345 related articles for article (PubMed ID: 9538513)
1. Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.
Maceratesi P; Daude N; Dallapiccola B; Novelli G; Allen R; Okano Y; Reichardt J
Mol Genet Metab; 1998 Jan; 63(1):26-30. PubMed ID: 9538513
[TBL] [Abstract][Full Text] [Related]
2. Molecular basis of disorders of human galactose metabolism: past, present, and future.
Novelli G; Reichardt JK
Mol Genet Metab; 2000; 71(1-2):62-5. PubMed ID: 11001796
[TBL] [Abstract][Full Text] [Related]
3. Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells.
Bang YL; Nguyen TT; Trinh TT; Kim YJ; Song J; Song YH
FEBS J; 2009 Apr; 276(7):1952-61. PubMed ID: 19250319
[TBL] [Abstract][Full Text] [Related]
4. Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase.
Daude N; Gallaher TK; Zeschnigk M; Starzinski-Powitz A; Petry KG; Haworth IS; Reichardt JK
Biochem Mol Med; 1995 Oct; 56(1):1-7. PubMed ID: 8593531
[TBL] [Abstract][Full Text] [Related]
5. The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients.
Park HD; Park KU; Kim JQ; Shin CH; Yang SW; Lee DH; Song YH; Song J
Genet Med; 2005; 7(9):646-9. PubMed ID: 16301867
[TBL] [Abstract][Full Text] [Related]
6. Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia.
Timson DJ; Lindert S
Gene; 2013 Sep; 526(2):318-24. PubMed ID: 23732289
[TBL] [Abstract][Full Text] [Related]
7. Epimerase-deficiency galactosemia is not a binary condition.
Openo KK; Schulz JM; Vargas CA; Orton CS; Epstein MP; Schnur RE; Scaglia F; Berry GT; Gottesman GS; Ficicioglu C; Slonim AE; Schroer RJ; Yu C; Rangel VE; Keenan J; Lamance K; Fridovich-Keil JL
Am J Hum Genet; 2006 Jan; 78(1):89-102. PubMed ID: 16385452
[TBL] [Abstract][Full Text] [Related]
8. The cloning and sequencing of the UDP-galactose 4-epimerase gene (galE) from Avibacterium paragallinarum.
Roodt Y; Bragg R; Albertyn J
DNA Seq; 2007 Aug; 18(4):265-8. PubMed ID: 17541831
[TBL] [Abstract][Full Text] [Related]
9. Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase.
Timson DJ
FEBS J; 2005 Dec; 272(23):6170-7. PubMed ID: 16302980
[TBL] [Abstract][Full Text] [Related]
10. A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia.
Henderson JM; Huguenin SM; Cowan TM; Fridovich-Keil JL
Clin Genet; 2001 Nov; 60(5):350-5. PubMed ID: 11903335
[TBL] [Abstract][Full Text] [Related]
11. Diagnosis of inherited disorders of galactose metabolism.
Cuthbert C; Klapper H; Elsas L
Curr Protoc Hum Genet; 2008 Jan; Chapter 17():Unit 17.5. PubMed ID: 18428423
[TBL] [Abstract][Full Text] [Related]
12. In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia.
McCorvie TJ; Timson DJ
Gene; 2013 Jul; 524(2):95-104. PubMed ID: 23644136
[TBL] [Abstract][Full Text] [Related]
13. Rare cases of galactose metabolic disorders: identification of more than two mutations per patient.
Schulpis KH; Thodi G; Chatzidaki M; Iakovou K; Molou E; Dotsikas Y; Loukas YL
J Pediatr Endocrinol Metab; 2017 Oct; 30(10):1119-1120. PubMed ID: 28902631
[No Abstract] [Full Text] [Related]
14. The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry.
Petry KG; Reichardt JK
Trends Genet; 1998 Mar; 14(3):98-102. PubMed ID: 9540406
[TBL] [Abstract][Full Text] [Related]
15. Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia.
Wasilenko J; Lucas ME; Thoden JB; Holden HM; Fridovich-Keil JL
Mol Genet Metab; 2005 Jan; 84(1):32-8. PubMed ID: 15639193
[TBL] [Abstract][Full Text] [Related]
16. [Galactosemia].
Grodzka Z; Zbieg-Sendecka E
Probl Med Wieku Rozwoj; 1979; 8():70-6. PubMed ID: 263529
[TBL] [Abstract][Full Text] [Related]
17. Identification of novel mutations in classical galactosemia.
Bosch AM; Ijlst L; Oostheim W; Mulders J; Bakker HD; Wijburg FA; Wanders RJ; Waterham HR
Hum Mutat; 2005 May; 25(5):502. PubMed ID: 15841485
[TBL] [Abstract][Full Text] [Related]
18. The molecular basis of galactosemia - Past, present and future.
Timson DJ
Gene; 2016 Sep; 589(2):133-41. PubMed ID: 26143117
[TBL] [Abstract][Full Text] [Related]
19. Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.
Kumar SU; Sankar S; Kumar DT; Younes S; Younes N; Siva R; Doss CGP; Zayed H
Cell Biochem Biophys; 2021 Jun; 79(2):201-219. PubMed ID: 33555556
[TBL] [Abstract][Full Text] [Related]
20. The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding.
Pey AL; PadÃn-Gonzalez E; Mesa-Torres N; Timson DJ
Arch Biochem Biophys; 2014 Nov; 562():103-14. PubMed ID: 25150110
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
