Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models

Summary: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a rare inborn error of metabolism caused by deficiency of the PMM2 enzyme, which leads to impaired protein glycosylation. While the disorder presents with primarily neurological symptoms, there is limited knowledge abou...

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Bibliographic Details
Main Authors: Silvia Radenkovic, Rohit Budhraja, Teun Klein-Gunnewiek, Alexia Tyler King, Tarun N. Bhatia, Anna N. Ligezka, Karen Driesen, Rameen Shah, Bart Ghesquière, Akhilesh Pandey, Nael Nadif Kasri, Steven A. Sloan, Eva Morava, Tamas Kozicz
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Cell Reports
Subjects:
CP: Neuroscience
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124724002110

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http://www.sciencedirect.com/science/article/pii/S2211124724002110

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