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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Veröffentlicht in:	Genes 2023-08, Vol.14 (8), p.1585
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Antibodies Autophagy Autophagy - genetics Bioenergetics Chromatography Congenital Disorders of Glycosylation - genetics Disease Electron transport chain Endoplasmic reticulum Energy Metabolism Enzymes Fibroblasts Genetic aspects Genetic disorders Genotypes Glycosylation Humans Hypotheses Infrared imaging systems Laboratories Mass spectrometry Membranes Metabolism Metabolites Mitochondria Mitochondria - genetics Patients Proteins Respiration Scientific equipment and supplies industry Scientific imaging Software Sorbitol
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