Results 11 to 20 of about 3,750 (209)

Congenital disorders of glycosylation (CDG): Quo vadis?

European Journal of Medical Genetics, 2018
The survey summarizes in its first part the current status of knowledge on the Congenital Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and therapeutic strategies, and pathophysiology. It documents the clinical and basic research activities, and efforts to involve patients and their families.
Peanne, R., de Lonlay, P., Foulquier, F., Kornak, U., Lefeber, D.J., Lefeber, D.J., Lefeber, D.J., Lefeber, D.J., Morava, E., Perez, B., Seta, N., Thiel, C, van Schaftingen, E., Matthijs, G., Jaeken, J.   +14 more
openaire   +10 more sources

Glycosphingolipids in congenital disorders of glycosylation (CDG)

Molecular Genetics and Metabolism
Congenital disorders of glycosylation (CDG) are a large family of rare disorders affecting the different glycosylation pathways. Defective glycosylation can affect any organ, with varying symptoms among the different CDG. Even between individuals with the same CDG there is quite variable severity.
Pedrayes, Andrea Janez, Rymen, Daisy, Ghesquiere, Bart, Witters, Peter   +3 more
openaire   +5 more sources

Are viral vector-mediated therapies compatible with aberrant glycosylation? [PDF]

Molecular Therapy: Methods & Clinical Development
The ability of adeno-associated viruses (AAVs) to transduce host cells relies on interactions with glycan moieties on the cellular surface.
I.J.J. Muffels, R. Budhraja, S. Radenkovic, R. Shah, A. Pandey, E. Morava, T. Kozicz   +6 more
doaj   +2 more sources

Congenital Disorders of Glycosylation from a Neurological Perspective

Brain Sciences, 2021
Most plasma proteins, cell membrane proteins and other proteins are glycoproteins with sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the post-translational transformation of most human proteins.
Justyna Paprocka, Aleksandra Jezela-Stanek, Anna Tylki-Szymańska, Stephanie Grunewald   +3 more
doaj   +3 more sources

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia. [PDF]

Mol Genet Genomic Med
Two affected fetuses in a COG5‐CDG family exhibited fetal hydrops and skeletal malformations, which were found to segregate with the paternal frameshift variant c.1972del and the maternal splice‐site variant c.2168_2168+4delinsCATAAAA in the COG5 gene.
Yang Q, He W, Zhang Q, Yi S, Zhou X, Wang L, Yi S, Qin Z, Luo J.   +8 more
europepmc   +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, Pascoal C, Marques-da-Silva D, Brasil S, Pimentel-Santos FM, Altassan R, Jaeken J, Grosso AR, Dos Reis Ferreira V, Videira PA.   +9 more
europepmc   +2 more sources

Lipo-Glc-1,6-P₂: A Bioprecursor Prodrug for Phosphomannomutase-2 Congenital Disorder of Glycosylation. [PDF]

IUBMB Life
ABSTRACT Phosphomannomutase‐2 (PMM2) deficiency leads to the prominent Congenital Disorder of Glycosylation (CDG), a rare disease currently lacking effective treatment options. The complete absence of PMM2 activity is incompatible with life, and all patients carry at least one missense destabilising variant that allows residual enzymatic function. This
Sodano F, Monticelli M, Hay Mele B, Rolando B, Lazzarato L, De Simone A, Andrisano V, Paris D, Rimoli MG, Cubellis MV, Andreotti G.   +10 more
europepmc   +2 more sources

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review. [PDF]

Acta Paediatr
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Cagol R, Sbeity Barakat M, Willems M, Akbaraly T, Christine BA, Diaz I, Theron A.   +6 more
europepmc   +2 more sources

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals

Orphanet Journal of Rare Diseases, 2022
Background Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limiting consequences.
C. Pascoal, I. Ferreira, C. Teixeira, E. Almeida, A. Slade, S. Brasil, R. Francisco, A. N. Ligezka, E. Morava, H. Plotkin, J. Jaeken, P. A. Videira, L. Barros, V. dos Reis Ferreira   +13 more
doaj   +1 more source

MAN1B1-CDG: Three new individuals and associated biochemical profiles

Molecular Genetics and Metabolism Reports, 2021
Congenital disorders of glycosylation (CDG) constitute an ever-growing group of genetic diseases affecting the glycosylation of proteins. CDG individuals usually present with severe multisystem disorders.
Soraya Sakhi, Sophie Cholet, Samer Wehbi, Bertrand Isidor, Benjamin Cogne, Sandrine Vuillaumier-Barrot, Thierry Dupré, Trost Detleft, Emmanuelle Schmitt, Bruno Leheup, Céline Bonnet, François Feillet, Christine Muti, François Fenaille, Arnaud Bruneel   +14 more
doaj   +1 more source