SIL1, a causative cochaperone gene of Marinesco-Sjögren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex

Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessively inherited disorder with mental retardation (MR). Recently, mutations in the SIL1 gene, encoding a co-chaperone which regulates the chaperone HSPA5, were identified as a major cause of MSS. We here examined the pathophysiological signif...

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Autors principals: Inaguma, Yutaka, Hamada, Nanako, Tabata, Hidenori, Iwamoto, Ikuko, Mizuno, Makoto, Nishimura, Yoshiaki V, Ito, Hidenori, Morishita, Rika, Suzuki, Motomasa, Ohno, Kinji, Kumagai, Toshiyuki, Nagata, Koh-ichi
Format: Artigo
Idioma:Inglês
Publicat: Blackwell Publishing Ltd 2014
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3958314/
https://ncbi.nlm.nih.gov/pubmed/24473200
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/emmm.201303069
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