Associated Papers
Relationships of GDAP1 Mutations to Disease Phenotype and Mechanisms of Therapeutic Action of Oxidative Metabolism Activators in a Patient with Charcot-Marie-Tooth Neuropathy Type 2K.
Borisova NR et al.
Biochemistry. Biokhimiia, 2025
Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects.
Manzoor U et al.
Journal, Genetic Engineering & Biotechnology, 2023
Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.
Cantarero L et al.
Biology Open, 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
An axonal Charcot-Marie-Tooth disease associated with a homozygous GDAP1 gene mutation in two siblings from Bangladesh: a less severe phenotype.
Correia Rodrigues C et al.
Acta Neurologica Belgica, 2022
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center.
Argente-Escrig H et al.
Annals of Clinical and Translational Neurology, 2021
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
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF et al.
Journal of Neurochemistry, 2017
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Sivera R et al.
Scientific Reports, 2017
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: genetic and clinical spectrum in a Spanish clinical series.
Sivera R et al.
Neurology, 2013
Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry.
Pla-Martín D et al.
Neurobiology of Disease, 2013
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
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype.
Kabzińska D et al.
Neurogenetics, 2010
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
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.
Sevilla T et al.
Brain : a Journal of Neurology, 2008
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
Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.
Kabzińska D et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
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
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Nelis E et al.
Neurology, 2002