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Congenital disorders of glycosylation: narration of a story through its patents.
Publication Type: Academic Journal
Source(s): Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Aug 29; Vol. 18 (1), pp. 247. Date of Electronic Publication: 2023 Aug 29.
Abstract: 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 ...
Metalloglycobiology: The power of metals in regulating glycosylation.
Publication Type: Academic Journal
Source(s): Biochimica et biophysica acta. General subjects [Biochim Biophys Acta Gen Subj] 2023 Sep; Vol. 1867 (9), pp. 130412. Date of Electronic Publication: 2023 Jun 20.
Abstract: The remarkable structural diversity of glycans that is exposed at the cell surface and generated along the secretory pathway is tightly regulated by several factors. The recent identification of human glycosylation diseases related to metal transporter...
A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.
Publication Type: Academic Journal
Source(s): Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Aug; Vol. 11 (8), pp. e2197. Date of Electronic Publication: 2023 May 19.
Abstract: Background: The congenital disorder of glycosylation associated with ALG1 (ALG1-CDG) is a rare autosomal recessive disease. Due to the deficiency of β1,4 mannosyltransferase caused by pathogenic variants in ALG1 gene, the assembly and processing of gly...
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.
Publication Type: Academic Journal
Source(s): Molecular genetics and metabolism [Mol Genet Metab] 2023 Jul; Vol. 139 (3), pp. 107610. Date of Electronic Publication: 2023 May 16.
Abstract: PMM2-CDG is the most common defect among the congenital disorders of glycosylation. In order to investigate the effect of hypoglycosylation on important cellular pathways, we performed extensive biochemical studies on skin fibroblasts of PMM2-CDG patie...
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.
Publication Type: Academic Journal
Source(s): Molecular genetics and metabolism [Mol Genet Metab] 2023 Jun; Vol. 139 (2), pp. 107606. Date of Electronic Publication: 2023 May 09.
Abstract: Background: Given the lack of reliable data on the prevalence of bleeding abnormalities and thrombotic episodes in PMM2-CDG patients, and whether coagulation abnormalities change over time, we prospectively collected and reviewed natural history data. ...
Congenital disorders of glycosylation and infantile epilepsy.
Publication Type: Academic Journal
Source(s): Epilepsy & behavior : E&B [Epilepsy Behav] 2023 May; Vol. 142, pp. 109214. Date of Electronic Publication: 2023 Apr 21.
Abstract: Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by defects in various defects of protein or lipid glycosylation pathways. The symptoms and signs of CDG usually develop in infancy. Epilepsy is commonl...
Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement.
Publication Type: Academic Journal
Source(s): Journal of medical genetics [J Med Genet] 2023 Jul; Vol. 60 (7), pp. 627-635. Date of Electronic Publication: 2022 Nov 10.
Abstract: Background: Enzymes of the Golgi implicated in N-glycan processing are critical for brain development, and defects in many are defined as congenital disorders of glycosylation (CDG). Involvement of the Golgi mannosidase, MAN2A2 has not been identified ...
Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.
Publication Type: Academic Journal
Source(s): BMC research notes [BMC Res Notes] 2023 Apr 17; Vol. 16 (1), pp. 53. Date of Electronic Publication: 2023 Apr 17.
Abstract: Objective: The study of the impact of some inherited defects in glycosylation on the biosynthesis of some lysosomal glycoproteins. Results description: Whole-exome sequencing revealed a homozygous variant; 428G > A; p. (R143K) in SRD5A3 in one patient ...
Thrombosis risk with estrogen use for puberty induction in congenital disorders of glycosylation.
Publication Type: Academic Journal
Source(s): Molecular genetics and metabolism [Mol Genet Metab] 2023 Apr; Vol. 138 (4), pp. 107562. Date of Electronic Publication: 2023 Mar 30.
Abstract: Congenital disorders of glycosylation are a group of rare related disorders causing multisystem dysfunction, including ovarian failure in females that requires early estrogen replacement. Glycosylation defects also disrupt normal synthesis of several c...
Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.
Publication Type: Academic Journal
Source(s): Molecular genetics and metabolism [Mol Genet Metab] 2023 Apr; Vol. 138 (4), pp. 107559. Date of Electronic Publication: 2023 Mar 17.
Abstract: Phosphomannomutase-2-congenital disorder of glycosylation (PMM2-CDG) is the most common CDG and presents with highly variable features ranging from isolated neurologic involvement to severe multi-organ dysfunction. Liver abnormalities occur in in almos...