Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.

Item
http://www.wikidata.org/entity/Q38962062
Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathyGlutathione-conjugating and membrane-remodeling activity of GDAP1 relies on amphipathic C-terminal domainCa²⁺ microdomains organized by junctophilinsDistribution and genotype-phenotype correlation of GDAP1 mutations in Spain.CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration.Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway.An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
P2860

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.

Item
http://www.wikidata.org/entity/Q38962062
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.
@en
type
label
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.
@en
prefLabel
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698