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Items: 1 to 20 of 109

1.

The molecular basis of glutamate formiminotransferase deficiency.

Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS.

Hum Mutat. 2003 Jul;22(1):67-73. Erratum in: Hum Mutat. 2003 Nov;22(5):416.

PMID:
12815595
2.

Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency.

Solans A, Estivill X, de la Luna S.

Cytogenet Cell Genet. 2000;88(1-2):43-9.

PMID:
10773664
3.
4.

Orotic aciduria, homocystinuria, formiminoglutamic aciduria and megaloblastosis associated with the formiminotransferase/cyclodeaminase deficiency.

Shin YS, Reiter S, Zelger O, Brünstler I, von Rücker A.

Adv Exp Med Biol. 1986;195 Pt A:71-6. No abstract available.

PMID:
3728187
5.

Formiminotransferase cyclodeaminase is an organ-specific autoantigen recognized by sera of patients with autoimmune hepatitis.

Lapierre P, Hajoui O, Homberg JC, Alvarez F.

Gastroenterology. 1999 Mar;116(3):643-9.

PMID:
10029623
6.

[Glutamate-formiminotransferase deficiency].

Narisawa K.

Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):204-6. Review. Japanese. No abstract available.

PMID:
9645043
7.

Glutamate formyl- and formimino-transferase activities from pig liver.

Bortoluzzi LC, MacKenzie RE.

Can J Biochem Cell Biol. 1983 May;61(5):248-53.

PMID:
6883161
8.

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

Zavadáková P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann JB, Zeman J, Vilaseca MA, Vilarinho L, Gutsche S, Wilichowski E, Horneff G, Kozich V.

Hum Mutat. 2005 Mar;25(3):239-47. Erratum in: Hum Mutat. 2005 Dec;26(6):590.

PMID:
15714522
9.
10.
11.

Distinct epitopes on formiminotransferase cyclodeaminase induce autoimmune liver cytosol antibody type 1.

Muratori L, Sztul E, Muratori P, Gao Y, Ripalti A, Ponti C, Lenzi M, Landini MP, Bianchi FB.

Hepatology. 2001 Sep;34(3):494-501.

PMID:
11526534
12.

Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II.

Purevjav E, Kimura M, Takusa Y, Ohura T, Tsuchiya M, Hara N, Fukao T, Yamaguchi S.

Eur J Clin Invest. 2002 Sep;32(9):707-12.

PMID:
12486872
13.

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

Yogalingam G, Guo XH, Muller VJ, Brooks DA, Clements PR, Kakkis ED, Hopwood JJ.

Hum Mutat. 2004 Sep;24(3):199-207.

PMID:
15300847
14.

58K, a microtubule-binding Golgi protein, is a formiminotransferase cyclodeaminase.

Bashour AM, Bloom GS.

J Biol Chem. 1998 Jul 31;273(31):19612-7.

15.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
16.

Congenital errors of folate metabolism.

Zittoun J.

Baillieres Clin Haematol. 1995 Sep;8(3):603-16. Review.

PMID:
8534963
17.

A novel type of regulation of the vimentin intermediate filament cytoskeleton by a Golgi protein.

Gao YS, Vrielink A, MacKenzie R, Sztul E.

Eur J Cell Biol. 2002 Jul;81(7):391-401.

PMID:
12160147
18.

Crystallization and preliminary X-ray analysis of the formiminotransferase domain from the bifunctional enzyme formiminotransferase-cyclodeaminase.

Kohls D, Croteau N, Mejia N, MacKenzie RE, Vrielink A.

Acta Crystallogr D Biol Crystallogr. 1999 Jun;55(Pt 6):1206-8.

PMID:
10329787
19.

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, Waterham HR, Hiltunen JK, Wanders RJ, Glumoff T.

Am J Hum Genet. 2006 Jan;78(1):112-24.

20.

Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.

Dobrowolski SF, McKinney JT, Amat di San Filippo C, Giak Sim K, Wilcken B, Longo N.

Hum Mutat. 2005 Mar;25(3):306-13.

PMID:
15714519

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