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Ganglioside-induced differentiation-associated protein 1

GDAP1, ganglioside-induced differentiation-associated protein 1
This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012] (from NCBI)
Top mentioned proteins: HSG, CMT2, MPP, MTMR2, CAN
Papers on GDAP1
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.
Haack et al., Salzburg, Austria. In J Med Genet, Feb 2016
Components of the fission machinery are partly shared between mitochondria and peroxisomes, and inherited defects in two such components (dynamin-related protein (DRP1) and ganglioside-induced differentiation-associated protein 1 (GDAP1)) have been associated with human disease.
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Orlacchio et al., Roma, Italy. In Brain, Jan 2016
Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6).
Charcot-Marie-Tooth disease: New insights from skin biopsy.
Santoro et al., Verona, Italy. In Neurology, Nov 2015
OBJECTIVE: To evaluate, by skin biopsy, dermal nerve fibers in 31 patients with 3 common Charcot-Marie-Tooth (CMT) genotypes (CMT1A, late-onset CMT1B, and CMTX1), and rarer forms of CMT caused by mutations in RAB7 (CMT2B), TRPV4 (CMT2C), and GDAP1 (AR-CMT2K) genes.
Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency.
Africk et al., New Orleans, United States. In Mol Syndromol, Oct 2015
The GDAP1 gene encoding ganglioside-induced differentiation-associated protein 1 was deleted in the patient as a part of the contiguous gene syndrome.
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.
Bellone et al., Genova, Italy. In Neuromuscul Disord, Oct 2015
UNASSIGNED: Mutations in the ganglioside-induced differentiation associated-protein 1 (GDAP1) gene have been associated with both autosomal recessive (AR) and dominant (AD) Charcot-Marie-Tooth (CMT) axonal neuropathy.
Mitochondrial dynamics and inherited peripheral nerve diseases.
Piscosquito et al., Milano, Italy. In Neurosci Lett, Jul 2015
Abnormalities of mitochondrial dynamics produced by mutations in proteins involved in mitochondrial fusion (mitofusin-2, MFN2), fission (ganglioside-induced differentiation-associated protein-1, GDAP1), and mitochondrial axonal transport usually present with a Charcot-Marie-Tooth disease (CMT) phenotype.
Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy.
Palau et al., Valencia, Spain. In Plos Genet, Apr 2015
Mutations in GDAP1, which encodes protein located in the mitochondrial outer membrane, cause axonal recessive (AR-CMT2), axonal dominant (CMT2K) and demyelinating recessive (CMT4A) forms of Charcot-Marie-Tooth (CMT) neuropathy.
Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update.
Vallat et al., Algiers, Algeria. In J Neurol Sci, 2015
In this regard, peripheral nerve lesions in GDAP1 mutations (AR CMT1A), such as mitochondrial abnormalities, have been newly demonstrated.
[Review of the recent literature on hereditary neuropathies].
Birouk, Rabat, Morocco. In Rev Neurol (paris), 2014
GDAP1 and MFN2 regulate the mitochondrial fission and fusion respectively and the mitochondial transport within the axon.
Intermediate Charcot-Marie-Tooth disease.
Zhang et al., Changsha, China. In Neurosci Bull, 2014
Moreover, GDAP1, KARS, and PLEKHG5 are associated with RI-CMT.
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy.
Hausmanowa-Petrusewicz et al., Warsaw, Poland. In Folia Neuropathol, 2014
The analysis of peripheral myelin protein 22 (PMP22), ganglioside induced differentiation-associated protein 1 (GDAP1), gap junction β-1 protein (GJB1), and myelin protein zero (MPZ) genes did not reveal mutations; however, we identified a new sequence intronic variant in the mitofusin 2 (MFN2) gene of unknown pathogenic significance.
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
Higgins et al., Houston, United States. In Mol Genet Genomic Med, 2014
We report the frequency, positive rate, and type of mutations in 14 genes (PMP22, GJB1, MPZ, MFN2, SH3TC2, GDAP1, NEFL, LITAF, GARS, HSPB1, FIG4, EGR2, PRX, and RAB7A) associated with Charcot-Marie-Tooth disease (CMT) in a cohort of 17,880 individuals referred to a commercial genetic testing laboratory.
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.
Leguern et al., Paris, France. In Jama Neurol, 2014
One patient carried a rare variant in the GDAP1 gene and another in the OPA1 gene in association with MFN2 mutation.
Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.
Methner et al., Düsseldorf, Germany. In Hum Mol Genet, 2012
Patients of type 4 Charcot-Marie-Tooth disease showed reduced GDAP1 levels, GHS concentration and mitochondrial membrane potential.
Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells.
Palau et al., Valencia, Spain. In J Biol Chem, 2011
Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.
Jordanova et al., Antwerp, Belgium. In Neurology, 2011
We show that patients with dominant GDAP1 mutations may display clear axonal Charcot-Marie-Tooth disease
Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations.
Choi et al., Kongju, South Korea. In J Peripher Nerv Syst, 2011
we report two recessive intermediate Charcot-Marie-Tooth (RI-CMT) patients with GDAP1 missense mutations
A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease.
Kochański et al., Warsaw, Poland. In Neurogenetics, 2011
Clinical outcome of Charcot-Marie-Tooth disease caused by mutations in the GDAP1 gene cannot be predicted solely on the basis of genetic results (missense/nonsense mutations).
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
Palau et al., Valencia, Spain. In Nat Genet, 2002
We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1.
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
Vance et al., Durham, United States. In Nat Genet, 2002
Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1).
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