Review: Protein misfolding diseases – the rare case of Marinesco‐Sjögren syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Neuropathology and Applied Neurobiology"
DOI: 10.1111/nan.12588
Abstract: Secretory and cell membrane proteins are synthesized in the endoplasmic reticulum (ER), where a network of molecular chaperones and folding factors ensure correct protein folding and export to post‐ER compartments. Failure of this process leads… read more here.
Keywords: protein; protein misfolding; gren syndrome; review protein ... See more keywords
Marinesco–Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature
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DOI: 10.3390/life15121855
Abstract: Marinesco–Sjögren syndrome (MSS) is a rare autosomal recessive disorder characterized by cerebellar ataxia, congenital cataracts, developmental delay, hypotonia, and progressive myopathy. Most reported cases are linked to pathogenic variants in SIL1, a gene encoding a… read more here.
Keywords: variant; analysis; gren syndrome; silico ... See more keywords