Property Summary

NCBI Gene PubMed Count 61
Grant Count 30
R01 Count 3
Funding $2,511,279.06
PubMed Score 95.02
PubTator Score 113.25

Knowledge Summary

Patent

No data available

Expression

Gene RIF (41)

PMID Text
26525999 This study suggest GDAP1 as the first gene that should be analysed in Italian patients affected by CMT2.
25429913 The novelty of our data is the relatively high frequency of SH3TC2 and GDAP1 mutations in demyelinating and axonal forms, respectively, of Charcot-Marie-Tooth disease
25337607 study reports on 2 Charcot-Marie-Tooth (CMT) families in which a newly identified Glu222Lys mutation within the GDAP1 gene segregates both in autosomal dominant and recessive traits
25168384 Results show that JPH1 and GDAP1 share a common pathway and depend on each other; therefore, JPH1 can contribute to the phenotypical consequences of GDAP1 mutations.
23628762 GDAP1 regulates mitochondrial and peroxisomal fission by a similar mechanism.
23542510 This studies suggest that the pathophysiology of GDAP1-related CMT neuropathies may be associated with abnormal distribution and movement of mitochondria throughout cytoskeleton towards the ER and subplasmalemmal microdomains.
23456260 GDAP1-associated polyneuropathy caused predominantly a mild and slowly progressive phenotype.
23147504 This study suggested that the mutation of GDAP1 cased onion bulb-like formations of schwann cell in peripheral neuropathies.
22971097 A novel heterozygous missense mutation (Arg120Gly) in the GDAP1 gene co-segregates with the disease within the pedigree of an Italian Charcot-Marie-Tooth disease type 2 (CMT2) family.
22546700 A French family with Charcot-Marie-Tooth disease is related to simultaneous heterozygous MFN2 and GDAP1 mutations.
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AA Sequence

MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMR      1 - 70
LNSTGEVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGC     71 - 140
ILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILD    141 - 210
ELEKVLDQVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYY    211 - 280
ERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILA    281 - 350
FRPRPNYF                                                                  351 - 358
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Text Mined References (64)

PMID Year Title
26525999 2016 GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.
25621951 2015 USP30 and parkin homeostatically regulate atypical ubiquitin chains on mitochondria.
25429913 2014 Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
25337607 2014 A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.
25168384 2015 Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.
24627108 2014 Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
23628762 2013 Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission.
23542510 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.
23456260 2013 Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.
23147504 2012 Mitochondria and peripheral neuropathies.
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