ArticleMolecular neurobiology2017
Identification of CHCHD10 Mutation in Chinese Patients with Alzheimer Disease.
Article in Molecular neurobiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- Mitochondrial cristae remodeling: Mechanisms, functions, and pathology.Cell insight · 2025Review
- Structures and functions of the MICOS: Pathogenesis and therapeutic implications in Alzheimer's disease.Acta pharmaceutica Sinica. B · 2025Review
- Combined impact ofFrontiers in neurology · 2025Article
- Mitochondrial regulation of local supply of energy in neurons.Current opinion in neurobiology · 2023Review
- CYLD variants identified in Alzheimer's disease and frontotemporal dementia patients.Annals of clinical and translational neurology · 2022Article
- Inhibiting amyloid beta (1-42) peptide-induced mitochondrial dysfunction prevents the degradation of synaptic proteins in the entorhinal cortex.Frontiers in aging neuroscience · 2022Article
- Neurodegeneration-associated mitochondrial proteins, CHCHD2 and CHCHD10-what distinguishes the two?Frontiers in cell and developmental biology · 2022Review
- The role of genetics in neurodegenerative dementia: a large cohort study in South China.NPJ genomic medicine · 2021Article
- The Genetics of Alzheimer's Disease in the Chinese Population.International journal of molecular sciences · 2020Review
- Twin CHCH Proteins, CHCHD2, and CHCHD10: Key Molecules of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Frontotemporal Dementia.International journal of molecular sciences · 2019Review
- Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications.The Lancet. Neurology · 2018Review
- In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions.Human molecular genetics · 2018Article
- MNRR1, a Biorganellar Regulator of Mitochondria.Oxidative medicine and cellular longevity · 2017Review
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CHCHD10 gene has been identified to be associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Considering the clinical phenotype and pathology characterization were overlapped between FTD and Alzheimer disease (AD), and so far, no systematic analysis of CHCHD10 mutation was conducted in patients with AD in Asian population. Therefore, we screened of all exons in CHCHD10 in a cohort of 484 AD patients (60 with family history) from Mainland China. A heterozygous variant p.A35D (c.104C>A), previously reported in a patient with FTD in Italian population, was identified in a female patient with sporadic LOAD. The age at onset of mutation carrier was 86, presented as typical amnestic dementia. The mutation was found to be deleterious according to in silico predictions and excluded in 500 ethnically and geographically matched controls. Our finding revealed the clinical manifestations of variant p.A35D (c.104C>A) in a LOAD case and indicated that CHCHD10 mutation was presented in different types of dementia.
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