Congenital disorders of glycosylation cdg

Results 111 to 120 of about 3,636 (221)

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben +8 more
core +1 more source

Evolutionary rate covariation is pervasive between glycosylation pathways and points to potential disease modifiers.

PLoS Genetics
Mutations in glycosylation pathways, such as N-linked glycosylation, O-linked glycosylation, and GPI anchor synthesis, lead to Congenital Disorders of Glycosylation (CDG).
Holly J Thorpe +4 more
doaj +1 more source

Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders

BMC Medical Genetics, 2019
Background PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid glycans. The mutations of PMM2-CDG
Zhen Zhang +4 more
doaj +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, Brown, S C, Hopkinson, M, Williams, J +3 more
core +1 more source

LCMS-based Validation of Glycosylation Variants in Transferrin – A Diagnostic Approach for Congenital Disorders of Glycosylation [PDF]

Congenital disorders of glycosylation (CDG) are rare genetic diseases caused by defects in the glycosylation pathways. Early and accurate diagnosis of congenital disorders of glycosylation (CDG) is crucial for timely initiating appropriate therapies ...
Hima Bindu Allareddy, Dr. Madhurarekha Ch, Kalpana D,Deekshitha Ch,Prof. Manjula Bhanoori*
core +2 more sources

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach. [PDF]

J Clin Med, 2020
Francisco R +9 more
europepmc +1 more source

Human plasma N-glycome stability [PDF]

, 2010
N-glikani su šećerne komponente glikoproteina čije su biološke funkcije za organizam vrlo važne te ponekad i esencijalne. Kod raznih bolesti (tumori, urođeni poremećaji glikozilacije, upalne bolesti) i stanja (alkoholizam), strukture glikana mogu biti ...
Mavrinac, Marina
core +1 more source

Congenital Disorder of Glycosylation (CDG) - Ih [PDF]

, 2022
openaire +1 more source

ALG9 mannosyltransferase is involved in two different steps of lipid-linked oligosaccharide biosynthesis [PDF]

, 2017
N-linked protein glycosylation follows a conserved pathway in eukaryotic cells. The assembly of the lipid-linked core oligosaccharide Glc3Man9GlcNAc2, the substrate for the oligosaccharyltransferase (OST), is catalyzed by different glycosyltransferases ...
Aebi, Markus, Frank, Christian G.
core

PIGN c.776T>C (p.Phe259Ser) variant present in trans with a pathogenic variant for PIGN-congenital disorder of glycosylation: Bella-Noah syndrome

Heliyon
Glycosylation is the most common protein and lipid post-translational modification in humans. Congenital disorders of glycosylation (CDG) are characterized by both genetic and clinical heterogeneity, presenting multisystemic manifestations, and in most ...
Lyvia Neves Rebello Alves +5 more
doaj +1 more source

congenital disorders of glycosylation
glycosylation
humans

3. good health
cdg
female

infant
transferrin
mutation