ArticleNeurogenetics2009
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K).
Article in Neurogenetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 84 citations in OpenAlex.
- The role of impaired mitochondrial function in neurological manifestations of mitochondrial diseases.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Genetic basis of Charcot-Marie-Tooth disease in Pakistani consanguineous families.Frontiers in neurology · 2026Article
- Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.Journal of the peripheral nervous system : JPNS · 2025Article
- Prostate cancer resistance leads to a global deregulation of translation factors and unconventional translation.NAR cancer · 2022Article
- Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.FEBS open bio · 2022Article
- Mitochondria-lysosome contact site dynamics and misregulation in neurodegenerative diseases.Trends in neurosciences · 2022Review
- Effective therapeutic strategies in a preclinical mouse model of Charcot-Marie-Tooth disease.Human molecular genetics · 2021Article
- GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons.Biomedicines · 2021Article
- Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy.BMC neurology · 2021Article
- Mutations inInternational journal of molecular sciences · 2021Article
- Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease.Annals of clinical and translational neurology · 2020Article
- Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.Journal of human genetics · 2020Article
- [Analysis ofNan fang yi ke da xue xue bao = Journal of Southern Medical University · 2019Article
- Disorders of mitochondrial dynamics in peripheral neuropathy: Clues from hereditary neuropathy and diabetes.International review of neurobiology · 2019Review
- Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations.Journal of neurology · 2018Article
- Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.Human molecular genetics · 2017Article
- Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.The American journal of pathology · 2016Review
- Spectrum of combined respiratory chain defects.Journal of inherited metabolic disease · 2015Review
- Intermediate Charcot-Marie-Tooth disease.Neuroscience bulletin · 2014Review
- Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.Neurogenetics · 2013Article
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-Tooth disease (CMT4A), have also been associated with CMT2K, a dominant form of the disease. The three CMT2K patients we studied carried a novel dominant GDAP1 mutation, C240Y (c.719G > A). Mitochondrial respiratory chain complex I activity in fibroblasts from CMT2K patients was 40% lower than in controls, whereas the tubular mitochondria were 33% larger in diameter and the mitochondrial mass was 20% greater. Thus, besides the regulatory role GDAP1 plays in mitochondrial network dynamics, it may also be involved in energy production and in the control of mitochondrial volume.
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