Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG

Congenital disorders of glycosylation (CDG) and mitochondrial disorders are multisystem disorders with overlapping symptomatology. Pathogenic variants in the PMM2 gene lead to abnormal N-linked glycosylation. This disruption in glycosylation can induce endoplasmic reticulum stress, contributing to t...

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Detalles Bibliográficos
Autores principales: Ligezka, Anna N., Budhraja, Rohit, Nishiyama, Yurika, Fiesel, Fabienne C., Preston, Graeme, Edmondson, Andrew, Ranatunga, Wasantha, Van Hove, Johan L. K., Watzlawik, Jens O., Springer, Wolfdieter, Pandey, Akhilesh, Morava, Eva, Kozicz, Tamas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454768/
https://www.ncbi.nlm.nih.gov/pubmed/37628636
http://dx.doi.org/10.3390/genes14081585

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454768/
https://www.ncbi.nlm.nih.gov/pubmed/37628636
http://dx.doi.org/10.3390/genes14081585

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