PARKIN as a pathogenic gene for autosomal recessive juvenile parkinsonism.
Parkinson's disease is a common neurodegenerative disease with complex clinical features. Recently, we idenfied a novel gene named Parkin to be responsible for the pathogenesis of autosomal recessive juvenile parkinsonism (AR-JP). Various mutations were found in AR-JP patients of Japanese and other ethnic origins, providing a definitive evidence for the Parkin to be a causative gene for AR-JP. The predicted structure of Parkin protein and its mutation provide important clues for studying the functional role of the Parkin protein in leading to selective degeneration of nigral neurons in the brains of AR-JP patients.
Shimizu
N
N
Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan. shimizu@dmb.med.keio.ac.jp
Asakawa
S
S
Minoshima
S
S
Kitada
T
T
Hattori
N
N
Matsumine
H
H
Yokochi
M
M
Yamamura
Y
Y
Mizuno
Y
Y
D020816:Amino Acid Motifs; D001483:Base Sequence / Q000235:genetics; D003001:Cloning, Molecular; D015870:Gene Expression; D005808:Genes, Recessive; D006801:Humans; D008025:Ligases / Q000235:genetics* / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000503:physiopathology; D044767:Ubiquitin-Protein Ligases
D044767:Ubiquitin-Protein Ligases; D008025:Ligases