Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 156

1.

Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure.

Sakurai S, Fukao T, Haapalainen AM, Zhang G, Yamada K, Lilliu F, Yano S, Robinson P, Gibson MK, Wanders RJ, Mitchell GA, Wierenga RK, Kondo N.

Mol Genet Metab. 2007 Apr;90(4):370-8. Epub 2007 Jan 22.

PMID:
17236799
2.

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
3.

Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency.

Fukao T, Nakamura H, Song XQ, Nakamura K, Orii KE, Kohno Y, Kano M, Yamaguchi S, Hashimoto T, Orii T, Kondo N.

Hum Mutat. 1998;12(4):245-54.

PMID:
9744475
4.

Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function.

Haapalainen AM, Meriläinen G, Pirilä PL, Kondo N, Fukao T, Wierenga RK.

Biochemistry. 2007 Apr 10;46(14):4305-21. Epub 2007 Mar 20.

PMID:
17371050
5.
6.

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
7.
8.

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.

9.

Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations.

Thümmler S, Dupont D, Acquaviva C, Fukao T, de Ricaud D.

Tohoku J Exp Med. 2010 Jan;220(1):27-31.

10.
11.

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.

Zhang GX, Fukao T, Rolland MO, Zabot MT, Renom G, Touma E, Kondo M, Matsuo N, Kondo N.

Pediatr Res. 2004 Jul;56(1):60-4. Epub 2004 May 5.

PMID:
15128923
12.
13.
14.

Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families.

Fukao T, Yamaguchi S, Scriver CR, Dunbar G, Wakazono A, Kano M, Orii T, Hashimoto T.

Hum Mutat. 1993;2(3):214-20.

PMID:
8103405
15.

Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolase.

Wajner M, Sanseverino MT, Giugliani R, Sweetman L, Yamaguchi S, Fukao T, Shih VE.

Clin Genet. 1992 Apr;41(4):202-5.

PMID:
1349518
17.

A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Fukao T, Nguyen HT, Nguyen NT, Vu DC, Can NT, Pham AT, Nguyen KN, Kobayashi H, Hasegawa Y, Bui TP, Niezen-Koning KE, Wanders RJ, de Koning T, Nguyen LT, Yamaguchi S, Kondo N.

Mol Genet Metab. 2010 May;100(1):37-41. doi: 10.1016/j.ymgme.2010.01.007. Epub 2010 Jan 21.

PMID:
20156697
19.

A patient with severe neurologic symptoms and acetoacetyl-CoA thiolase deficiency.

Groot CJ, Haan GL, Hulstaert CE, Hoomes FA.

Pediatr Res. 1977 Oct;11(10 Pt 2):1112-6.

PMID:
20597
20.

Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria.

Corydon TJ, Bross P, Jensen TG, Corydon MJ, Lund TB, Jensen UB, Kim JJ, Gregersen N, Bolund L.

J Biol Chem. 1998 May 22;273(21):13065-71.

Supplemental Content

Support Center