Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.
about
PARK14 PLA2G6 mutants are defective in preventing rotenone-induced mitochondrial dysfunction, ROS generation and activation of mitochondrial apoptotic pathway.Mutations in the Drosophila homolog of human PLA2G6 give rise to age-dependent loss of psychomotor activity and neurodegeneration.Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.
P2860
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Genetic Analysis of PLA2G6 in ...... Dystonia Parkinsonism Complex.
@ast
Genetic Analysis of PLA2G6 in ...... Dystonia Parkinsonism Complex.
@en
type
label
Genetic Analysis of PLA2G6 in ...... Dystonia Parkinsonism Complex.
@ast
Genetic Analysis of PLA2G6 in ...... Dystonia Parkinsonism Complex.
@en
prefLabel
Genetic Analysis of PLA2G6 in ...... Dystonia Parkinsonism Complex.
@ast
Genetic Analysis of PLA2G6 in ...... Dystonia Parkinsonism Complex.
@en
P2093
P2860
P1433
P1476
Genetic Analysis of PLA2G6 in ...... Dystonia Parkinsonism Complex.
@en
P2093
Anita Mahadevan
Arun B Taly
Arun Kumar
Gayathri Narayanappa
Madhu Nagappa
Mohammad Iqbal Rather
Mohd Hussain Shah
Nivedita Singh
Parayil Sankaran Bindu
Rose Dawn Bharath
P2860
P304
P356
10.1371/JOURNAL.PONE.0155605
P407
P577
2016-05-19T00:00:00Z