Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome

Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome

Background and objective: Recessive mutations in the SIL1 gene cause Marinesco-Sjögren syndrome (MSS), a rare neuropediatric disorder. MSS-patients typically present with congenital cataracts, intellectual disability, cerebellar ataxia and progressive vacuolar myopathy. However, atypical clinical pr...

Full description

Bibliographic Details
Main Authors: Christian Gatz, Denisa Hathazi, Ute Münchberg, Stephan Buchkremer, Thomas Labisch, Ben Munro, Rita Horvath, Ana Töpf, Joachim Weis, Andreas Roos
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-06-01
Series:Frontiers in Neurology
Subjects:
SIL1-interactome
Marinesco-Sjögren syndrome biomarkers
SIL1 missense mutation
POC1A
FAM134B
centrosome
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2019.00562/full

Internet

https://www.frontiersin.org/article/10.3389/fneur.2019.00562/full

Similar Items