GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

@article{Pedrola2005GDAP1TP,
  title={GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.},
  author={L. Pedrola and Antonio Espert and Xingyao Wu and R. Claramunt and M. Shy and F. Palau},
  journal={Human molecular genetics},
  year={2005},
  volume={14 8},
  pages={
          1087-94
        }
}
Mutations in GDAP1, the ganglioside-induced differentiation-associated protein 1 gene, cause Charcot-Marie-Tooth (CMT) type 4A, a severe autosomal recessive form of neuropathy associated with either demyelinating or axonal phenotypes. Here, we demonstrate that GDAP1 has far greater expression in neurons than in myelinating Schwann cells. We investigated cell localization of GDAP1 in a human neuroblastoma cell line by means of transient overexpression and co-localization with organelle markers… Expand
View on PubMed
academic.oup.com
163 Citations
Highly Influential Citations
13
Background Citations
68
Methods Citations
1
Results Citations
3

163 Citations

Citation Type

Citation Type

Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease
  • 60
Brain involvement in Charcot–Marie–Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation
Pathogenetic role of MFN2 gene: genetic analysis in patients with charcot-marie-tooth neuropathy and disease modeling in zebrafish
  • PDF
Mitochondrial dysfunction and pathophysiology of Charcot–Marie–Tooth disease involving GDAP1 mutations
  • 82
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network
  • 362
  • PDF
Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.
  • 65
  • PDF
Lack of GDAP1 Induces Neuronal Calcium and Mitochondrial Defects in a Knockout Mouse Model of Charcot-Marie-Tooth Neuropathy
  • 52
  • PDF
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot‐Marie‐Tooth disease
  • 60
Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap1: implications for the Charcot-Marie-Tooth neuropathy.
  • 31
  • PDF
Loss of Mtmr2 Phosphatase in Schwann Cells But Not in Motor Neurons Causes Charcot-Marie-Tooth Type 4B1 Neuropathy with Myelin Outfoldings
  • 94
  • Highly Influenced
  • PDF
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 37 REFERENCES
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.
  • 125
  • PDF
Mutations in GDAP1
  • 133
The gene encoding ganglioside- induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
  • 87
  • PDF
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease
  • 50
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
  • 337
Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes.
  • 87
  • PDF
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
  • 123
  • PDF
CMT4A: Identification of a Hispanic GDAP1 founder mutation
  • 61
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.
  • 103
  • PDF
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
  • 1,328
  • Highly Influential
  • PDF
...
1
2
3
4
...