Results 101 to 110 of about 1,300 (164)
HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation [PDF]
Phosphomannomutase 2 deficiency (PMM2-CDG), the most frequent congenital disorder of glycosylation, is an autosomal recessive disease caused by biallelic pathogenic variants in the PMM2 gene. There is no cure for this multisystemic syndrome.
Briso-Montiano Pastrana, Alvaro +8 more
core +1 more source
Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation
G3: Genes, Genomes, Genetics, 2019 Phosphomannomutase 2 Deficiency (PMM2-CDG) is the most common monogenic congenital disorder of glycosylation (CDG) affecting at least 800 patients globally.
Jessica P. Lao +5 more
doaj +1 more source
Genetic counseling for congenital disorders of glycosylation (CDG)
Journal of Genetic Counseling, Volume 33, Issue 6, Page 1358-1364, December 2024.Abstract Congenital disorders of glycosylation (CDGs) are a genetically and clinically diverse group of disorders that arise as a result of defects within glycosylation synthetic pathways. CDGs are caused by pathogenic variants in many different genes in the glycosylation network.
Tara Weixel +2 more
wiley +1 more source
Phosphomannomutase deficiency (PMM2-CDG)
, 2015 Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation
Serrano, Mercedes +23 more
openaire +1 more source
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
Journal of Medical Genetics, 2018 Introduction Phosphomannomutase-2 deficiency (PMM2-CDG) is associated with a recognisable facial pattern. There are no early severity predictors for this disorder and no phenotype–genotype correlation. We performed a detailed dysmorphology evaluation to describe facial gestalt and its changes over time, to train ...
Antonio Martinez-Monseny +14 more
openaire +4 more sources
Journal of Investigative Medicine High Impact Case Reports, 2013 Background . Congenital disorders of glycosylation (CDG) are a group of rare disorders in which glycosylation required for proper protein-protein interactions and protein stability is disrupted, manifesting clinically with multiple system involvement and
Bradley S. Miller MD, PhD +3 more
doaj +1 more source
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report
Orphanet Journal of Rare Diseases, 2010 Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly.
Zagal Ahmad +5 more
doaj +1 more source
Dysregulated proteome and N‐glycoproteome in ALG1‐deficient fibroblasts
PROTEOMICS, Volume 24, Issue 15, August 2024.Abstract Asparagine‐linked glycosylation 1 protein is a β‐1,4‐mannosyltransferase, is encoded by the ALG1 gene, which catalyzes the first step of mannosylation in N‐glycosylation. Pathogenic variants in ALG1 cause a rare autosomal recessive disorder termed as ALG1‐CDG.
Rohit Budhraja +5 more
wiley +1 more source
Frontiers in EndocrinologyCongenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism caused by impaired protein glycosylation. Among these, PMM2-CDG, caused by defective phosphomannomutase 2 activity and affecting protein N-glycosylation,
Giulia Del Medico +13 more
doaj +1 more source
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia [PDF]
, 2023 Phosphomannomutase 2 (PMM2) deficiency causes Congenital Disorder of Glycosylation (PMM2-CDG), but does not have a recognised association with Inflammatory Bowel Disease (IBD).
Azabdaftari, A +10 more
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