PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13
about
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymesLack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1AMutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)A new class of phosphotransferases phosphorylated on an aspartate residue in an amino-terminal DXDX(T/V) motifComparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cellsCarbohydrate-deficient glycoprotein syndromes.Glycosylation defects and virulence phenotypes of Leishmania mexicana phosphomannomutase and dolicholphosphate-mannose synthase gene deletion mutants.Update and perspectives on congenital disorders of glycosylation.Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study.The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse development.Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation.Glycobiology of the Leishmania parasite and emerging targets for antileishmanial drug discovery.Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphataseFunctional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.PMM1;2 isomerise Man6P to Man1PMolecular cloning and functional analysis of the phosphomannomutase (PMM) gene from Dendrobium officinale and evidence for the involvement of an abiotic stress response during germination.
P2860
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P2860
PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13
description
1997 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1997
@ast
im Februar 1997 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1997/02/15)
@sk
vědecký článek publikovaný v roce 1997
@cs
wetenschappelijk artikel (gepubliceerd op 1997/02/15)
@nl
наукова стаття, опублікована в лютому 1997
@uk
научни чланак (објављен 1997/02/15)
@sr
name
PMM (PMM1), the human homologu ...... localized on chromosome 22q13
@ast
PMM (PMM1), the human homologu ...... localized on chromosome 22q13
@en
PMM (PMM1), the human homologu ...... localized on chromosome 22q13
@nl
type
label
PMM (PMM1), the human homologu ...... localized on chromosome 22q13
@ast
PMM (PMM1), the human homologu ...... localized on chromosome 22q13
@en
PMM (PMM1), the human homologu ...... localized on chromosome 22q13
@nl
prefLabel
PMM (PMM1), the human homologu ...... localized on chromosome 22q13
@ast
PMM (PMM1), the human homologu ...... localized on chromosome 22q13
@en
PMM (PMM1), the human homologu ...... localized on chromosome 22q13
@nl
P2093
P356
P1433
P1476
PMM (PMM1), the human homologu ...... localized on chromosome 22q13
@en
P2093
E. Schollen
E. Van Schaftingen
G. Matthijs
J. J. Cassiman
M. L. Budarf
P356
10.1006/GENO.1996.4536
P407
P577
1997-02-15T00:00:00Z