Results 21 to 30 of about 3,013 (227)
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides [PDF]
, 2009 Defects in the biosynthesis of the oligosaccharide precursor for N-glycosylation lead to decreased occupancy of glycosylation sites and thereby to diseases known as congenital disorders of glycosylation (CDG).
Haeuptle, M A, Hennet, T
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A genome-wide CRISPR screen identifies DPM1 as a modifier of DPAGT1 deficiency and ER stress.
PLoS Genetics, 2022 Partial loss-of-function mutations in glycosylation pathways underlie a set of rare diseases called Congenital Disorders of Glycosylation (CDGs). In particular, DPAGT1-CDG is caused by mutations in the gene encoding the first step in N-glycosylation ...
Hans M Dalton +8 more
doaj +1 more source
JIMD Reports, 2021 Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in SLC37A4 has been described. This causes mislocalization of the glucose‐6‐phosphate transporter to the Golgi leading to a congenital disorder of glycosylation type
Matthew P. Wilson +14 more
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Macular hypoplasia in congenital disorder of glycosylation type 1a [PDF]
, 2012 Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type ...
Siriwardana, Pradeep +2 more
core +3 more sources
JIMD Reports, 2023 The phosphatidylinositol glycan anchor biosynthesis class O protein (PIGO) enzyme is an important step in the biosynthesis of glycosylphosphatidylinositol (GPI), which is essential for the membrane anchoring of several proteins.
Rodrigo Tzovenos Starosta +7 more
doaj +1 more source
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. [PDF]
, 2017 Congenital disorders of glycosylation (CDG) are a heterogeneous and rapidly growing group of diseases caused by abnormal glycosylation of proteins and/or lipids.
Beltran, S +20 more
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MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature
JIMD Reports, 2020 MPI‐CDG is a rare congenital disorder of glycosylation (CDG) which presents with hepato‐gastrointestinal symptoms and hypoglycemia. We report on hepatic evaluation of two pediatric patients who presented to us with gastrointestinal symptoms.
Tawhida Y. Abdel Ghaffar +7 more
doaj +1 more source
Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation [PDF]
, 2013 BACKGROUND: Congenital disorders of glycosylation (CDGs) are inherited diseases caused by glycosylation defects. Incorrectly glycosylated proteins induce protein misfolding and endoplasmic reticulum (ER) stress.
Huaxi Xu +5 more
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Orphanet Journal of Rare Diseases, 2021 Background The congenital disorders of glycosylation (CDG) are a heterogeneous group of rare metabolic diseases with multi-system involvement. The liver phenotype of CDG varies not only according to the specific disorder, but also from patient to patient.
Rodrigo Tzovenos Starosta +9 more
doaj +1 more source
PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India
Global Medical Genetics, 2023 Congenital disorder of glycosylation (CDG) is an autosomal recessively inherited disorder. Hypotonia, stroke-like episodes, and peripheral neuropathy are also associated with the condition that typically develops during infancy.
N. Sreedevi +4 more
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