-
1
-
-
33745830470
-
A new level of architectural complexity in the human pyruvate dehydrogenase complex
-
Smolle M., Prior A.E., Brown A.E., Cooper A., Byron O., and Lindsay J.G. A new level of architectural complexity in the human pyruvate dehydrogenase complex. J. Biol. Chem. 281 (2006) 19772-19780
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 19772-19780
-
-
Smolle, M.1
Prior, A.E.2
Brown, A.E.3
Cooper, A.4
Byron, O.5
Lindsay, J.G.6
-
2
-
-
0001922497
-
Lactic academia: disorders of pyruvate carboxylase and pyruvate dehydrogenase
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
-
Robinson B.H. Lactic academia: disorders of pyruvate carboxylase and pyruvate dehydrogenase. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease. eighth ed. (2001), McGraw-Hill, New York 2275-2296
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease. eighth ed.
, pp. 2275-2296
-
-
Robinson, B.H.1
-
3
-
-
40849133137
-
-
P.W. Stacpoole, L.R. Gilbert, Pyruvate dehydrogenase complex deficiency, in: R.H. Glew, M.D. Rosenthal (Eds.), Clinical Studies in Medical Biochemistry, third ed., Oxford University Press, Oxford, pp. 77-88.
-
P.W. Stacpoole, L.R. Gilbert, Pyruvate dehydrogenase complex deficiency, in: R.H. Glew, M.D. Rosenthal (Eds.), Clinical Studies in Medical Biochemistry, third ed., Oxford University Press, Oxford, pp. 77-88.
-
-
-
-
4
-
-
34147115162
-
Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases
-
G.A
-
Debray F.G., Lambert M., Chevalier I., Robitaille Y., Decarie J.C., Shoubridge E.A., Robinson B.H., and Mitchell G.A. Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. Pediatrics 119 (2007) 722-733 G.A
-
(2007)
Pediatrics
, vol.119
, pp. 722-733
-
-
Debray, F.G.1
Lambert, M.2
Chevalier, I.3
Robitaille, Y.4
Decarie, J.C.5
Shoubridge, E.A.6
Robinson, B.H.7
Mitchell, G.A.8
-
5
-
-
0034051654
-
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 G.K., Brown R.M., Ito M., Naito E., Kuroda Y., Kerr D.S., Wexler I.D., Patel M.S., Robinson B.H., and Seyda A. Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Hum. Mutat. 15 (2000) 209-219
-
(2000)
Hum. Mutat.
, vol.15
, pp. 209-219
-
-
Lissens, W.1
De Meirleir, L.2
Seneca, S.3
Liebaers, I.4
Brown, G.K.5
Brown, R.M.6
Ito, M.7
Naito, E.8
Kuroda, Y.9
Kerr, D.S.10
Wexler, I.D.11
Patel, M.S.12
Robinson, B.H.13
Seyda, A.14
-
6
-
-
7244236587
-
Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit
-
Cameron J.M., Levandovskiy V., Mackay N., Tein I., and Robinson B.H. Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit. Am. J. Med. Genet. A 131 (2004) 59-66
-
(2004)
Am. J. Med. Genet. A
, vol.131
, pp. 59-66
-
-
Cameron, J.M.1
Levandovskiy, V.2
Mackay, N.3
Tein, I.4
Robinson, B.H.5
-
7
-
-
0031456509
-
Outcome of pyruvate dehydrogenase deficiency treatment with ketogenic diets: studies in patients with identical mutations
-
Wexler I.D., Hemalatha S.G., McConnell J., Buist N.R., Dahl H.H., Berry S.A., Cederbaum S.D., Patel M.S., and Kerr D.S. Outcome of pyruvate dehydrogenase deficiency treatment with ketogenic diets: studies in patients with identical mutations. Neurology 49 (1997) 1655-1661
-
(1997)
Neurology
, vol.49
, pp. 1655-1661
-
-
Wexler, I.D.1
Hemalatha, S.G.2
McConnell, J.3
Buist, N.R.4
Dahl, H.H.5
Berry, S.A.6
Cederbaum, S.D.7
Patel, M.S.8
Kerr, D.S.9
-
8
-
-
33745055953
-
Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency
-
Berendzen K., Theriaque D.W., Shuster J., and Stacpoole P.W. Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency. Mitochondrian 6 (2006) 126-135
-
(2006)
Mitochondrian
, vol.6
, pp. 126-135
-
-
Berendzen, K.1
Theriaque, D.W.2
Shuster, J.3
Stacpoole, P.W.4
-
9
-
-
33646830260
-
Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children
-
Stacpoole P.W., Kerr D.S., Barnes C., Bunch S.T., Carney P.R., Fennell E.M., Felitsyn N.M., Gilmore R.L., Greer M., Henderson G.N., Hutson A.D., Neiberger R.E., O'Brien R.G., Perkins L.A., Quisling R.G., Shroads A.L., Shuster J.J., Silverstein J.H., Theriaque D.W., and Valenstein E. Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children. Pediatrics 115 (2006) 1519-1531
-
(2006)
Pediatrics
, vol.115
, pp. 1519-1531
-
-
Stacpoole, P.W.1
Kerr, D.S.2
Barnes, C.3
Bunch, S.T.4
Carney, P.R.5
Fennell, E.M.6
Felitsyn, N.M.7
Gilmore, R.L.8
Greer, M.9
Henderson, G.N.10
Hutson, A.D.11
Neiberger, R.E.12
O'Brien, R.G.13
Perkins, L.A.14
Quisling, R.G.15
Shroads, A.L.16
Shuster, J.J.17
Silverstein, J.H.18
Theriaque, D.W.19
Valenstein, E.20
more..
-
10
-
-
0642346337
-
The pyruvate dehydrogenase complex as a target for gene therapy
-
Stacpoole P.W., Owen R., and Flotte T.R. The pyruvate dehydrogenase complex as a target for gene therapy. Curr. Gene Ther. 3 (2003) 239-245
-
(2003)
Curr. Gene Ther.
, vol.3
, pp. 239-245
-
-
Stacpoole, P.W.1
Owen, R.2
Flotte, T.R.3
-
11
-
-
0034633616
-
Recombinant adeno-associated virus vector-based gene transfer for defects in oxidative metabolism
-
Owen IV R., Lewin A.P., Peel A., Wang J., Guy J., Hauswirth W.W., Stacpoole P.W., and Flotte T.R. Recombinant adeno-associated virus vector-based gene transfer for defects in oxidative metabolism. Hum. Gene Ther. 11 (2000) 2067-2078
-
(2000)
Hum. Gene Ther.
, vol.11
, pp. 2067-2078
-
-
Owen IV, R.1
Lewin, A.P.2
Peel, A.3
Wang, J.4
Guy, J.5
Hauswirth, W.W.6
Stacpoole, P.W.7
Flotte, T.R.8
-
12
-
-
0036765063
-
Gene therapy for pyruvate dehydrogenase E1alpha deficiency using recombinant adeno-associated virus 2 (rAAV2) vectors
-
Owen IV R., Mandel R.J., Ammini C.V., Conlon T.J., Kerr D.S., Stacpoole P.W., and Flotte T.R. Gene therapy for pyruvate dehydrogenase E1alpha deficiency using recombinant adeno-associated virus 2 (rAAV2) vectors. Mol. Ther. 6 (2002) 394-399
-
(2002)
Mol. Ther.
, vol.6
, pp. 394-399
-
-
Owen IV, R.1
Mandel, R.J.2
Ammini, C.V.3
Conlon, T.J.4
Kerr, D.S.5
Stacpoole, P.W.6
Flotte, T.R.7
-
13
-
-
34248660538
-
Down-regulation of expression of rat pyruvate dehydrogenase E1alpha gene by self-complementary adeno-associated virus-mediated small interfering RNA delivery
-
Han Z., Gorbatyuk M., Thomas Jr. J., Lewin A.S., Srivastava A., and Stacpoole P.W. Down-regulation of expression of rat pyruvate dehydrogenase E1alpha gene by self-complementary adeno-associated virus-mediated small interfering RNA delivery. Mitochondrion 7 (2007) 253-259
-
(2007)
Mitochondrion
, vol.7
, pp. 253-259
-
-
Han, Z.1
Gorbatyuk, M.2
Thomas Jr., J.3
Lewin, A.S.4
Srivastava, A.5
Stacpoole, P.W.6
-
14
-
-
0020027483
-
Prolonged hypolactatemia and increased total pyruvate dehydrogenase activity by dichloroacetate
-
Evans O.B., and Stacpoole P.W. Prolonged hypolactatemia and increased total pyruvate dehydrogenase activity by dichloroacetate. Biochem. Pharmacol. 31 (1982) 1295-1300
-
(1982)
Biochem. Pharmacol.
, vol.31
, pp. 1295-1300
-
-
Evans, O.B.1
Stacpoole, P.W.2
-
15
-
-
0031797718
-
Stabilization of the pyruvate dehydrogenase E1α subunit by dichloroacetate
-
Morten K.J., Caky M., and Matthews P.M. Stabilization of the pyruvate dehydrogenase E1α subunit by dichloroacetate. Neurology 51 (1998) 1331-1335
-
(1998)
Neurology
, vol.51
, pp. 1331-1335
-
-
Morten, K.J.1
Caky, M.2
Matthews, P.M.3
-
17
-
-
0018263913
-
Metabolic effects of dichloroacetate in patients with diabetes mellitus and hyperlipoproteinemia
-
Stacpoole P.W., Moore G.W., and Kornhauser D.M. Metabolic effects of dichloroacetate in patients with diabetes mellitus and hyperlipoproteinemia. N. Engl. J. Med. 298 (1978) 526-530
-
(1978)
N. Engl. J. Med.
, vol.298
, pp. 526-530
-
-
Stacpoole, P.W.1
Moore, G.W.2
Kornhauser, D.M.3
-
18
-
-
0034898218
-
Detection of early gene expression changes by differential display in the livers of mice exposed to dichloroacetic acid
-
Thai S.F., Allen J.W., DeAngelo A.B., George M.H., and Fuscoe J.C. Detection of early gene expression changes by differential display in the livers of mice exposed to dichloroacetic acid. Carcinogenesis 22 (2001) 1317-1322
-
(2001)
Carcinogenesis
, vol.22
, pp. 1317-1322
-
-
Thai, S.F.1
Allen, J.W.2
DeAngelo, A.B.3
George, M.H.4
Fuscoe, J.C.5
-
19
-
-
84983171187
-
-
C.V. Ammini, P.W. Stacpoole, Biotransformation, toxicology and pharmacogenomics of dichloroacetate, in: Natural Production of Organohalogen Compounds, G.W. Gribble, (Ed.), vol. 3/P in the series The Handbook of Environmental Chemistry, Springer-Verlag, Berlin, New York, 2003, pp. 215-234.
-
C.V. Ammini, P.W. Stacpoole, Biotransformation, toxicology and pharmacogenomics of dichloroacetate, in: Natural Production of Organohalogen Compounds, G.W. Gribble, (Ed.), vol. 3/P in the series The Handbook of Environmental Chemistry, Springer-Verlag, Berlin, New York, 2003, pp. 215-234.
-
-
-
|