Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Sign Up to like & getrecommendations! Published in 2023 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2211087120
Abstract: Mutations in genes encoding molecular chaperones can lead to chaperonopathies, but none have so far been identified causing congenital disorders of glycosylation. Here we identified two maternal half-brothers with a novel chaperonopathy, causing impaired protein… read more here.
Keywords: c1galt1c1; cosmc; a20d cosmc; germline c1galt1c1 ... See more keywords
Emerging Roles of the Unique Molecular Chaperone Cosmc in the Regulation of Health and Disease
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DOI: 10.3390/biom12121732
Abstract: The core-1 β1-3galactosyltransferase-specific chaperone 1 (Cosmc) is a unique molecular chaperone of core-1 β1-3galactosyltransferase(C1GALT1), which typically functions inside the endoplasmic reticulum (ER). Cosmc helps C1GALT1 to fold correctly and maintain activity. It also participates in… read more here.
Keywords: chaperone cosmc; chaperone; cosmc; regulation ... See more keywords
TGF-β1 mimics the effect of IL-4 on the glycosylation of IgA1 by downregulating core 1 β1, 3-galactosyltransferase and Cosmc.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular medicine reports"
DOI: 10.3892/mmr.2016.6084
Abstract: The aberrant glycosylation of IgA1 is pivotal in the pathogenesis of IgA nephropathy (IgAN). The aim of the present study was to investigate the effect of transforming growth factor‑β1 (TGF‑β1) on the glycosylation of IgA1… read more here.
Keywords: cosmc; glycosylation iga1; effect; tgf ... See more keywords