Ontology highlight
ABSTRACT:
SUBMITTER: Heng MY
PROVIDER: S-EPMC3668844 | biostudies-other | 2013 Jun
REPOSITORIES: biostudies-other
Heng Mary Y MY Lin Shu-Ting ST Verret Laure L Huang Yong Y Kamiya Sherry S Padiath Quasar S QS Tong Ying Y Palop Jorge J JJ Huang Eric J EJ Ptáček Louis J LJ Fu Ying-Hui YH
The Journal of clinical investigation 20130515 6
Adult-onset autosomal-dominant leukodystrophy (ADLD) is a progressive and fatal neurological disorder characterized by early autonomic dysfunction, cognitive impairment, pyramidal tract and cerebellar dysfunction, and white matter loss in the central nervous system. ADLD is caused by duplication of the LMNB1 gene, which results in increased lamin B1 transcripts and protein expression. How duplication of LMNB1 leads to myelin defects is unknown. To address this question, we developed a mouse mode ...[more]