Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG

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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Bibliographic Details
Main Authors: Anna N. Ligezka, Rohit Budhraja, Yurika Nishiyama, Fabienne C. Fiesel, Graeme Preston, Andrew Edmondson, Wasantha Ranatunga, Johan L. K. Van Hove, Jens O. Watzlawik, Wolfdieter Springer, Akhilesh Pandey, Eva Morava, Tamas Kozicz
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Genes
Subjects:
LC3-II autophagy marker
congenital disorders of glycosylation
phosphomannomutase 2 deficiency
secondary suboptimal mitochondrial function
mitophagy
glycoproteomics
Online Access:https://www.mdpi.com/2073-4425/14/8/1585

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https://www.mdpi.com/2073-4425/14/8/1585

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