Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.
about
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.Sweet and sour: an update on classic galactosemia.Gastrointestinal Health in Classic GalactosemiaA Drosophila melanogaster model of classic galactosemiaN- and O-linked glycosylation of total plasma glycoproteins in galactosemia.Purple sweet potato colour--a potential therapy for galactosemia?Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead.Mediators of galactose sensitivity in UDP-galactose 4'-epimerase-impaired mammalian cells.Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4'-epimerase (GALE)Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemiaMisfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.Modifiers of ovarian function in girls and women with classic galactosemia.Metabolite changes signal genetic regulatory mechanisms for robust cell behavior.Structural and molecular biology of type I galactosemia: disease-associated mutations.Drosophila melanogaster Models of Galactosemia.Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.Relationship between UDP-galactose 4'-epimerase activity and galactose sensitivity in yeast.Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.Functional and structural impact of the most prevalent missense mutations in classic galactosemia.Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia.Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.
P2860
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P2860
Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Relationship between genotype, ...... phosphate uridylyltransferase.
@ast
Relationship between genotype, ...... phosphate uridylyltransferase.
@en
type
label
Relationship between genotype, ...... phosphate uridylyltransferase.
@ast
Relationship between genotype, ...... phosphate uridylyltransferase.
@en
prefLabel
Relationship between genotype, ...... phosphate uridylyltransferase.
@ast
Relationship between genotype, ...... phosphate uridylyltransferase.
@en
P2093
P2860
P356
P1476
Relationship between genotype, ...... phosphate uridylyltransferase.
@en
P2093
J L Fridovich-Keil
P2860
P304
10634-10640
P356
10.1074/JBC.M009583200
P407
P577
2001-01-04T00:00:00Z