Congenital disorders of glycosylation: Still “hot” in 2020-Reference-Cited by-同舟云学术

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Congenital disorders of glycosylation: Still “hot” in 2020

Published:2021-01 Issue:1 Volume:1865 Page:129751
ISSN:0304-4165
Container-title:Biochimica et Biophysica Acta (BBA) - General Subjects
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - General Subjects

Author:

Ondruskova Nina,Cechova Anna,Hansikova Hana,Honzik Tomas,Jaeken Jaak

Funder

Ministry of Health

Ministry of Education, Youth and Sports of Czech Republic

Charles University

Publisher

Elsevier BV

Subject

Molecular Biology,Biochemistry,Biophysics

Reference215 articles.

1. Expanding the molecular and clinical phenotypes of FUT8-CDG;Ng;J. Inherit. Metab. Dis.,2020

2. Pathogenic variants in Fucokinase cause a congenital disorder of glycosylation;Ng;Am. J. Hum. Genet.,2018

3. Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype;Blommaert;Proc. Natl. Acad. Sci. U. S. A.,2019

4. Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease;Ravell;J. Clin. Invest.,2020

5. Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genes;Matsuda-Lennikov;J. Biol. Chem.,2019

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1. Evolutionary rate covariation is pervasive between glycosylation pathways and points to potential disease modifiers;PLOS Genetics;2024-09-11

2. Treatment of congenital disorders of glycosylation: An overview;Molecular Genetics and Metabolism;2024-09

3. Industrializing yeast as a drug repurposing platform for inherited metabolic diseases;2024-08-26

4. Glycosylation: mechanisms, biological functions and clinical implications;Signal Transduction and Targeted Therapy;2024-08-05

5. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort;Molecular Genetics and Metabolism;2024-08

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