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Items: 1 to 20 of 903

1.

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.

Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP.

Hum Mutat. 2005 Mar;25(3):323-4. Review.

PMID:
15712224
2.

Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain.

Shany E, Saada A, Landau D, Shaag A, Hershkovitz E, Elpeleg ON.

Biochem Biophys Res Commun. 1999 Aug 19;262(1):163-6.

PMID:
10448086
3.

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.

Quintana E, Pineda M, Font A, Vilaseca MA, Tort F, Ribes A, Briones P.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S315-9. doi: 10.1007/s10545-010-9169-4.

PMID:
20652410
4.

Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.

Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y.

J Hum Genet. 1998;43(2):91-100.

PMID:
9621512
5.

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.

Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH.

Am J Med Genet A. 2006 Jul 15;140(14):1542-52.

PMID:
16770810
6.

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Miné M, Marsac C, Saudubray JM, Brivet M.

Mol Genet Metab. 2011 Dec;104(4):507-16. doi: 10.1016/j.ymgme.2011.08.008.

PMID:
21914562
7.

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A.

Hum Mutat. 2000;15(3):209-19. Review.

PMID:
10679936
8.

A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.

Brown RM, Head RA, Boubriak II, Leonard JV, Brown GK.

Hum Mutat. 2003 Dec;22(6):496-7.

PMID:
14635113
9.
10.

Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.

Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA 3rd, Ficicioglu C, Hertecant J, Patel MS, Kerr DS.

Mol Genet Metab. 2008 Apr;93(4):371-80. doi: 10.1016/j.ymgme.2007.10.135.

PMID:
18164639
11.

How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex.

Ciszak EM, Makal A, Hong YS, Vettaikkorumakankauv AK, Korotchkina LG, Patel MS.

J Biol Chem. 2006 Jan 6;281(1):648-55.

12.

Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.

Hansen LL, Brown GK, Kirby DM, Dahl HH.

J Inherit Metab Dis. 1991;14(2):140-51.

PMID:
1909401
13.

Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.

Ito M, Huq AH, Naito E, Saijo T, Takeda E, Kuroda Y.

J Inherit Metab Dis. 1992;15(6):848-56.

PMID:
1338114
14.

An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.

Takakubo F, Cartwright P, Hoogenraad N, Thorburn DR, Collins F, Lithgow T, Dahl HH.

Am J Hum Genet. 1995 Oct;57(4):772-80.

16.

Pyruvate dehydrogenase E3 binding protein (protein X) deficiency.

Brown RM, Head RA, Morris AA, Raiman JA, Walter JH, Whitehouse WP, Brown GK.

Dev Med Child Neurol. 2006 Sep;48(9):756-60.

17.

Pyruvate dehydrogenase E3 binding protein deficiency.

Brown RM, Head RA, Brown GK.

Hum Genet. 2002 Feb;110(2):187-91.

PMID:
11935326
18.

A new family of protein kinases--the mitochondrial protein kinases.

Harris RA, Popov KM, Zhao Y, Kedishvili NY, Shimomura Y, Crabb DW.

Adv Enzyme Regul. 1995;35:147-62.

PMID:
7572341
19.

Dihydrolipoamide dehydrogenase: functional similarities and divergent evolution of the pyridine nucleotide-disulfide oxidoreductases.

Carothers DJ, Pons G, Patel MS.

Arch Biochem Biophys. 1989 Feb 1;268(2):409-25. Review.

PMID:
2643922
20.

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.

Chun K, MacKay N, Petrova-Benedict R, Robinson BH.

Hum Mol Genet. 1993 Apr;2(4):449-54.

PMID:
8504306
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