Associated Papers
Unraveling GDAP1: Bridging Mitochondrial Biology and Peripheral Neuropathy.
Cantarero L et al.
Biomolecules, 2026
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 2025
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.
Cantarero L et al.
Biology Open, 2023
High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.
Ceylan GG et al.
Revista Da Associacao Medica Brasileira (1992), 2023
Conserved intramolecular networks in GDAP1 are closely connected to CMT-linked mutations and protein stability.
Sutinen A et al.
Plos One, 2023
Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.
Sutinen A et al.
Febs Open Bio, 2022
Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.
Yalcouyé A et al.
Journal of the Peripheral Nervous System : Jpns, 2022
Structure of the Complete Dimeric Human GDAP1 Core Domain Provides Insights into Ligand Binding and Clustering of Disease Mutations.
Nguyen GTT et al.
Frontiers in Molecular Biosciences, 2020
CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration.
González-Sánchez P et al.
Scientific Reports, 2017
Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.
Martin AM et al.
Colombia Medica (cali, Colombia), 2015
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
Fischer C et al.
Journal of Neurology, 2012
Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells.
Estela A et al.
The Journal of Biological Chemistry, 2011
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
Cassereau J et al.
Experimental Neurology, 2011
The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.
Fusco C et al.
Journal of Child Neurology, 2011
The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease.
Palau F et al.
Advances in Experimental Medicine and Biology, 2009
Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease.
Pedrola L et al.
Journal of Cellular and Molecular Medicine, 2008
A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.
Georgiou DM et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2006
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.
Niemann A et al.
The Journal of Cell Biology, 2005
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
Pedrola L et al.
Human Molecular Genetics, 2005
Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes.
Marco A et al.
Molecular Biology and Evolution, 2004
Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations.
De Sandre-Giovannoli A et al.
Journal of Medical Genetics, 2003
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.
Senderek J et al.
Brain : a Journal of Neurology, 2003
CMT4A: identification of a Hispanic GDAP1 founder mutation.
Boerkoel CF et al.
Annals of Neurology, 2003
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Nelis E et al.
Neurology, 2002
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
Baxter RV et al.
Nature Genetics, 2002