Add to ORKGLoss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 and leads to glycogen storage disease Ib. Here we describe a second disease caused by a single dominant mutation in the same gene. The mutation abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal. Intracellular mislocalization of the transporter leads to a congenital disorder of glycosylation instead of glycogen storage disease.Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 and leads to glycogen storage disease Ib. Here we describe a second disease caused by a single dominant mutation in the same gene. The mutation abolishes the ER retention sign...
Processing of the glycan structures on glycoproteins by different glycosylation enzymes depends on, ...
Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused...
Mutations in genes critical for proper intra-Golgi transport can cause human syndromes due to defect...
Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 ...
Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in has been...
International audienceSLC37A4 encodes an endoplasmic reticulum (ER)-localized multitransmembrane pro...
Congenital disorders of glycosylation (CDG) are a heterogeneous and rapidly growing group of disease...
SummaryGlycogen-storage diseases type I (GSD type I) are due to a deficiency in glucose-6-phosphatas...
Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-gala...
International audienceCongenital disorders of glycosylation (CDG) are a heterogeneous and rapidly gr...
Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-gala...
Glycogen storage disease (GSD) comprises a group of autosomal recessive disorders characterized by d...
Glycosylation is an important post-translational modification for both intracellular and secreted pr...
The conserved oligomeric Golgi (COG) complex is a hetero-octameric complex that regulates intraGolgi...
Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-gala...
Processing of the glycan structures on glycoproteins by different glycosylation enzymes depends on, ...
Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused...
Mutations in genes critical for proper intra-Golgi transport can cause human syndromes due to defect...
Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 ...
Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in has been...
International audienceSLC37A4 encodes an endoplasmic reticulum (ER)-localized multitransmembrane pro...
Congenital disorders of glycosylation (CDG) are a heterogeneous and rapidly growing group of disease...
SummaryGlycogen-storage diseases type I (GSD type I) are due to a deficiency in glucose-6-phosphatas...
Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-gala...
International audienceCongenital disorders of glycosylation (CDG) are a heterogeneous and rapidly gr...
Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-gala...
Glycogen storage disease (GSD) comprises a group of autosomal recessive disorders characterized by d...
Glycosylation is an important post-translational modification for both intracellular and secreted pr...
The conserved oligomeric Golgi (COG) complex is a hetero-octameric complex that regulates intraGolgi...
Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-gala...
Processing of the glycan structures on glycoproteins by different glycosylation enzymes depends on, ...
Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused...
Mutations in genes critical for proper intra-Golgi transport can cause human syndromes due to defect...