Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase
about
Galactose toxicity in animalsHuman UDP-galactose 4-epimerase. Accommodation of UDP-N-acetylglucosamine within the active siteDeterminants of function and substrate specificity in human UDP-galactose 4'-epimeraseThe molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patientsUDP-glucose 4, 6-dehydratase activity plays an important role in maintaining cell wall integrity and virulence of Candida albicansUDP-galactose 4'-epimerase activities toward UDP-Gal and UDP-GalNAc play different roles in the development of Drosophila melanogaster.Purple sweet potato colour--a potential therapy for galactosemia?Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.Epimerase-deficiency galactosemia is not a binary condition.Genetic analysis of transcription-associated mutation in Saccharomyces cerevisiae.Developmental defects in a Caenorhabditis elegans model for type III galactosemia.Mediators of galactose sensitivity in UDP-galactose 4'-epimerase-impaired mammalian cells.In vivo and in vitro function of human UDP-galactose 4'-epimerase variants.Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemiaA Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) : A Complex Case of Variant GALERelationship between UDP-galactose 4'-epimerase activity and galactose sensitivity in yeast.Towards a better understanding of the substrate specificity of the UDP-N-acetylglucosamine C4 epimerase WbpP.Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells.Experimental and computational evidence on conformational fluctuations as a source of catalytic defects in genetic diseases
P2860
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P2860
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase
description
1997 nî lūn-bûn
@nan
1997 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի սեպտեմբերին 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
Characterization of two mutati ...... uman UDP-galactose-4-epimerase
@ast
Characterization of two mutati ...... uman UDP-galactose-4-epimerase
@en
type
label
Characterization of two mutati ...... uman UDP-galactose-4-epimerase
@ast
Characterization of two mutati ...... uman UDP-galactose-4-epimerase
@en
prefLabel
Characterization of two mutati ...... uman UDP-galactose-4-epimerase
@ast
Characterization of two mutati ...... uman UDP-galactose-4-epimerase
@en
P2093
P2860
P356
P1476
Characterization of two mutati ...... uman UDP-galactose-4-epimerase
@en
P2093
A M DeSandro
B B Quimby
J L Fridovich-Keil
S Almashanu
P2860
P304
P356
10.1086/515517
P407
P577
1997-09-01T00:00:00Z