Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100637
Abstract: Congenital Disorders of Glycosylation (CDG) are scarcely reported from Latin America. We here report on a Mexican mestizo with a multi-systemic syndrome including neurological involvement and a type I transferrin (Tf) isoelectric focusing (IEF) pattern.… read more here.
Keywords: cdg; first pmm2; exome sequencing; mexican mestizo ... See more keywords
Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability
Sign Up to like & getrecommendations! Published in 2023 at "Oxidative Medicine and Cellular Longevity"
DOI: 10.1155/2023/5964723
Abstract: 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… read more here.
Keywords: pathogenic variants; pmm2; pmm2 sensitive; environmental stress ... See more keywords