Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency
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Glycogen metabolism in humansInduced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 DeficiencyThe Effect of Weight Loss on the Muscle Proteome in the Damara, Dorper and Australian Merino Ovine BreedsMolecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.Data on the phosphorylation state of the catalytic serine of enzymes in the α-D-phosphohexomutase superfamily.Personalized biochemistry and biophysics.Identification of potential genes for human ischemic cardiomyopathy based on RNA-Seq data.Sequence-structure relationships, expression profiles, and disease-associated mutations in the paralogs of phosphoglucomutase 1Asp263 missense variants perturb the active site of human phosphoglucomutase 1.Biology, Mechanism, and Structure of Enzymes in the α-d-Phosphohexomutase Superfamily.Oral D-galactose supplementation in PGM1-CDG.Mechanistic Insights on Human Phosphoglucomutase Revealed by Transition Path Sampling and Molecular Dynamics Calculations.Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.
P2860
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P2860
Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency
description
2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique Journal of Biological Chemistry
@fr
artículu científicu espublizáu en 2014
@ast
im November 2014 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2014/11/14)
@sk
vědecký článek publikovaný v roce 2014
@cs
wetenschappelijk artikel (gepubliceerd op 2014/11/14)
@nl
наукова стаття, опублікована в листопаді 2014
@uk
name
Compromised catalysis and pote ...... hosphoglucomutase 1 deficiency
@ast
Compromised catalysis and pote ...... hosphoglucomutase 1 deficiency
@en
Compromised catalysis and pote ...... hosphoglucomutase 1 deficiency
@nl
type
label
Compromised catalysis and pote ...... hosphoglucomutase 1 deficiency
@ast
Compromised catalysis and pote ...... hosphoglucomutase 1 deficiency
@en
Compromised catalysis and pote ...... hosphoglucomutase 1 deficiency
@nl
prefLabel
Compromised catalysis and pote ...... hosphoglucomutase 1 deficiency
@ast
Compromised catalysis and pote ...... hosphoglucomutase 1 deficiency
@en
Compromised catalysis and pote ...... hosphoglucomutase 1 deficiency
@nl
P2093
P2860
P921
P3181
P356
P1476
Compromised catalysis and pote ...... hosphoglucomutase 1 deficiency
@en
P2093
Bailee N Kain
Lesa J Beamer
Yingying Lee
P2860
P304
32010-32019
P3181
P356
10.1074/JBC.M114.597914
P407
P577
2014-10-06T00:00:00Z