Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model

scientific article published on 14 March 2020

Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.3390/GENES11030310
P932PMC publication ID7140815
P698PubMed publication ID32183277

P50authorWeronika RzepnikowskaQ63913490
Joanna KamińskaQ73559039
Dagmara KabzińskaQ88527447
P2093author name stringAndrzej Kochański
P2860cites workGDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondriaQ24298171
Dominant GDAP1 mutations cause predominantly mild CMT phenotypesQ24313568
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effectQ24673702
Nuclear mutations in Saccharomyces cerevisiae that affect the escape of DNA from mitochondria to the nucleus.Q27933763
ER-associated mitochondrial division links the distribution of mitochondria and mitochondrial DNA in yeastQ27935426
Yeast vectors for the controlled expression of heterologous proteins in different genetic backgroundsQ28131643
Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase geneQ28142379
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 geneQ28187910
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
Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A diseaseQ28854289
Targeting and function of the mitochondrial fission factor GDAP1 are dependent on its tail-anchorQ33425877
Mitochondria-targeted green fluorescent proteins: convenient tools for the study of organelle biogenesis in Saccharomyces cerevisiae.Q50508560
Mitochondrial DNA impacts the morphology of mitochondrial compartments.Q50768266
Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT DiseaseQ61813426
Mechanisms of mitochondrial DNA escape to the nucleus in the yeast Saccharomyces cerevisiaeQ73132963
Migration of mtDNA into the nucleusQ74108392
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotypeQ83194092
A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C diseaseQ83509190
A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutationQ85842522
A role for the GDAP1 gene in the molecular pathogenesis of Charcot‑Marie‑Tooth diseaseQ95524349
Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cellsQ35378088
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyQ35984327
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth diseaseQ36320982
Clan genomics and the complex architecture of human diseaseQ36851578
The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.Q37590667
ER-mitochondria contacts couple mtDNA synthesis with mitochondrial division in human cellsQ38758060
Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entryQ39173361
Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.Q39464441
GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.Q39794846
CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration.Q42320574
Sphingolipid accumulation causes mitochondrial dysregulation and cell deathQ46322324
Escape of mitochondrial DNA to the nucleus in yme1 yeast is mediated by vacuolar-dependent turnover of abnormal mitochondrial compartments.Q47768491
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue3
P577publication date2020-03-14
P1433published inGenesQ5532699
P1476titlePathogenic Effect of GDAP1 Gene Mutations in a Yeast Model
P478volume11

Search more.