Get started
Keyword

GDAP1

Description: A human protein-coding gene that encodes a mitochondrial protein involved in mitochondrial dynamics and associated with Charcot–Marie–Tooth disease.
Wikidata ID: wiki/Q18040981
OpenAlex ID: keywords/gdap1
Identification of type 2 diabetes loci in 433,540 East Asian individuals
2020 · Cassandra N. Spracklen, Momoko Horikoshi, et al. · Nature · 440
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network
2005 · Axel Niemann, Marcel Ruegg, et al. · The Journal of Cell Biology · 402
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
2001 · Rachel V. Baxter, Kamel Ben Othmane, et al. · Nature Genetics · 375
Mitochondrial fusion/fission dynamics in neurodegeneration and neuronal plasticity
2015 · A.M. Bertholet, T. Delerue, et al. · Neurobiology of Disease · 362
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
2001 · Ana Cuesta, Laia Pedrola, et al. · Nature Genetics · 361
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions
2023 · Nilufer Rahmioglu, Sally Mortlock, et al. · Nature Genetics · 305
Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease
2006 · Axel Niemann, Philipp Berger, et al. · NeuroMolecular Medicine · 183
Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot‐Marie‐Tooth disease)
2006 · Philipp Berger, Axel Niemann, et al. · Glia · 181
GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria
2005 · Laia Pedrola, Antonio Espert, et al. · Human Molecular Genetics · 179
Mutations in GDAP1
2002 · E. Nelis, S. Erdem, et al. · Neurology · 161
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
2005 · R Claramunt, L Pedrola, et al. · Journal of Medical Genetics · 151
PDF
GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance
2009 · Axel Niemann, Konstanze Marion Wagner, et al. · Neurobiology of Disease · 144
Genetic spectrum of hereditary neuropathies with onset in the first year of life
2011 · J. Baets, T. Deconinck, et al. · Brain · 137
PDF
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
2003 · J. Senderek · Brain · 133
Charcot-Marie-Tooth Disease Type 2A
2014 · Francesco Bombelli, Tanya Stojkovic, et al. · JAMA Neurology · 132
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy
2016 · Johannes Koch, René G Feichtinger, et al. · Journal of Medical Genetics · 127
Mitochondrial dynamics and inherited peripheral nerve diseases
2015 · Davide Pareyson, Paola Saveri, et al. · Neuroscience Letters · 123
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy
2008 · T. Sevilla, T. Jaijo, et al. · Brain · 102
Mitochondrial dysfunction and pathophysiology of Charcot–Marie–Tooth disease involving GDAP1 mutations
2010 · Julien Cassereau, Arnaud Chevrollier, et al. · Experimental Neurology · 101
Evolutionary and Structural Analyses of GDAP1, Involved in Charcot-Marie-Tooth Disease, Characterize a Novel Class of Glutathione Transferase-Related Genes
2003 · A. Marco · Molecular Biology and Evolution · 101
PDF
Autosomal-Recessive Forms of Demyelinating Charcot-Marie-Tooth Disease
2006 · O. Dubourg, H. Azzedine, et al. · NeuroMolecular Medicine · 97
Charcot‐Marie‐Tooth disease‐associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission
2013 · Nina Huber, Sofia Guimaraes, et al. · EMBO Reports · 94
PDF
The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan
2011 · Kon-Ping Lin, Bing-Wen Soong, et al. · PLoS ONE · 94
PDF
Charcot–Marie–Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential
2011 · Rebecca Noack, Svenja Frede, et al. · Human Molecular Genetics · 94
Hereditary motor and sensory neuropathies or Charcot–Marie–Tooth diseases: An update
2014 · Meriem Tazir, Tarik Hamadouche, et al. · Journal of the Neurological Sciences · 93
Works count: 397
Citation count: 8,758
Year
Topic
Type