Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG

Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG

Congenital Disorders of Glycosylation (CDG) are multisystemic metabolic disorders showing highly heterogeneous clinical presentation, molecular etiology, and laboratory results. Here, we present different transferrin isoform patterns (obtained by isoelectric focusing) from three female patients harb...

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Bibliographic Details
Main Authors: Karolina Mitusińska, Artur Góra, Anna Bogdańska, Agnieszka Rożdżyńska-Świątkowska, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Biomolecules
Subjects:
ALG13-CDG
c.320A>G variant (p.Asn107Ser)
congenital disorder of glycosylation
transferrin isoelectric focusing
human Alg13 modeling
Online Access:https://www.mdpi.com/2218-273X/12/3/398

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https://www.mdpi.com/2218-273X/12/3/398

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