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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Christian Gatz, Denisa Hathazi, Ute Münchberg, Stephan Buchkremer, Thomas Labisch, Ben Munro, Rita Horvath, Ana Töpf, Joachim Weis, Andreas Roos
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019-06-01
Colecção:Frontiers in Neurology
Assuntos:
SIL1-interactome
Marinesco-Sjögren syndrome biomarkers
SIL1 missense mutation
POC1A
FAM134B
centrosome
Acesso em linha:https://www.frontiersin.org/article/10.3389/fneur.2019.00562/full
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados