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A novel fission yeast platform to model N -glycosylation and the bases of congenital disorders of glycosylation Type I
(Company of Biologists, 2022-03)
Congenital disorders of glycosylation type I (CDG-I) are inherited human diseases caused by deficiencies in lipid-linked oligosaccharide (LLO) synthesis or the glycan transfer to proteins during N-glycosylation. We constructed ...
COG1-congenital disorders of glycosylation: Milder presentation and review
(Wiley Blackwell Publishing, Inc, 2021-09)
Congenital disorders of glycosylation (CDG) are a heterogeneous group of genetic defects in glycoprotein and glycolipid glycan synthesis and attachment. A CDG subgroup are defects in the conserved oligomeric Golgi complex ...
Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia
(Elsevier Science, 2017-07)
Dear EditorPhosphomannomutase-2 deficiency-congenital disorder of glycosylation (PMM2-CDG), congenital disorder of glycosylation type-Ia or Jaeken syndrome (MIM #601785) is an autosomal recessive inherited condition of ...
Expanding The Molecular And Clinical Phenotype Of Ssr4-cdg
(WILEY-BLACKWELLHOBOKEN, 2015)
MAN1B1 Deficiency: An Unexpected CDG-II
(Public Library Science, 2013-12-12)
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. In the present study, exome sequencing was used to identify MAN1B1 as the culprit gene ...
Abrogation of glucosidase I–mediated glycoprotein deglucosylation results in a sick phenotype in fission yeasts: Model for the human MOGS-CDG disorder
(American Society for Biochemistry and Molecular Biology, 2018-12)
Glucosidase I (GI) removes the outermost glucose from protein-linked Glc3Man9GlcNAc2 (G3M9) in the endoplasmic reticulum (ER). Individuals with congenital disorders of glycosylation MOGS-CDG bear mutations in the GI-encoding ...
Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis
(Springer, 2021-04)
Human ALG2 encodes an α 1,3mannosyltransferase that catalyzes the first steps in the synthesis of N-glycans in the endoplasmic reticulum. Variants in ALG2cause a congenital disorder of glycosylation (CDG) known as ALG2-CDG. ...
Ten years of screening for congenital disorders of glycosylation in Argentina: Case studies and pitfalls
(International Pediatric Research Foundation, 2018-12)
Background: Congenital Disorders of Glycosylation (CDG) are genetic diseases caused by hypoglycosylation of glycoproteins and glycolipids. Most CDG are multisystem disorders with mild to severe involvement. Methods: We ...
Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives
(Academia Brasileira de Neurologia - ABNEURO, 2009)
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, ...