The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
CHCHD 10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis
Open accessAbstract
CHCHD10-related diseases include mitochondrial DNA instability disorder, frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) clinical spectrum, late-onset spinal motor neuropathy (SMAJ), and Charcot-Marie-Tooth disease type 2 (CMT2). Here, we show that CHCHD10 resides with mitofilin, CHCHD3 and CHCHD6 within the "mitochondrial contact site and cristae organizing system" (MICOS) complex. CHCHD10 mutations lead to MICOS complex disassembly and loss of mitochondrial cristae with a decrease in nucleoid number and nucleoid disorganization. Repair of the mitochondrial genome after oxidative stress is impaired in CHCHD10 mutant fibroblasts and this likely explains the accumulation of deleted mtDNA molecules in patient muscle. CHCHD10 mutant fibroblasts are not defective in the delivery of mitochondria to lysosomes suggesting that impaired mitophagy does not contribute to mtDNA instability. Interestingly, the expression of CHCHD10 mutant alleles inhibits apoptosis by preventing cytochrome c release.
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Cites
Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2
Ferguson, C. J., Lenk, G. M., & Meisler, M. H. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp460 · Cited by 202
Tashiro, Y., Urushitani, M., Inoue, H., Koike, M., Uchiyama, Y., Komatsu, M., Tanaka, K., Yamazaki, M., Abe, M., Misawa, H., et al. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.417600 · Cited by 194
Mitochondrial nucleoid and transcription factor A
KANKI, T., NAKAYAMA, H., SASAKI, N., TAKIO, K., ALAM, T. I., HAMASAKI, N., & KANG, D. (2004) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1293.007 · Cited by 70
Cited by
Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis
Prasad, A., Bharathi, V., Sivalingam, V., Girdhar, A., & Patel, B. K. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2019.00025 · Cited by 774
Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications
Chia, R., Chiò, A., & Traynor, B. J. (2018) · The Lancet Neurology · doi:10.1016/s1474-4422(17)30401-5 · Cited by 573
The role of mitochondria in amyotrophic lateral sclerosis
Smith, E. F., Shaw, P. J., & De Vos, K. J. (2019) · Neuroscience Letters · doi:10.1016/j.neulet.2017.06.052 · Cited by 559
Genetics of FTLD : overview and what else we can expect from genetic studies
Pottier, C., Ravenscroft, T. A., Sanchez‐Contreras, M., & Rademakers, R. (2016) · Journal of Neurochemistry · doi:10.1111/jnc.13622 · Cited by 148
The role of mitochondrial dynamics in mtDNA maintenance
Sabouny, R., & Shutt, T. E. (2021) · Journal of Cell Science · doi:10.1242/jcs.258944 · Cited by 51
Metadata
- Authors
- Genin, E. C., Plutino, M., Bannwarth, S., Villa, E., Cisneros‐Barroso, E., Roy, M., Ortega‐Vila, B., Fragaki, K., Lespinasse, F., Pinero‐Martos, E., Augé, G., Moore, D., Burté, F., Lacas‐Gervais, S., Kageyama, Y., Itoh, K., Yu‐Wai‐Man, P., Sesaki, H., Ricci, J., Vives‐Bauza, C., & Paquis‐Flucklinger, V.
- Venue
- EMBO Molecular Medicine
- Published
- 2015-12-14
- Volume
- 8
- Issue
- 1
- Pages
- 58-72
- ISSN
- 1757-4676 (ISSN-L)
- 1757-4684
- OpenAlex
- W2193599075
- Cited by
- 199
- References
- 3
- FWCI
- 6.43
- Type
- journal article
- Language
- en
- Open access
- gold
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- Genin, E. C., Plutino, M., Bannwarth, S., Villa, E., Cisneros‐Barroso, E., Roy, M., Ortega‐Vila, B., Fragaki, K., Lespinasse, F., Pinero‐Martos, E., Augé, G., Moore, D., Burté, F., Lacas‐Gervais, S., Kageyama, Y., Itoh, K., Yu‐Wai‐Man, P., Sesaki, H., Ricci, J., . . . Paquis‐Flucklinger, V. (2016). CHCHD 10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis. EMBO Molecular Medicine. https://doi.org/10.15252/emmm.201505496
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
