Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
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A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-IcMPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type IfCongenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferaseA new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesisThe X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1aA deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylationKinetic properties and tissular distribution of mammalian phosphomannomutase isozymesDeficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type IgLack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1AA novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharideDeficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type IeDolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferaseA broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesIdentification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patientsGlycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)The genetics of cerebellar malformationsGPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.Molecular analysis of phosphomannomutase (PMM) genes reveals a unique PMM duplication event in diverse Triticeae species and the main PMM isozymes in bread wheat tissues.Insights into complexity of congenital disorders of glycosylation.Screening for "prelysosomal disorders": carbohydrate-deficient glycoprotein syndromes.Carbohydrate-deficient glycoprotein syndromes.Ovarian differentiation and gonadal failure.Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutationsGlycosylation defects and virulence phenotypes of Leishmania mexicana phosphomannomutase and dolicholphosphate-mannose synthase gene deletion mutants.Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).Update and perspectives on congenital disorders of glycosylation.Ophthalmic manifestations of congenital disorder of glycosylation type 1a.Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study.The human obesity gene map: the 2000 update.Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.The human obesity gene map: the 2001 update.Mannose metabolism: more than meets the eye.Improvement of dolichol-linked oligosaccharide biosynthesis by the squalene synthase inhibitor zaragozic acid.29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotypeDeficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.Congenital disorders of glycosylation: a review.
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P2860
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
description
1997 nî lūn-bûn
@nan
1997 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutations in PMM2, a phosphoma ...... e I syndrome (Jaeken syndrome)
@ast
Mutations in PMM2, a phosphoma ...... e I syndrome (Jaeken syndrome)
@en
Mutations in PMM2, a phosphoma ...... e I syndrome (Jaeken syndrome)
@en-gb
Mutations in PMM2, a phosphoma ...... e I syndrome (Jaeken syndrome)
@nl
type
label
Mutations in PMM2, a phosphoma ...... e I syndrome (Jaeken syndrome)
@ast
Mutations in PMM2, a phosphoma ...... e I syndrome (Jaeken syndrome)
@en
Mutations in PMM2, a phosphoma ...... e I syndrome (Jaeken syndrome)
@en-gb
Mutations in PMM2, a phosphoma ...... e I syndrome (Jaeken syndrome)
@nl
prefLabel
Mutations in PMM2, a phosphoma ...... e I syndrome (Jaeken syndrome)
@ast
Mutations in PMM2, a phosphoma ...... e I syndrome (Jaeken syndrome)
@en
Mutations in PMM2, a phosphoma ...... e I syndrome (Jaeken syndrome)
@en-gb
Mutations in PMM2, a phosphoma ...... e I syndrome (Jaeken syndrome)
@nl
P2093
P2860
P3181
P356
P1433
P1476
Mutations in PMM2, a phosphoma ...... e I syndrome (Jaeken syndrome)
@en
P2093
E Schollen
E Van Schaftingen
G Matthijs
J J Cassiman
M Veiga-Da-Cunha
P2860
P2888
P3181
P356
10.1038/NG0597-88
P407
P577
1997-05-01T00:00:00Z
P6179
1052839416