A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

SLC37A4 encodes an endoplasmic reticulum (ER)-localized multitransmembrane protein required for transporting glucose-6-phosphate (Glc-6P) into the ER. Once transported into the ER, Glc-6P is subsequently hydrolyzed by tissue-specific phosphatases to glucose and inorganic phosphate during times of gl...

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Veröffentlicht in:	American journal of human genetics 2021-06, Vol.108 (6), p.1040-1052
Hauptverfasser:	Ng, Bobby G., Sosicka, Paulina, Fenaille, François, Harroche, Annie, Vuillaumier-Barrot, Sandrine, Porterfield, Mindy, Xia, Zhi-Jie, Wagner, Shannon, Bamshad, Michael J., Vergnes-Boiteux, Marie-Christine, Cholet, Sophie, Dalton, Stephen, Dell, Anne, Dupré, Thierry, Fiore, Mathieu, Haslam, Stuart M., Huguenin, Yohann, Kumagai, Tadahiro, Kulik, Michael, McGoogan, Katherine, Michot, Caroline, Nickerson, Deborah A., Pascreau, Tiffany, Borgel, Delphine, Raymond, Kimiyo, Warad, Deepti, Flanagan-Steet, Heather, Steet, Richard, Tiemeyer, Michael, Seta, Nathalie, Bruneel, Arnaud, Freeze, Hudson H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Antiporters - genetics Child Child, Preschool coagulopathy Congenital Disorders of Glycosylation - etiology Congenital Disorders of Glycosylation - pathology congenital disordes of glycosylation Endoplasmic Reticulum - genetics Endoplasmic Reticulum - metabolism Endoplasmic Reticulum - pathology exome sequencing Female Fibroblasts - metabolism Fibroblasts - pathology Genes, Dominant Genetics Glycosylation Golgi pH Humans Infant Infant, Newborn Life Sciences Liver Diseases - complications Male Monosaccharide Transport Proteins - genetics Mutation Pedigree
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