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Items: 1 to 20 of 106

1.

Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency.

Fukao T, Yamaguchi S, Tomatsu S, Orii T, Frauendienst-Egger G, Schrod L, Osumi T, Hashimoto T.

Biochem Biophys Res Commun. 1991 Aug 30;179(1):124-9.

PMID:
1715688
3.

Further analysis of mutant thiolase protein in fibroblasts from a Japanese boy with 3-ketothiolase deficiency.

Yamaguchi S, Fukao T, Kano M, Wakazono A, Orii T, Sakura N, Hashimoto T.

Tohoku J Exp Med. 1992 Jun;167(2):143-53.

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Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure.

Fukao T, Nakamura H, Nakamura K, Perez-Cerda C, Baldellou A, Barrionuevo CR, Castello FG, Kohno Y, Ugarte M, Kondo N.

Mol Genet Metab. 2002 Mar;75(3):235-43.

PMID:
11914035
9.

Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity.

Beg OU, Meng MS, Skarlatos SI, Previato L, Brunzell JD, Brewer HB Jr, Fojo SS.

Proc Natl Acad Sci U S A. 1990 May;87(9):3474-8.

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Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.

Gregersen N, Andresen BS, Bross P, Winter V, Rüdiger N, Engst S, Christensen E, Kelly D, Strauss AW, Kølvraa S, et al.

Hum Genet. 1991 Apr;86(6):545-51.

PMID:
1902818
15.

Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency.

Nagasawa H, Yamaguchi S, Orii T, Schutgens RB, Sweetman L, Hashimoto T.

Pediatr Res. 1989 Aug;26(2):145-9.

PMID:
2570398
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Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients.

Wakazono A, Fukao T, Yamaguchi S, Hori T, Orii T, Lambert M, Mitchell GA, Lee GW, Hashimoto T.

Hum Mutat. 1995;5(1):34-42.

PMID:
7728148
18.

Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion.

Singer L, Whitehead WT, Akama H, Katz Y, Fishelson Z, Wetsel RA.

J Biol Chem. 1994 Nov 11;269(45):28494-9.

19.

Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency.

Kuwahara T, Fukao T, Kano M, Yamaguchi S, Orii T, Hashimoto T.

Hum Genet. 1992 Nov;90(3):208-10.

PMID:
1362557
20.

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