American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart +6 more
wiley +1 more source
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation [PDF]
, 2017 The conserved oligomeric Golgi (COG) complex is a tethering factor composed of eight subunits that is involved in the retrograde transport of intra-Golgi components. Deficient biosynthesis of COG subunits leads to alterations of protein trafficking along
Baumgartner, Matthias +7 more
core
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Palliative care should be an integral part of follow‐up for patients with life‐limiting/life‐threatening conditions, irrespective of age and diagnosis. Many patients with inherited metabolic disorders (IMD) have palliative care needs due to multi‐systemic conditions without curative treatment options.
Anja Lee +100 more
wiley +1 more source
PLoS ONE, 2010 Congenital disorder of glycosylation type IIc (CDG IIc) is characterized by mental retardation, slowed growth and severe immunodeficiency, attributed to the lack of fucosylated glycoproteins.
Yuanquan Song +8 more
doaj +1 more source
Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of β1,4-galactosyltransferase 1 and α2,6-sialyltransferase 1 [PDF]
, 2017 Initially described by Jaeken et al. in 1980, congenital disorders of glycosylation (CDG) is a rapidly expanding group of human multisystemic disorders.
Duvet, Sandrine +6 more
core
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs) [PDF]
, 2015 Congenital disorders of glycosylation (CDG) are a constantly growing group of genetic defects of glycoprotein and glycolipid glycan synthesis. CDGs are usually multisystem diseases, and in the majority of patients, there is an important neurological involvement comprising psychomotor disability, hypotonia, ataxia, seizures, stroke-like episodes, and ...
FIUMARA, Agata +4 more
openaire +3 more sources
The role of Alg13 N-acetylglucosaminyl transferase in the expression of pathogenic features of Candida albicans. [PDF]
, 2017 Background: The pathogenic potential of Candida albicans depends on adhesion to the host cells mediated by highly glycosylated adhesins, hyphae formation and growth of biofilm. These factors require effective N-glycosylation of proteins.
Janik, Anna +5 more
core +1 more source
Degree of Cajal-Retzius cell mislocalisation correlates with the severity of structural brain defects in mouse models of dystroglycanopathy [PDF]
, 2016 The secondary dystroglycanopathies are characterized by the hypoglycosylation of alpha dystroglycan, and are associated with mutations in at least 18 genes that act on the glycosylation of this cell surface receptor rather than the Dag1 gene itself.
Booler, H +3 more
core +1 more source
Molecular Genetics and Metabolism ReportsAutosomal dominant congenital disorder of glycosylation (CDG) type Iw (OMIM# 619714) is caused by a heterozygous mutation in the STT3A gene. Most CDGs have an autosomal recessive (AR) mode of inheritance, but several cases with an autosomal dominant (AD)
Kimberly M. Ezell +13 more
doaj +1 more source
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica [PDF]
, 2018 Gerodermia osteodysplastica (GO) is characterized by skin laxity and early-onset osteoporosis. GORAB, the responsible disease gene, encodes a small Golgi protein of poorly characterized function.
Abo Khayal, Layal +22 more
core +4 more sources