The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells

The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells

Biallelic nonsense mutations of SYNE1 underlie a variable array of cerebellar and non-cerebellar pathologies of unknown molecular etiology. SYNE1 encodes multiple isoforms of Nesprin1 that associate with the nuclear envelope, with large cerebellar synapses and with ciliary rootlets of photoreceptors...

Full description

Bibliographic Details
Main Authors: C. Potter, D. Razafsky, D. Wozniak, M. Casey, S. Penrose, X. Ge, M.R. Mahjoub, D. Hodzic
Format: Article
Language:English
Published: Elsevier 2018-07-01
Series:Neurobiology of Disease
Subjects:
SYNE1
Nesprin1
Ciliary rootlets
Cerebellar ataxia
ARCA1
SCAR8
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996118301141

Internet

http://www.sciencedirect.com/science/article/pii/S0969996118301141

Similar Items