Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

CHCHD10 gene

Known as: COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 10, CHCHD10, coiled-coil-helix-coiled-coil-helix domain containing 10 
 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions
Mutations in coiled-coil-helix-coiled-coil-helix-domain containing 10 (CHCHD10), a mitochondrial twin CX9C protein whose function… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Review
2018
Review
2018
Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications
BACKGROUND The disease course of amyotrophic lateral sclerosis (ALS) is rapid and, because its pathophysiology is unclear, few… Expand
  • figure 1
  • figure 2
Is this relevant?
2017
2017
Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients
Mutation screening and phenotypic profiling of 2 amyotrophic lateral sclerosis-(ALS) and frontotemporal dementia-(FTD) associated… Expand
  • table 1
  • figure 1
  • figure 2
Is this relevant?
2017
2017
Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity
Although multiple CHCHD10 mutations are associated with the spectrum of familial and sporadic frontotemporal dementia-amyotrophic… Expand
  • figure 1
  • figure 2
  • figure 4
  • figure 5
  • figure 6
Is this relevant?
Highly Cited
2016
Highly Cited
2016
CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis
CHCHD10-related diseases include mitochondrial DNA instability disorder, frontotemporal dementia-amyotrophic lateral sclerosis… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2015
2015
CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease
Objective:We describe the phenotype consistent with axonal Charcot-Marie-Tooth disease type 2 (CMT2) in 4 families with a c.197G… Expand
  • figure 1
  • figure 2
Is this relevant?
Highly Cited
2015
Highly Cited
2015
Mutation analysis of CHCHD10 in different neurodegenerative diseases.
Sir, A recent study by Bannwarth et al. (2014) implicated CHCHD10 as a novel gene for amyotrophic lateral sclerosis… Expand
  • figure 1
Is this relevant?
Highly Cited
2015
Highly Cited
2015
Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.
OBJECTIVE A study was undertaken to identify the responsible gene defect underlying late onset spinal motor neuronopathy (LOSMoN… Expand
Is this relevant?
Highly Cited
2014
Highly Cited
2014
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among which amyotrophic lateral sclerosis… Expand
  • figure 1
  • figure 2
  • table 2
  • figure 3
  • figure 4
Is this relevant?
2014
2014
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients
Mutations in the CHCHD10 gene have been recently identified in a large family with a complex phenotype variably associating… Expand
  • figure 1
Is this relevant?
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE