L J Elsas
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Explore the profile of L J Elsas including associated specialties, affiliations and a list of published articles.
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97
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Recent Articles
1.
Serravezza J, Wheeler F, Dehaan R, Elsas L
Dev Biol
. 2010 Aug;
84(2):417-24.
PMID: 20737880
We have compared insulin binding by heart cells at 7 and 14 days of development. Species specificity, optimum pH, temperature relationships, and time to equilibrium for binding of insulin were...
2.
Tang M, Wierenga K, Elsas L, Lai K
Chem Biol Interact
. 2010 Aug;
188(3):376-85.
PMID: 20696150
Human galactokinase (GALK) is the first enzyme in the Leloir pathway, converting α-d-galactose into galactose-1-phosphate (Gal-1-P). Recently, there is increasing interest in targeting GALK as a novel therapy to ameliorate...
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Lai K, Langley S, Khwaja F, Schmitt E, Elsas L
Glycobiology
. 2003 Mar;
13(4):285-94.
PMID: 12626383
Previously we reported that stable transfection of human UDP-glucose pyrophosphorylase (hUGP2) rescued galactose-1-phosphate uridyltransferase (GALT)-deficient yeast from "galactose toxicity." Here we test in human cell lines the hypothesis that galactose...
5.
Longo N, Singh R, Elsas L
J Inherit Metab Dis
. 2002 Jan;
24(5):546-50.
PMID: 11757582
Rabson-Mendenhall syndrome is an autosomal recessive disorder of insulin signalling caused by mutations in the insulin receptor gene. Affected patients are insensitive to exogenous insulin. Insulin-like growth factor I (IGF-I),...
6.
Yager C, Gibson J, States B, Elsas L, Segal S
J Inherit Metab Dis
. 2001 Oct;
24(4):465-76.
PMID: 11596650
The ability of EB virus-transformed lymphoblasts with undetectable galactose-1-phosphate uridyltransferase (GALT) from 15 galactosaemic patients to oxidize [1-(14)C]galactose to 14CO2 was compared to that of cells from 7 normal subjects....
7.
Lai K, Elsas L
Mol Genet Metab
. 2001 Oct;
74(1-2):264-72.
PMID: 11592823
We previously identified a missense mutation at amino acid 135 of human galactose 1-phosphate uridyltransferase (hGALT) in which a leucine (TTG) was substituted for a serine (TCG), S135L. This mutation...
8.
Robertson A, Singh R, Guerrero N, Hundley M, Elsas L
Genet Med
. 2001 Jun;
2(2):142-8.
PMID: 11397328
Purpose: This study evaluates a genotype/phenotype relationship between developmental verbal dyspraxia (DVD) and the common, missense mutation of the galactose-1-phosphate uridyltransferase gene, Q188R, in patients with classic galactosemia (G/G). Methods:...
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Elsas L, Lai K, Saunders C, Langley S
Mol Genet Metab
. 2001 Apr;
72(4):297-305.
PMID: 11286503
Human galactose-1-phosphate uridyltransferase (hGALT) is an evolutionarily conserved enzyme central to D-galactose metabolism. The impairment of hGALT causes galactosemia. One missense mutation, an aspartate to asparagine substitution at amino acid...