Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).

Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).

Item
http://www.wikidata.org/entity/Q33778392
Activity-dependent heteromerization of the hyperpolarization-activated, cyclic-nucleotide gated (HCN) channels: role of N-linked glycosylationIdentification of glycoconjugates in the urine of a patient with congenital disorder of glycosylation by high-resolution mass spectrometry.Investigating diversity in human plasma proteinsGenomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.N-linked glycosylation of Kv1.2 voltage-gated potassium channel facilitates cell surface expression and enhances the stability of internalized channels.Biological roles of glycans.Characterization of N-glycosylation consensus sequences in the Kv3.1 channel.Glycosylation affects rat Kv1.1 potassium channel gating by a combined surface potential and cooperative subunit interaction mechanism.Glycosylation affects the protein stability and cell surface expression of Kv1.4 but Not Kv1.1 potassium channels. A pore region determinant dictates the effect of glycosylation on trafficking.A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia.DFT investigation on the reaction mechanism catalyzed by α-phosphomannomutase1 in protonated/deprotonated states.Holistic approaches to glycobiology
P2860

Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).

Item
http://www.wikidata.org/entity/Q33778392
description
1999 nî lūn-bûn
@nan
1999 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).
@ast
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).
@en
type
label
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).
@ast
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).
@en
prefLabel
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).
@ast
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).
@en
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).
@en
P2093
P304
P31
P356
10.1016/S0925-4439(99)00073-3
P407
P433
P478
P577
P698