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Results: 1 to 20 of 98

1.

The silkworm mutant lemon (lemon lethal) is a potential insect model for human sepiapterin reductase deficiency.

Meng Y, Katsuma S, Daimon T, Banno Y, Uchino K, Sezutsu H, Tamura T, Mita K, Shimada T.

J Biol Chem. 2009 Apr 24;284(17):11698-705. doi: 10.1074/jbc.M900485200. Epub 2009 Feb 26.

PMID:
19246455
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Albino (al) is a tetrahydrobiopterin (BH4)-deficient mutant of the silkworm Bombyx mori.

Fujii T, Abe H, Kawamoto M, Katsuma S, Banno Y, Shimada T.

Insect Biochem Mol Biol. 2013 Jul;43(7):594-600. doi: 10.1016/j.ibmb.2013.03.009. Epub 2013 Apr 6.

PMID:
23567588
[PubMed - indexed for MEDLINE]
3.

Cloning, expression and enzymatic properties analysis of dihydrofolate reductase gene from the silkworm, Bombyx mori.

Wang W, Gao J, Wang J, Liu C, Meng Y.

Mol Biol Rep. 2012 Dec;39(12):10285-91. doi: 10.1007/s11033-012-1905-4. Epub 2012 Oct 14.

PMID:
23065260
[PubMed - indexed for MEDLINE]
4.

A brain-specific decrease of the tyrosine hydroxylase protein in sepiapterin reductase-null mice--as a mouse model for Parkinson's disease.

Takazawa C, Fujimoto K, Homma D, Sumi-Ichinose C, Nomura T, Ichinose H, Katoh S.

Biochem Biophys Res Commun. 2008 Mar 21;367(4):787-92. doi: 10.1016/j.bbrc.2008.01.028. Epub 2008 Jan 15.

PMID:
18201550
[PubMed - indexed for MEDLINE]
5.

A murine model for human sepiapterin-reductase deficiency.

Yang S, Lee YJ, Kim JM, Park S, Peris J, Laipis P, Park YS, Chung JH, Oh SP.

Am J Hum Genet. 2006 Apr;78(4):575-87. Epub 2006 Jan 31.

PMID:
16532389
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Discovery of a new tetrahydrobiopterin-synthesizing enzyme in the lemon mutant of the silkworm Bombyx mori.

Iino T, Sawada H, Tsusué M, Takikawa S.

Biochim Biophys Acta. 1996 Oct 17;1297(2):191-9.

PMID:
8917621
[PubMed - indexed for MEDLINE]
7.

Molecular defect of isovaleryl-CoA dehydrogenase in the skunk mutant of silkworm, Bombyx mori.

Urano K, Daimon T, Banno Y, Mita K, Terada T, Shimizu K, Katsuma S, Shimada T.

FEBS J. 2010 Nov;277(21):4452-63. doi: 10.1111/j.1742-4658.2010.07832.x. Epub 2010 Oct 1.

PMID:
21040472
[PubMed - indexed for MEDLINE]
8.

The properties of monoclonal antibody against sepiapterin reductase from fat body of the silkworm, Bombyx mori.

Iino T, Sawada H, Gyure WL, Tsusué M.

Biol Chem Hoppe Seyler. 1992 Dec;373(12):1239-42.

PMID:
1292509
[PubMed - indexed for MEDLINE]
9.

Abnormal red body coloration of the silkworm, Bombyx mori, is caused by a mutation in a novel kynureninase.

Meng Y, Katsuma S, Mita K, Shimada T.

Genes Cells. 2009 Feb;14(2):129-40. doi: 10.1111/j.1365-2443.2008.01257.x. Epub 2008 Jan 6.

PMID:
19170761
[PubMed - indexed for MEDLINE]
10.

Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.

Farrugia R, Scerri CA, Montalto SA, Parascandolo R, Neville BG, Felice AE.

Mol Genet Metab. 2007 Mar;90(3):277-83. Epub 2006 Dec 22.

PMID:
17188538
[PubMed - indexed for MEDLINE]
11.

Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin.

Nagatsu T, Ichinose H.

Mol Neurobiol. 1999 Feb;19(1):79-96. Review.

PMID:
10321973
[PubMed - indexed for MEDLINE]
13.

Disorders of tetrahydrobiopterin metabolism and their treatment.

Shintaku H.

Curr Drug Metab. 2002 Apr;3(2):123-31. Review.

PMID:
12003346
[PubMed - indexed for MEDLINE]
14.

Isolation, purification, and identification of an important pigment, sepiapterin, from integument of the lemon mutant of the silkworm, Bombyx mori.

Gao J, Wang J, Wang W, Liu C, Meng Y.

J Insect Sci. 2013;13:118. doi: 10.1673/031.013.11801.

PMID:
24773269
[PubMed - in process]
Free PMC Article
15.

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

Bonafé L, Thöny B, Penzien JM, Czarnecki B, Blau N.

Am J Hum Genet. 2001 Aug;69(2):269-77. Epub 2001 Jul 6.

PMID:
11443547
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.

Blau N, Bonafé L, Thöny B.

Mol Genet Metab. 2001 Sep-Oct;74(1-2):172-85. Review.

PMID:
11592814
[PubMed - indexed for MEDLINE]
17.

Localization of sepiapterin reductase in the human brain.

Ikemoto K, Suzuki T, Ichinose H, Ohye T, Nishimura A, Nishi K, Nagatsu I, Nagatsu T.

Brain Res. 2002 Nov 8;954(2):237-46.

PMID:
12414107
[PubMed - indexed for MEDLINE]
18.

Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.

Thöny B, Leimbacher W, Blau N, Harvie A, Heizmann CW.

Am J Hum Genet. 1994 May;54(5):782-92.

PMID:
8178819
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Polymorphisms of sepiapterin reductase gene alter promoter activity and may influence risk of bipolar disorder.

McHugh PC, Joyce PR, Kennedy MR.

Pharmacogenet Genomics. 2009 May;19(5):330-7.

PMID:
19415819
[PubMed - indexed for MEDLINE]
20.

Genomic organization and chromosomal localization of the human sepiapterin reductase gene.

Ohye T, Hori TA, Katoh S, Nagatsu T, Ichinose H.

Biochem Biophys Res Commun. 1998 Oct 20;251(2):597-602.

PMID:
9792819
[PubMed - indexed for MEDLINE]

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