VARIANT: 5071v1 Help
Entry
Name
Type
Loss of function
Gene
PRKN parkin RBR E3 ubiquitin protein ligase [KO:
K04556 ]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
Network
Disease
Reference
Authors
Chen H, Huang X, Yuan L, Xia H, Xu H, Yang Y, Zheng W, Deng H
Title
A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism.
Journal
Reference
Authors
Maruyama M, Ikeuchi T, Saito M, Ishikawa A, Yuasa T, Tanaka H, Hayashi S, Wakabayashi K, Takahashi H, Tsuji S
Title
Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism.
Journal
Reference
Authors
Hattori N, Matsumine H, Asakawa S, Kitada T, Yoshino H, Elibol B, Brookes AJ, Yamamura Y, Kobayashi T, Wang M, Yoritaka A, Minoshima S, Shimizu N, Mizuno Y
Title
Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene.
Journal
Reference
Authors
Sriram SR, Li X, Ko HS, Chung KK, Wong E, Lim KL, Dawson VL, Dawson TM
Title
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.
Journal