NDV inhibited IFN-beta secretion through impeding CHCHD10-mediated mitochondrial fusion to promote viral proliferation. | NDV inhibited IFN-β secretion through impeding CHCHD10-mediated mitochondrial fusion to promote viral proliferation. Yu X, Jiang H, Li J, Ding J, Chen K, Ding Z, Xu X. | 02/22/2024 |
Disruption of Mitophagy Flux through the PARL-PINK1 Pathway by CHCHD10 Mutations or CHCHD10 Depletion. | Disruption of Mitophagy Flux through the PARL-PINK1 Pathway by CHCHD10 Mutations or CHCHD10 Depletion. Liu T, Wetzel L, Zhu Z, Kumaraguru P, Gorthi V, Yan Y, Bukhari MZ, Ermekbaeva A, Jeon H, Kee TR, Woo JA, Kang DE., Free PMC Article | 01/3/2024 |
Effects of the Jokela type of spinal muscular atrophy-related G66V mutation on the structural ensemble characteristics of CHCHD10. | Effects of the Jokela type of spinal muscular atrophy-related G66V mutation on the structural ensemble characteristics of CHCHD10. Alici H, Uversky VN, Kang DE, Woo JA, Coskuner-Weber O. | 05/4/2023 |
CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability. | CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability. Genin EC, Bannwarth S, Ropert B, Lespinasse F, Mauri-Crouzet A, Augé G, Fragaki K, Cochaud C, Donnarumma E, Lacas-Gervais S, Wai T, Paquis-Flucklinger V. | 10/29/2022 |
CHCHD10 Modulates Thermogenesis of Adipocytes by Regulating Lipolysis. | CHCHD10 Modulates Thermogenesis of Adipocytes by Regulating Lipolysis. Ding M, Ma YJ, Du RQ, Zhou WY, Dou X, Yang QQ, Tang Y, Qian SW, Liu Y, Pan DN, Tang QQ, Liu Y. | 08/27/2022 |
Modulation of synaptic plasticity, motor unit physiology, and TDP-43 pathology by CHCHD10. | Modulation of synaptic plasticity, motor unit physiology, and TDP-43 pathology by CHCHD10. Liu T, Woo JA, Bukhari MZ, Wang X, Yan Y, Buosi SC, Ermekbaeva A, Sista A, Kotsiviras P, LePochat P, Chacko A, Zhao X, Kang DE., Free PMC Article | 07/16/2022 |
Structures of the Wild-Type and S59L Mutant CHCHD10 Proteins Important in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia. | Structures of the Wild-Type and S59L Mutant CHCHD10 Proteins Important in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia. Alici H, Uversky VN, Kang DE, Woo JA, Coskuner-Weber O. | 04/30/2022 |
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses. | Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses. Straub IR, Weraarpachai W, Shoubridge EA., Free PMC Article | 04/2/2022 |
Meta-analysis of the association between CHCHD10 Pro34Ser variant and the risk of amyotrophic lateral sclerosis. | Meta-analysis of the association between CHCHD10 Pro34Ser variant and the risk of amyotrophic lateral sclerosis. Yang B, Yang C, Ren J, Zhong C, Liu K, Zhao L, Li L, Wang H, Zhu M, Lin Z. | 07/24/2021 |
ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons. | ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons. Harjuhaahto S, Rasila TS, Molchanova SM, Woldegebriel R, Kvist J, Konovalova S, Sainio MT, Pennonen J, Torregrosa-Muñumer R, Ibrahim H, Otonkoski T, Taira T, Ylikallio E, Tyynismaa H. | 07/17/2021 |
CHCHD10-regulated OPA1-mitofilin complex mediates TDP-43-induced mitochondrial phenotypes associated with frontotemporal dementia. | CHCHD10-regulated OPA1-mitofilin complex mediates TDP-43-induced mitochondrial phenotypes associated with frontotemporal dementia. Liu T, Woo JA, Bukhari MZ, LePochat P, Chacko A, Selenica MB, Yan Y, Kotsiviras P, Buosi SC, Zhao X, Kang DE., Free PMC Article | 01/16/2021 |
genetic variation is not a common cause of amyotrophic lateral sclerosis and frontotemporal dementia in Australia, but neuron-specific role and a loss of function may be | Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice. McCann EP, Fifita JA, Grima N, Galper J, Mehta P, Freckleton SE, Zhang KY, Henden L, Hogan AL, Chan Moi Fat S, Wu SS, Jagaraj CJ, Berning BA, Williams KL, Twine NA, Bauer D, Piguet O, Hodges J, Kwok JBJ, Halliday GM, Kiernan MC, Atkin J, Rowe DB, Nicholson GA, Walker AK, Blair IP, Yang S. | 07/11/2020 |
This study shows that routine testing for CHCHD10 mutations in pure ALS is not recommended and illustrates the importance of sufficient genetic and functional evidence in establishing pathogenicity of genetic variants | CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence? Project MinE ALS Sequencing Consortium., Free PMC Article | 08/10/2019 |
these findings demonstrate that differences in the stability and mutual affinity of CHCHD2 and CHCHD10 regulate their heterodimerization in response to mitochondrial distress, revealing an unanticipated link between Parkinson Disease and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia pathogenesis. | CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10. Huang X, Wu BP, Nguyen D, Liu YT, Marani M, Hench J, Bénit P, Kozjak-Pavlovic V, Rustin P, Frank S, Narendra DP., Free PMC Article | 05/11/2019 |
A novel CHCHD10 mutation is linked with mitochondrial import deficit in ALS. | A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS. Lehmer C, Schludi MH, Ransom L, Greiling J, Junghänel M, Exner N, Riemenschneider H, van der Zee J, Van Broeckhoven C, Weydt P, Heneka MT, Edbauer D., Free PMC Article | 04/27/2019 |
This studt did not found statistical differences in genotypic distribution between Parkinson's disease cases and control individuals for these variants in CHCHD10. | Identification of CHCHD10 variants in Chinese patients with Parkinson's disease. Zhou X, Liu Z, Guo J, Sun Q, Xu Q, Yan X, Tang B, Lei L., Free PMC Article | 04/13/2019 |
Data show that the CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease primarily based on haploinsufficiency of CHCHD10. | CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency. Brockmann SJ, Freischmidt A, Oeckl P, Müller K, Ponna SK, Helferich AM, Paone C, Reinders J, Kojer K, Orth M, Jokela M, Auranen M, Udd B, Hermann A, Danzer KM, Lichtner P, Walther P, Ludolph AC, Andersen PM, Otto M, Kursula P, Just S, Weishaupt JH. | 01/12/2019 |
Results indicate that CHCHD10-CHCHD2 complexes are necessary for efficient mitochondrial respiration, and support a role for mitochondrial dysfunction in some patients with ALS. | Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS. Straub IR, Janer A, Weraarpachai W, Zinman L, Robertson J, Rogaeva E, Shoubridge EA., Free PMC Article | 01/5/2019 |
Evidence obtained from in vitro and in vivo studies suggest that CHCHD10 mutants cause disease through a gain of toxic function mechanism, rather than a loss of function. | In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions. Burstein SR, Valsecchi F, Kawamata H, Bourens M, Zeng R, Zuberi A, Milner TA, Cloonan SM, Lutz C, Barrientos A, Manfredi G., Free PMC Article | 01/5/2019 |
results reveal that CHCHD10 positively regulates mitochondrial respiration and contributes to transcriptional repression of ORE-containing genes in the nucleus, and that genetic CHCHD10 variants are impaired in these activities. | The cellular stress proteins CHCHD10 and MNRR1 (CHCHD2): Partners in mitochondrial and nuclear function and dysfunction. Purandare N, Somayajulu M, Hüttemann M, Grossman LI, Aras S., Free PMC Article | 12/29/2018 |
CHCHD10 mutations have a role in cytoplasmic TDP-43 accumulation and synaptic integrity | Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity. Woo JA, Liu T, Trotter C, Fang CC, De Narvaez E, LePochat P, Maslar D, Bukhari A, Zhao X, Deonarine A, Westerheide SD, Kang DE., Free PMC Article | 12/22/2018 |
In Finnish cohorts with motor neuron disease, heterozygous mutation c.197G>T p.G66V in CHCHD10 was detected in 23 patients. In two siblings with a cramping disorder and mitochondrial pathology, heterozygous c.100C>T p.P34S was detected. | CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients. Penttilä S, Jokela M, Saukkonen AM, Toivanen J, Palmio J, Lähdesmäki J, Sandell S, Shcherbii M, Auranen M, Ylikallio E, Tyynismaa H, Udd B. | 11/3/2018 |
Homozygous Pro96Thr mutation in CHCHD10 might be pathogenic to mitochondrial myopathy. | Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy. Rubino E, Zhang M, Mongini T, Boschi S, Vercelli L, Vacca A, Govone F, Gai A, Giordana MT, Grinberg M, Rogaeva E, Rainero I. | 10/6/2018 |
Screening of MAPT, GRN and CHCHD10 genes in Chinese patients with frontotemporal dementia (FTD) identified about 4.9% mutation carriers. Among the known FTD causative genes tested, MAPT and CHCHD10 play the most important roles in Chinese patients with sporadic FTD. | Genetic Features of MAPT, GRN, C9orf72 and CHCHD10 Gene Mutations in Chinese Patients with Frontotemporal Dementia. Che XQ, Zhao QH, Huang Y, Li X, Ren RJ, Chen SD, Wang G, Guo QH. | 06/2/2018 |
that CHCHD10 mutation was presented in different types of dementia | Identification of CHCHD10 Mutation in Chinese Patients with Alzheimer Disease. Xiao T, Jiao B, Zhang W, Pan C, Wei J, Liu X, Zhou Y, Zhou L, Tang B, Shen L. | 05/12/2018 |