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L J Elsas

Explore the profile of L J Elsas including associated specialties, affiliations and a list of published articles. Areas
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Articles 97
Citations 883
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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...
3.
Elsas L
Emory Law J . 2003 Mar; 49(3):801-22. PMID: 12645563
No abstract available.
4.
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:...
9.
Elsas L
Prenat Diagn . 2001 Apr; 21(4):302-3. PMID: 11288121
No abstract available.
10.
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...