A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease

scientific article published on 02 March 2011

A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/S10048-011-0276-7
P698PubMed publication ID21365284

P50authorIrena Hausmanowa-PetrusewiczQ11713754
Andrzej KochańskiQ16528706
Ueli SuterQ28606521
Axel NiemannQ57409015
Anna Potulska-ChromikQ59707998
Dagmara KabzińskaQ88527447
Hanna DracQ117228481
P2093author name stringNina Huber
P2860cites workGDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondriaQ24298171
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effectQ24673702
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 geneQ28198618
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21Q28211121
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A diseaseQ28211137
CMT4A: identification of a Hispanic GDAP1 founder mutationQ28211624
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathyQ28219014
Targeting and function of the mitochondrial fission factor GDAP1 are dependent on its tail-anchorQ33425877
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth diseaseQ36320982
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.Q38902359
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.Q38917044
GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.Q39794846
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotypeQ48267649
The phenotypic manifestations of chromosome 17p11.2 duplicationQ48776212
Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathyQ70829431
Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplicationQ71590569
Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liabilitQ73351992
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotypeQ83194092
P433issue2
P304page(s)145-153
P577publication date2011-03-02
P1433published inNeurogeneticsQ15710048
P1476titleA new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease
P478volume12

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cites work (P2860)
Q26824841Charcot-Marie-Tooth disease and intracellular traffic
Q36907263Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission.
Q39212369Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review
Q36907760PATHOLOGIES OF AXONAL TRANSPORT IN NEURODEGENERATIVE DISEASES
Q90399043Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model
Q37590667The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.

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