Results 181 to 190 of about 3,013 (227)

Immunological aspects of congenital disorders of glycosylation (CDG): a review

Journal of Inherited Metabolic Disease, 2016
AbstractCongenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases comprising more than 85 known distinct disorders. They show a great phenotypic variability ranging from multi‐organ/system to mono‐organ/system involvement with very mild to extremely severe expression. Immunological dysfunction has a significant impact
Monticelli, Maria, Ferro, Tiago, Jaeken, Jaak, Dos Reis Ferreira, Vanessa, Videira, Paula A   +4 more
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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

Human Genetics, 2000
Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndrome, represent a family of genetic diseases with variable clinical presentations. Common to all types of CDG characterized to date is a defective Asn-linked glycosylation caused by enzymatic defects of N-glycan synthesis.
Imbach, T., Grunewald, S., Schenk, B., Burda, P., Schollen, E., Wevers, R.A., Jaeken, J., Klerk, J.B.C. de, Berger, E.G., Matthijs, G., Aebi, M., Hennet, T.   +11 more
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Congenital Disorders of Glycosylation: CDG-I, CDG-II, and Beyond

Current Molecular Medicine, 2007
The Congenital Disorders of Glycosylation (CDG) are a collection of over 20 inherited diseases that impair protein N-glycosylation. The clinical appearance of CDG patients is quite diverse making it difficult for physicians to recognize them. A simple blood test of transferrin glycosylation status signals a glycosylation abnormality, but not the ...
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Retinal characteristics of the congenital disorder of glycosylation PMM2‐CDG

Journal of Inherited Metabolic Disease, 2013
AbstractThe congenital disorder of glycosylation, PMM2‐CDG, is associated with progressive photoreceptor degeneration, which causes a pigmentary retinopathy. We identified a sibling pair, mildly affected with PMM2‐CDG, who showed preserved photoreceptor function, but profound deficits of the ‘on‐pathway’ in the retina. This localises the site of early,
Dorothy A, Thompson, Ruth J, Lyons, Isabelle, Russell-Eggitt, Alki, Liasis, Herbert, Jägle, Stephanie, Grünewald   +5 more
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Mass spectrometry for congenital disorders of glycosylation, CDG

Journal of Chromatography B, 2006
Congenital disorders of glycosylation (CDG) constitute a group of diseases affecting N-linked glycosylation pathways. The classical type of CDG, now called CDG-I, results from deficiencies in the early glycosylation pathway for biosynthesis of lipid-linked oligosaccharide and its transfer to proteins in endoplasmic reticulum, while the CDG-II diseases ...
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Congenital disorder of glycosylation Ib (CDG‐Ib) without gastrointestinal symptoms

Journal of Inherited Metabolic Disease, 2003
AbstractSummary: We report a 7‐year‐old girl with hyperinsulinaemic hypoglycaemia and hepatomegaly due to congenital disorder of glycosylation (CDG) Ib without gastrointestinal symptoms. Oral mannose therapy produced clinical and biochemical normalization after 2 years of treatment.
D, Penel-Capelle, D, Dobbelaere, J, Jaeken, A, Klein, M, Cartigny, J, Weill   +5 more
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Congenital disorder of glycosylation (CDG) type Ie. A new patient

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: CDG Ie is caused by a deficiency of dolichol‐phosphate‐mannose synthase 1 (DPM1), an enzyme involved in N‐glycan assembly in the endoplasmic reticulum. Three proteins are known to be part of the synthase complex: DPM1, DPM2 and DPM3. Only mutations in DPM1, the catalytic subunit, have been described in three families.
M T, García-Silva, G, Matthijs, E, Schollen, J C, Cabrera, J, Sanchez del Pozo, M, Martí Herreros, R, Simón, M, Maties, E, Martín Hernández, T, Hennet, P, Briones   +10 more
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Congenital disorders of glycosylation (CDG): Update and new developments

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: After a brief overview on CDG, this workshop concentrated on the experience with (mostly) known CDG in a European country (the Czech Republic) and on the Australasian experience, on recent developments regarding congenital muscular dystrophies due to O‐mannosylglycan assembly defects, and on new presentations of CDG.
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Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG)

2013
Glycosylation is the addition of sugars (glycans) to proteins and lipids. Defective synthesis, assembly, or processing of glycans results in a group of disorders known as congenital disorders of glycosylation (CDG). Next-generation sequencing (NGS) technology is used in many molecular diagnostic laboratories and consists of comprehensive panels of ...
Melanie Jones, Madhuri Hegde
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Congenital Disorders of Glycosylation (CDG) of N-Glycoprotein

2020
Among the PTMs, the N-Glycosylation is the representative sugar–amino acid linkages of glycoproteins. Glycans attached to protein by a GlcNAcβ1-N-Asn linkage are called N-glycans. N-glycosylation has been named by the process of adding an N-glycan to a protein, where more than 50% of all proteins in humans have been suggested to be N-glycosylated.
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