ArticleOrphanet journal of rare diseases2011
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.
Article in Orphanet journal of rare diseases, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 38 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
- An axonal Charcot-Marie-Tooth disease associated with a homozygous GDAP1 gene mutation in two siblings from Bangladesh: a less severe phenotype.Acta neurologica Belgica · 2022Article
- Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants.Case reports in medicine · 2022Article
- Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.Frontiers in cell and developmental biology · 2021Article
- Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease.Annals of clinical and translational neurology · 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
- NovelBioMed research international · 2019Article
- Mitochondrial Dynamics in Stem Cells and Differentiation.International journal of molecular sciences · 2018Review
- Cortical astroglia undergo transcriptomic dysregulation in the G93A SOD1 ALS mouse model.Journal of neurogenetics · 2018Article
- Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations.Journal of neurology · 2018Article
- The Peroxisome-Mitochondria Connection: How and Why?International journal of molecular sciences · 2017Review
- Glutathione-conjugating and membrane-remodeling activity of GDAP1 relies on amphipathic C-terminal domain.Scientific reports · 2016Article
- Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.The American journal of pathology · 2016Review
- Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy.PLoS genetics · 2015Article
- The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2014Article
- Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission.EMBO reports · 2013Article
- Metabolic Stress and Disorders Related to Alterations in Mitochondrial Fission or Fusion.Molecular and cellular pharmacology · 2013Article
- Congenital sensorineural deafness in dalmatian dogs associated with quantitative trait loci.PloS one · 2013Article
- Toward a mtDNA locus-specific mutation database using the LOVD platform.Human mutation · 2012Article
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7 authors at 4 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundThe ganglioside-induced differentiation-associated protein 1 gene (GDAP1), which is involved in the Charcot-Marie-Tooth disease (CMT), the most commonly inherited peripheral neuropathy, encodes a protein anchored to the mitochondrial outer membrane. The phenotypic presentations of patients carrying GDAP1 mutations are heterogeneous, making it difficult to determine genotype-phenotype correlations, since the majority of the mutations have been found in only a few unrelated patients. Locus-specific databases (LSDB) established in the framework of the Human Variome Project provide powerful tools for the investigation of such rare diseases. METHODS AND
resultsWe report the development of a publicly accessible LSDB for the GDAP1 gene. The GDAP1 LSDB has adopted the Leiden Open-source Variation Database (LOVD) software platform. This database, which now contains 57 unique variants reported in 179 cases of CMT, offers a detailed description of the molecular, clinical and electrophysiological data of the patients. The usefulness of the GDAP1 database is illustrated by the finding that GDAP1 mutations lead to primary axonal damage in CMT, with secondary demyelination in the more severe cases of the disease.
conclusionFindings of this nature should lead to a better understanding of the pathophysiology of CMT. Finally, the GDAP1 LSDB, which is part of the mitodyn.org portal of databases of genes incriminated in disorders involving mitochondrial dynamics and bioenergetics, should yield new insights into mitochondrial diseases.
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