Results 21 to 30 of about 15,514 (222)

Review: Dystroglycan in the Nervous System [PDF]

, 2007
Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core   +2 more sources

Unsuccessful intravenous D-mannose treatment in PMM2-CDG

Orphanet Journal of Rare Diseases, 2019
Background PMM2-CDG (Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia; CDG-Ia) is the most common glycosylation defect, often presenting as a severe multisystem disorder that can be fatal within the first years of life.
Sarah C. Grünert, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, Anke Schumann, Luciana Hannibal, Ute Spiekerkoetter   +8 more
doaj   +1 more source

ATP6AP1‐CDG: Follow‐up and female phenotype

JIMD Reports, 2020
In 2016, 11 male patients were reported with immunodeficiency and hepatic, gastric and (in some) neurological disease due to X‐linked ATP6AP1 deficiency (ATP6AP1‐CDG).
Patryk Lipiński, Dariusz Rokicki, Anna Bogdańska, Justyna Lesiak, Dirk J. Lefeber, Anna Tylki‐Szymańska   +5 more
doaj   +1 more source

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
core   +1 more source

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

Orphanet Journal of Rare Diseases, 2021
PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) with only symptomatic therapy. Some CDG have been successfully treated with D-galactose. We performed an open-label pilot trial with D-galactose in 9 PMM2-CDG patients.
Peter Witters, Hans Andersson, Jaak Jaeken, Laura Tseng, Clara D. M. van Karnebeek, Dirk J. Lefeber, David Cassiman, Eva Morava   +7 more
doaj   +1 more source

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

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, Bravo, M, Briones, P, Dopazo, J, Egea, G, Foulquier, F, Fuster-Jorge, P, Garcia-Garcia, F, García-Pelegrí, E, Girós, M, Gonzalez-Bravo, MN, Llambrich, M, Matalonga, L, Matthijs, G, Mills, P, Quintana, E, Ribes, A, Serra-Peinado, C, Tort, F, Ugarteburu, O, Vidal, S   +20 more
core   +2 more sources

ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

Molecular Genetics & Genomic Medicine, 2020
Background Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N‐glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple
María Eugenia de laMorena‐Barrio, María Sabater, Belén de laMorena‐Barrio, Renee L. Ruhaak, Antonia Miñano, José Padilla, Mara Toderici, Vanessa Roldán, Juan R. Gimeno, Vicente Vicente, Javier Corral   +10 more
doaj   +1 more source

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

BMC Medical Genetics, 2018
Background Congenital disorders of glycosylation are rare conditions caused by genetic defects in glycan synthesis, processing or transport. Most congenital disorders of glycosylation involve defects in the formation or transfer of the lipid-linked ...
Kristen Westenfield, Kyriakie Sarafoglou, Laura C. Speltz, Elizabeth I. Pierpont, Joan Steyermark, David Nascene, Matthew Bower, Mary Ella Pierpont   +7 more
doaj   +1 more source

Glyco-biomarkers: Potential determinants of cellular physiology and pathology [PDF]

, 2008
Once dismissed as just the icing on the cake, sugar molecules are emerging as vital components in life’s intricate machinery. Our understanding of their function within the context of the proteins and lipids to which they are attached has matured rapidly,
Alavi, A, Axford, JS
core   +2 more sources