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Article

Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome.

PloS one - 1 Jan 2016

Kawahara Genri, Hayashi Yukiko K

Abstract excerpt

SIL1 is a nucleotide exchange factor for the endoplasmic reticulum chaperone, BiP. Mutations in the SIL1 gene cause Marinesco-Sjögren syndrome (MSS), an autosomal recessive disease characterized by cerebellar ataxia, mental retardation, congenital cataracts, and myopathy. To create novel zebrafish models of MSS for therapeutic drug screening, we analyzed phenotypes in sil1 knock down fish by two different...

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Source

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Identifiers

PMID: 27792754
DOI: 10.1371/journal.pone.0165563
PMCID: PMC5085058

Genes

SIL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome.PMID 27792754Read ↗

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