Evaluating, filtering and clustering genetic disease cohorts based on human phenotype ontology data with cohort analyzer [PDF]
, 2021 Exhaustive and comprehensive analysis of pathological traits is essential to understanding genetic diseases, performing precise diagnosis and prescribing personalized treatments.
Córdoba-Caballero, José +9 more
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Congenital disorder of glycosilation PMM2-CDG
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2019 Congenital glycosylation disorders represent a group of genetically determined diseases which violate the synthesis and addition of glycans to glycoproteins and glycolipids, and also the synthesis of glycosylphosphatidyl inositol. The most common defects are the defects of protein N-glycosylation.
A. A. Kamalova +6 more
openaire +2 more sources
Congenital disorders of glycosylation: narration of a story through its patents [PDF]
, 2023 Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, research made great strides, but nearly all of
Andreotti G. +5 more
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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
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Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience [PDF]
, 2021 Objective: To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years.
Azevedo, L +23 more
core +2 more sources
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I [PDF]
, 2011 Congenital disorders of glycosylation (CDG) form a group of metabolic disorders caused by deficient glycosylation of proteins and/or lipids. Isoelectric focusing (IEF) of serum transferrin is the most common screening method to detect abnormalities of ...
Mailys Guillard +12 more
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Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation [PDF]
, 2022 none14sìThe insulin-like growth factor-1 (IGF-1) signaling pathway is crucial for the regulation of growth and development. The correct processing of the IGF-1Ea prohormone (proIGF-1Ea) and the IGF-1 receptor (IGF-1R) peptide precursor requires proper N ...
Annibalini, Giosuè +13 more
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Orphanet Journal of Rare Diseases, 2021 Background Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids.
Anna Bogdańska +6 more
doaj +1 more source
Çocuk Dergisi, 2023 Introduction: Congenital glycosylation defects (CDGs) manifest with multisystemic symptoms involving the immune, central nervous, endocrine, and musculoskeletal systems. A total of 137 distinct CDG types have been identified to date.
Sebile Kılavuz +9 more
doaj +1 more source
Proteostasis regulators as potential rescuers of PMM2 activity [PDF]
, 2020 Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-glycosylation disorder. To date there is no treatment. Following the identification of a number of destabilizing pathogenic variants, our group suggested PMM2-CDG to be a conformational ...
Vilas, A. +7 more
core +1 more source