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Items: 1 to 20 of 91

1.

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

Joshi M, Eagan J, Desai NK, Newton SA, Towne MC, Marinakis NS, Esteves KM, De Ferranti S, Bennett MJ, McIntyre A, Beggs AH, Berry GT, Agrawal PB.

Eur J Hum Genet. 2014 Oct;22(10):1229-32. doi: 10.1038/ejhg.2014.8. Epub 2014 Feb 19.

2.

Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.

Basel-Vanagaite L, Zevit N, Har Zahav A, Guo L, Parathath S, Pasmanik-Chor M, McIntyre AD, Wang J, Albin-Kaplanski A, Hartman C, Marom D, Zeharia A, Badir A, Shoerman O, Simon AJ, Rechavi G, Shohat M, Hegele RA, Fisher EA, Shamir R.

Am J Hum Genet. 2012 Jan 13;90(1):49-60. doi: 10.1016/j.ajhg.2011.11.028. Epub 2012 Jan 5.

3.

Glycerol-3-phosphate dehydrogenase 1 deficiency induces compensatory amino acid metabolism during fasting in mice.

Sato T, Yoshida Y, Morita A, Mori N, Miura S.

Metabolism. 2016 Nov;65(11):1646-1656. doi: 10.1016/j.metabol.2016.08.005. Epub 2016 Aug 24.

PMID:
27733253
4.

Anaerobic and aerobic batch cultivations of Saccharomyces cerevisiae mutants impaired in glycerol synthesis.

Nissen TL, Hamann CW, Kielland-Brandt MC, Nielsen J, Villadsen J.

Yeast. 2000 Mar 30;16(5):463-74.

5.

CCAAT/enhancer binding protein-beta negatively regulates the expression of glycerol-3-phosphate dehydrogenase 1 in pig PK-15 cells.

Gao Y, Pan Y.

J Appl Genet. 2011 Nov;52(4):451-8. doi: 10.1007/s13353-011-0050-4. Epub 2011 May 17.

PMID:
21584730
6.

Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

Dionisi-Vici C, Shteyer E, Niceta M, Rizzo C, Pode-Shakked B, Chillemi G, Bruselles A, Semeraro M, Barel O, Eyal E, Kol N, Haberman Y, Lahad A, Diomedi-Camassei F, Marek-Yagel D, Rechavi G, Tartaglia M, Anikster Y.

J Inherit Metab Dis. 2016 Sep;39(5):689-95. doi: 10.1007/s10545-016-9956-7. Epub 2016 Jul 1.

PMID:
27368975
7.

Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.

Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ.

Circulation. 2007 Nov 13;116(20):2253-9. Epub 2007 Oct 29.

8.

Novel mutations associated with carnitine palmitoyltransferase II deficiency.

Taggart RT, Smail D, Apolito C, Vladutiu GD.

Hum Mutat. 1999;13(3):210-20.

PMID:
10090476
9.

Cloning and characterization of a glycerol-3-phosphate dehydrogenase (NAD+) gene from the halotolerant yeast Pichia farinosa.

Peng F, Li G, Wang X, Jiang Y, Yang Y.

Yeast. 2010 Feb;27(2):115-21. doi: 10.1002/yea.1736.

10.

The role of glycerol-3-phosphate dehydrogenase 1 in the progression of fatty liver after acute ethanol administration in mice.

Sato T, Morita A, Mori N, Miura S.

Biochem Biophys Res Commun. 2014 Feb 21;444(4):525-30. doi: 10.1016/j.bbrc.2014.01.096. Epub 2014 Jan 25.

PMID:
24472537
11.
12.

A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency.

Ikeda Y, Takagi A, Nakata Y, Sera Y, Hyoudou S, Hamamoto K, Nishi Y, Yamamoto A.

Clin Chim Acta. 2002 Feb;316(1-2):179-85.

PMID:
11750290
13.

A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene.

Vladutiu GD, Bennett MJ, Smail D, Wong LJ, Taggart RT, Lindsley HB.

Mol Genet Metab. 2000 Jun;70(2):134-41.

PMID:
10873395
14.

The importance of the glycerol 3-phosphate shuttle during aerobic growth of Saccharomyces cerevisiae.

Larsson C, Påhlman IL, Ansell R, Rigoulet M, Adler L, Gustafsson L.

Yeast. 1998 Mar 15;14(4):347-57.

15.

Silencing the glycerol-3-phosphate dehydrogenase gene in Saccharomyces cerevisiae results in more ethanol being produced and less glycerol.

He W, Ye S, Xue T, Xu S, Li W, Lu J, Cao L, Ye B, Chen Y.

Biotechnol Lett. 2014 Mar;36(3):523-9. doi: 10.1007/s10529-013-1375-3. Epub 2013 Oct 23.

PMID:
24150518
16.

Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.

Illsinger S, Lücke T, Peter M, Ruiter JP, Wanders RJ, Deschauer M, Handig I, Wuyts W, Das AM.

Am J Med Genet A. 2008 Nov 15;146A(22):2925-8. doi: 10.1002/ajmg.a.32545.

PMID:
18925671
17.
18.
19.

Minimization of glycerol synthesis in industrial ethanol yeast without influencing its fermentation performance.

Guo ZP, Zhang L, Ding ZY, Shi GY.

Metab Eng. 2011 Jan;13(1):49-59. doi: 10.1016/j.ymben.2010.11.003. Epub 2010 Nov 30.

PMID:
21126600
20.

Microaerobic glycerol formation in Saccharomyces cerevisiae.

Costenoble R, Valadi H, Gustafsson L, Niklasson C, Franzén CJ.

Yeast. 2000 Dec;16(16):1483-95.

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