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N‐glycoproteomics reveals distinct glycosylation alterations in NGLY1‐deficient patient‐derived dermal fibroblasts

Congenital disorders of glycosylation are genetic disorders that occur due to defects in protein and lipid glycosylation pathways. A deficiency of N‐glycanase 1, encoded by the NGLY1 gene, results in a congenital disorder of deglycosylation. The NGLY1 enzyme is mainly involved in cleaving N‐glycans...

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Detalles Bibliográficos
Autores principales:	Budhraja, Rohit, Saraswat, Mayank, De Graef, Diederik, Ranatunga, Wasantha, Ramarajan, Madan G., Mousa, Jehan, Kozicz, Tamas, Pandey, Akhilesh, Morava, Eva
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2022
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092224/ https://www.ncbi.nlm.nih.gov/pubmed/36102038 http://dx.doi.org/10.1002/jimd.12557

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