Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

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Evidence for splice transcript variants of TMEM165, a gene involved in CDG

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Publikováno v: In BBA - General Subjects April 2017 1861(4):737-748

Lysosomal di-N-acetylchitobiase-deficient mouse tissues accumulate Man2GlcNAc2 and Man3GlcNAc2

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Publikováno v: In BBA - Molecular Basis of Disease July 2012 1822(7):1137-1146

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

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Fetal bovine serum impacts the observed N‐glycosylation defects in TMEM165 KO HEK cells

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Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 2019, ⟨10.1002/jimd.12161⟩
Journal of Inherited Metabolic Disease, Springer Verlag, 2019, ⟨10.1002/jimd.12161⟩
Journal of Inherited Metabolic Disease, Springer Verlag, 2019, 214 (12), pp.201817815. ⟨10.1002/jimd.12161⟩

TMEM165 is involved in a rare genetic human disease named TMEM165‐CDG (congenital disorders of glycosylation). It is Golgi localized, highly conserved through evolution and belongs to the uncharacterized protein family 0016 (UPF0016). The use of is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fc6c15a6e3ead5ae272f2f6a2e0ad76
https://hal.science/hal-02399421