Novel insight into FCSK‐congenital disorder of glycosylation through a CRISPR‐generated cell model

Background FCSK‐congenital disorder of glycosylation (FCSK‐CDG) is a recently discovered rare autosomal recessive genetic disorder with defective fucosylation due to mutations in the fucokinase encoding gene, FCSK. Despite the essential role of fucokinase in the fucose salvage pathway and severe mul...

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Vydáno v:	Molecular genetics & genomic medicine Ročník 12; číslo 5; s. e2445 - n/a
Hlavní autoři:	Fazelzadeh Haghighi, Maryam, Jafari Khamirani, Hossein, Fallahi, Jafar, Monfared, Ali Arabi, Ashrafi Dehkordi, Korosh, Tabei, Seyed Mohammad Bagher
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States John Wiley & Sons, Inc 01.05.2024 John Wiley and Sons Inc Wiley
Témata:	Age Cell culture Cell lines Cell surface Congenital anomalies Congenital diseases congenital disorder of glycosylation Congenital Disorders of Glycosylation - genetics Congenital Disorders of Glycosylation - metabolism Congenital Disorders of Glycosylation - pathology Convulsions & seizures CRISPR CRISPR-Cas Systems CRISPR/Cas9 Design Disease Enzymes Epilepsy FCSK Flow cytometry Fucokinase Fucose - metabolism Gene expression Genetic disorders Glycoproteins Glycosylation Hereditary diseases Humans Intellectual disabilities Molecular modelling Notch3 protein Original Patients Phosphotransferases (Alcohol Group Acceptor) Polysaccharides Receptors, Notch - genetics Receptors, Notch - metabolism congenital disorder of glycosylation CRISPR/Cas9 FCSK fucokinase
ISSN:	2324-9269, 2324-9269
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