Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability

Congenital disorders of glycosylation (CDG) are severe metabolic disorders caused by an imbalance in the glycosylation pathway. Phosphomannomutase2 (PMM2-CDG), the most prevalent CDG, is mainly due to the disorder of PMM2. Pathogenic variants in cysteine have been found in various diseases, and cyst...

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Detalles Bibliográficos
Autores principales: Yu, Fan, Lin, Li, Sun, Jingmiao, Pan, Jicheng, Liao, Yixin, Pan, Yunfan, Bai, Guannan, Ma, Liangjian, Mao, Jianhua, Hu, Lidan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9891822/
https://www.ncbi.nlm.nih.gov/pubmed/36743691
http://dx.doi.org/10.1155/2023/5964723

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9891822/
https://www.ncbi.nlm.nih.gov/pubmed/36743691
http://dx.doi.org/10.1155/2023/5964723

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