期刊
MOLECULAR NEUROBIOLOGY
卷 44, 期 1, 页码 53-64出版社
SPRINGER
DOI: 10.1007/s12035-011-8183-3
关键词
Dysbindin; DTNBP1; Hermansky-Pudlak; BLOC-1; AP-3; Schizophrenia
资金
- National Institutes of Health [NS42599, GM077569]
- Neuronal Imaging Core of the Emory Neuroscience NINDS Core Facilities Grant [P30NS055077]
There is growing interest in the biology of dysbindin and its genetic locus (DTNBP1) due to genetic variants associated with an increased risk of schizophrenia. Reduced levels of dysbindin mRNA and protein in the hippocampal formation of schizophrenia patients further support involvement of this locus in disease risk. Here, we discuss phylogenetically conserved dysbindin molecular interactions that define its contribution to the assembly of the biogenesis of lysosome-related organelles complex-1 (BLOC-1). We explore fundamental cellular processes where dysbindin and the dysbindin-containing BLOC-1 complex are implicated. We propose that cellular, tissue, and system neurological phenotypes from dysbindin deficiencies in model genetic organisms, and likely individuals affected with schizophrenia, emerge from abnormalities in few core cellular mechanisms controlled by BLOC-1-dysbindin-containing complex rather than from defects in dysbindin itself.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据