org/10.1093/brain/awu299.
Brockmann, Sarah J., Axel Freischmidt, Patrick Oeckl, Kathrin Müller, Srinivas K. Ponna, Anika M. Helferich, Christoph Paone et al. "CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency". Human Molecular Genetics 27, n. 4 (5 gennaio 2018): 706–15. http://dx.doi.org/10.1093/hmg/ddx436.
Zhou, Xiaoxia, Zhenhua Liu, Jifeng Guo, Qiying Sun, Qian Xu, Xinxiang Yan, Beisha Tang e Lifang Lei. "Identification of CHCHD10 variants in Chinese patients with Parkinson's disease". Parkinsonism & Related Disorders 47 (febbraio 2018): 96–97. http://dx.doi.org/10.1016/j.parkreldis.2017.12.002.
Xiao, Tingting, Bin Jiao, Weiwei Zhang, Chuzheng Pan, Jingya Wei, Xiaoyan Liu, Yafang Zhou, Lin Zhou, Beisha Tang e Lu Shen. "Identification of CHCHD10 Mutation in Chinese Patients with Alzheimer Disease". Molecular Neurobiology 54, n. 7 (30 agosto 2016): 5243–47. http://dx.doi.org/10.1007/s12035-016-0056-3.
Straub, Isabella R., Woranontee Weraarpachai e Eric A. Shoubridge. "Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses". Human Molecular Genetics 30, n. 8 (22 marzo 2021): 687–705. http://dx.doi.org/10.1093/hmg/ddab078.
Che, Xiangqian, e Gang Wang. "P3-130: GENETIC FEATURES OF MAPT , GRN , C9ORF72 CHCHD2 , CHCHD10 AND SIGMAR1 GENE MUTATIONS IN CHINESE PATIENTS WITH FRONTOTEMPORAL DEMENTIA". Alzheimer's & Dementia 15 (luglio 2019): P980—P981. http://dx.doi.org/10.1016/j.jalz.2019.06.3158.
Li, Xiao Ling, Shi Shu, Xiao Guang Li, Qing Liu, Fang Liu, Bo Cui, Ming Sheng Liu, Bin Peng, Li Ying Cui e Xue Zhang. "CHCHD10 is not a frequent causative gene in Chinese ALS patients". Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 17, n. 5-6 (14 aprile 2016): 458–60. http://dx.doi.org/10.3109/21678421.2016.1170151.
Bannwarth, Sylvie, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C. Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso et al. "Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?" Brain 137, n. 12 (10 ottobre 2014): e314-e314. http://dx.doi.org/10.1093/brain/awu300.
Penttilä, Sini, Manu Jokela, Anna Maija Saukkonen, Jari Toivanen, Johanna Palmio, Janne Lähdesmäki, Satu Sandell et al. "CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients". Journal of Neurology, Neurosurgery & Psychiatry 88, n. 3 (3 novembre 2016): 272–77. http://dx.doi.org/10.1136/jnnp-2016-314154.
Teyssou, Elisa, Laura Chartier, Mélanie Albert, Alexandra Bouscary, Jean-Christophe Antoine, Jean-Philippe Camdessanché, Francesco Rotolo et al. "Genetic analysis of CHCHD10 in French familial amyotrophic lateral sclerosis patients". Neurobiology of Aging 42 (giugno 2016): 218.e1–218.e3. http://dx.doi.org/10.1016/j.neurobiolaging.2016.03.022.
Penttilä, S., M. Jokela, A. Saukkonen, J. Toivanen e B. Udd. "Occurrence of CHCHD10 mutations in Finnish patients with motor neuron disorder". Neuromuscular Disorders 25 (ottobre 2015): S224. http://dx.doi.org/10.1016/j.nmd.2015.06.143.
Shen, Shen, Ji He, Lu Tang, Nan Zhang e Dongsheng Fan. "CHCHD10 mutations in patients with amyotrophic lateral sclerosis in Mainland China". Neurobiology of Aging 54 (giugno 2017): 214.e7–214.e10. http://dx.doi.org/10.1016/j.neurobiolaging.2017.02.011.
Jokela, Manu E., Juho Joutsa e Bjarne Udd. "Evolving neuromuscular phenotype in a patient with a heterozygous CHCHD10 p.G66V mutation". Journal of Neurology 263, n. 7 (13 maggio 2016): 1461–62. http://dx.doi.org/10.1007/s00415-016-8134-z.
Woo, Jung A. A., Tian Liu, Courtney Penn, Emilio De Narvaez, Drew Maslar, Cenxiao Fang, Anusha Bukhari et al. "P4-090: Chchd10 Mutations Synergize with TDP-43 to Promote Neuronal Apoptosis". Alzheimer's & Dementia 12 (luglio 2016): P1046—P1047. http://dx.doi.org/10.1016/j.jalz.2016.06.2179.
Bannwarth, Sylvie, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C. Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso et al. "A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement". Brain 137, n. 8 (13 giugno 2014): 2329–45. http://dx.doi.org/10.1093/brain/awu138.
Zhou, QingQing, YongPing Chen, QianQian Wei, Bei Cao, Ying Wu, Bi Zhao, RuWei Ou et al. "Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis". Molecular Neurobiology 54, n. 5 (7 aprile 2016): 3189–94. http://dx.doi.org/10.1007/s12035-016-9888-0.
Gladyck, Stephanie, Siddhesh Aras, Maik Hüttemann e Lawrence I. Grossman. "Regulation of COX Assembly and Function by Twin CX9C Proteins—Implications for Human Disease". Cells 10, n. 2 (20 gennaio 2021): 197. http://dx.doi.org/10.3390/cells10020197.
Johnson, Janel O., Shannon M. Glynn, J. Raphael Gibbs, Mike A. Nalls, Mario Sabatelli, Gabriella Restagno, Vivian E. Drory, Adriano Chiò, Ekaterina Rogaeva e Bryan J. Traynor. "Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis". Brain 137, n. 12 (26 settembre 2014): e311-e311. http://dx.doi.org/10.1093/brain/awu265.
Martherus, Ruben S. R. M., Willem Sluiter, Erika D. J. Timmer, Sabina J. V. VanHerle, Hubert J. M. Smeets e Torik A. Y. Ayoubi. "Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association". Biochemical and Biophysical Research Communications 402, n. 2 (novembre 2010): 203–8. http://dx.doi.org/10.1016/j.bbrc.2010.09.109.
Kusakari, Shinya, Yuri Kobayashi, Hiroaki Suzuki e Masaaki Matsuoka. "Analysis of molecular mechanism underlying cell death induced by an ALS/FTD-causative gene CHCHD10". Proceedings for Annual Meeting of The Japanese Pharmacological Society 95 (2022): 3—O—115. http://dx.doi.org/10.1254/jpssuppl.95.0_3-o-115.
Bannwarth, Sylvie, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C. Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso et al. "Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis". Brain 137, n. 12 (26 settembre 2014): e312-e312. http://dx.doi.org/10.1093/brain/awu267.
Liu, Tian, Jung‐A A. Woo, Mohammed Zaheen Bukhari, Patrick LePochat, Ann Chacko, Maj‐Linda B. Selenica, Yan Yan et al. "CHCHD10‐regulated OPA1‐mitofilin complex mediates TDP‐43‐induced mitochondrial phenotypes associated with frontotemporal dementia". FASEB Journal 34, n. 6 (5 maggio 2020): 8493–509. http://dx.doi.org/10.1096/fj.201903133rr.
Perrone, Federica, Hung Phuoc Nguyen, Sara Van Mossevelde, Matthieu Moisse, Anne Sieben, Patrick Santens, Jan De Bleecker et al. "Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients". Neurobiology of Aging 51 (marzo 2017): 177.e9–177.e16. http://dx.doi.org/10.1016/j.neurobiolaging.2016.12.008.
Chaussenot, Annabelle, Isabelle Le Ber, Sylvie Bannwarth, Samira Ait El Kadem, Annie Verschueren, Jean Pouget e Véronique Paquis-Flucklinger. "Preuve d’une origine mitochondriale pour les phénotypes SLA/DFT à travers l’identification d’un nouveau gène CHCHD10". Revue Neurologique 171 (aprile 2015): A209—A210. http://dx.doi.org/10.1016/j.neurol.2015.01.476.
Ajroud-Driss, S., F. Fecto, K. Ajroud e T. Siddique. "Mutations in the Nuclear Encoded Novel Mitochondrial Protein CHCHD10 Cause an Autosomal Dominant Mitochondrial Myopathy (S55.001)". Neurology 78, Meeting Abstracts 1 (22 aprile 2012): S55.001. http://dx.doi.org/10.1212/wnl.78.1_meetingabstracts.s55.001.
Müller, Kathrin, Peter M. Andersen, Annemarie Hübers, Nicolai Marroquin, Alexander E. Volk, Karin M. Danzer, Thomas Meitinger, Albert C. Ludolph, Tim M. Strom e Jochen H. Weishaupt. "Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease". Brain 137, n. 12 (9 agosto 2014): e309-e309. http://dx.doi.org/10.1093/brain/awu227.
Fratter, C., E. Dombi, J. Carver, K. Sergeant, I. A. Barbosa, M. Hofer, M. Esiri et al. "Mitochondrial disease and lipid storage myopathy due to mutation in CHCHD10 or DNM1L and disordered mitochondrial dynamics". Neuromuscular Disorders 27 (marzo 2017): S21. http://dx.doi.org/10.1016/s0960-8966(17)30279-1.
Ajroud-Driss, Senda, Faisal Fecto, Kaouther Ajroud, Irfan Lalani, Sarah E. Calvo, Vamsi K. Mootha, Han-Xiang Deng et al. "Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy". neurogenetics 16, n. 1 (6 settembre 2014): 1–9. http://dx.doi.org/10.1007/s10048-014-0421-1.