-
1
-
-
0142121353
-
The contribution of mitochondria to common disorders
-
G.M. Enns The contribution of mitochondria to common disorders Mol. Genet. Metab. 80 2003 11 26
-
(2003)
Mol. Genet. Metab.
, vol.80
, pp. 11-26
-
-
Enns, G.M.1
-
3
-
-
0036171573
-
Defects of mitochondrial β-oxidation: A growing group of disorders
-
J. Vockley, and D.A.H. Whiteman Defects of mitochondrial β-oxidation: a growing group of disorders Neuromuscul. Disord. 12 2002 235 246
-
(2002)
Neuromuscul. Disord.
, vol.12
, pp. 235-246
-
-
Vockley, J.1
Whiteman, D.A.H.2
-
4
-
-
8444228909
-
A cluster of metabolic defects caused by mutation in a mitochondrial tRNA
-
F.H. Wilson, A. Hariri, A. Farhi, H. Zhao, K.F. Petersen, H.R. Toka, C. Nelson-Williams, K.M. Raja, M. Kashgarian, G.I. Shulman, S.J. Scheinman, and R.P. Lifton A cluster of metabolic defects caused by mutation in a mitochondrial tRNA Science 306 2004 1190 1194
-
(2004)
Science
, vol.306
, pp. 1190-1194
-
-
Wilson, F.H.1
Hariri, A.2
Farhi, A.3
Zhao, H.4
Petersen, K.F.5
Toka, H.R.6
Nelson-Williams, C.7
Raja, K.M.8
Kashgarian, M.9
Shulman, G.I.10
Scheinman, S.J.11
Lifton, R.P.12
-
5
-
-
0347320496
-
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: Evaluating the effects on outcome
-
C. Dezateux Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome Eur. J. Pediatr. 162 Suppl. 1 2003 S25 S28
-
(2003)
Eur. J. Pediatr.
, vol.162
, Issue.1 SUPPL.
-
-
Dezateux, C.1
-
6
-
-
0030774807
-
Functional correction of short-chain acyl-CoA dehydrogenase deficiency in transgenic mice: Implications for gene therapy of human mitochondrial enzyme deficiencies
-
C.L. Kelly, W.J. Rhead, W.K. Kutschke, A.E. Brix, D.A. Hamm, C.A. Pinkert, J.R. Lindsey, and P.A. Wood Functional correction of short-chain acyl-CoA dehydrogenase deficiency in transgenic mice: implications for gene therapy of human mitochondrial enzyme deficiencies Hum. Mol. Genet. 6 1997 1451 1455
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1451-1455
-
-
Kelly, C.L.1
Rhead, W.J.2
Kutschke, W.K.3
Brix, A.E.4
Hamm, D.A.5
Pinkert, C.A.6
Lindsey, J.R.7
Wood, P.A.8
-
7
-
-
0037389776
-
Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer
-
D.A. Holm, F. Dagnaes-Hansen, H. Simonsen, N. Gregersen, L. Bolund, T.G. Jensen, and T.J. Corydon Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer Mol. Genet. Metab. 78 2003 250 258
-
(2003)
Mol. Genet. Metab.
, vol.78
, pp. 250-258
-
-
Holm, D.A.1
Dagnaes-Hansen, F.2
Simonsen, H.3
Gregersen, N.4
Bolund, L.5
Jensen, T.G.6
Corydon, T.J.7
-
8
-
-
0027285713
-
Null allele at Bcd-1 locus in BALB/cByJ mice is due to a deletion in the short-chain acyl-CoA dehydrogenase gene and results in missplicing of mRNA
-
M.E. Hinsdale, C.L. Kelly, and P.A. Wood Null allele at Bcd-1 locus in BALB/cByJ mice is due to a deletion in the short-chain acyl-CoA dehydrogenase gene and results in missplicing of mRNA Genomics 16 1993 605 611
-
(1993)
Genomics
, vol.16
, pp. 605-611
-
-
Hinsdale, M.E.1
Kelly, C.L.2
Wood, P.A.3
-
9
-
-
0024496544
-
Short-chain acyl-coenzyme a dehydrogenase deficiency in mice
-
P.A. Wood, B.A. Amendt, W.J. Rhead, D.S. Millington, F. Inoue, and D. Armstrong Short-chain acyl-coenzyme A dehydrogenase deficiency in mice Pediatr. Res. 25 1989 38 43
-
(1989)
Pediatr. Res.
, vol.25
, pp. 38-43
-
-
Wood, P.A.1
Amendt, B.A.2
Rhead, W.J.3
Millington, D.S.4
Inoue, F.5
Armstrong, D.6
-
11
-
-
19444386226
-
Gene knockout mouse model for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
-
March 2002, Asilomar, CA
-
P.A. Wood, R.J. Tolwani, D.A. Hamm, J. Vockley, D. Matern, P. Rinaldo, T.R. Schoeb, Gene knockout mouse model for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Presented at Annual Meeting of the Society for Inherited Metabolic Disorders, March 2002, Asilomar, CA
-
Annual Meeting of the Society for Inherited Metabolic Disorders
-
-
Wood, P.A.1
Tolwani, R.J.2
Hamm, D.A.3
Vockley, J.4
Matern, D.5
Rinaldo, P.6
Schoeb, T.R.7
-
12
-
-
0030943737
-
Heterologous expression of adenovirus E3-gp19K in an E1a-deleted adenovirus vector inhibits MHC I expression in vitro, but does not prolong transgene expression in vivo
-
D.B. Schowalter, J.C. Tubb, M. Liu, C.B. Wilson, and M.A. Kay Heterologous expression of adenovirus E3-gp19K in an E1a-deleted adenovirus vector inhibits MHC I expression in vitro, but does not prolong transgene expression in vivo Gene Ther. 4 1997 351 360
-
(1997)
Gene Ther.
, vol.4
, pp. 351-360
-
-
Schowalter, D.B.1
Tubb, J.C.2
Liu, M.3
Wilson, C.B.4
Kay, M.A.5
-
13
-
-
0030847771
-
Constitutive expression of murine CTLA4Ig from a recombinant adenovirus vector results in prolonged transgene expression
-
D.B. Schowalter, L. Meuse, C.B. Wilson, P.S. Linsley, and M.A. Kay Constitutive expression of murine CTLA4Ig from a recombinant adenovirus vector results in prolonged transgene expression Gene Ther. 4 1997 853 860
-
(1997)
Gene Ther.
, vol.4
, pp. 853-860
-
-
Schowalter, D.B.1
Meuse, L.2
Wilson, C.B.3
Linsley, P.S.4
Kay, M.A.5
-
14
-
-
0034121032
-
2-Methylbutyryl-coenzyme a dehydrogenase deficiency: A new inborn error of l-isoleucine metabolism
-
K.M. Gibson, T.G. Burlingame, B. Hogema, C. Jakobs, R.B. Schutgens, D. Millington, C.R. Roe, D.S. Roe, L. Sweetman, R.D. Steiner, L. Linck, P. Pohowalla, M. Sacks, D. Kiss, P. Rinaldo, and J. Vockley 2-Methylbutyryl- coenzyme A dehydrogenase deficiency: a new inborn error of l-isoleucine metabolism Pediatr. Res. 47 2000 830 833
-
(2000)
Pediatr. Res.
, vol.47
, pp. 830-833
-
-
Gibson, K.M.1
Burlingame, T.G.2
Hogema, B.3
Jakobs, C.4
Schutgens, R.B.5
Millington, D.6
Roe, C.R.7
Roe, D.S.8
Sweetman, L.9
Steiner, R.D.10
Linck, L.11
Pohowalla, P.12
Sacks, M.13
Kiss, D.14
Rinaldo, P.15
Vockley, J.16
-
15
-
-
0036398014
-
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans
-
T.V. Nguyen, B.S. Andresen, T.J. Corydon, S. Ghisla, N. Abd-El Razik, A.W. Mohsen, S.D. Cederbaum, D.S. Roe, C.R. Roe, N.J. Lench, and J. Vockley Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans Mol. Genet. Metab. 77 2002 68 79
-
(2002)
Mol. Genet. Metab.
, vol.77
, pp. 68-79
-
-
Nguyen, T.V.1
Andresen, B.S.2
Corydon, T.J.3
Ghisla, S.4
Abd-El Razik, N.5
Mohsen, A.W.6
Cederbaum, S.D.7
Roe, D.S.8
Roe, C.R.9
Lench, N.J.10
Vockley, J.11
-
16
-
-
0033851274
-
Mammalian branched-chain acyl-CoA dehydrogenases: Molecular cloning and characterization of recombinant enzymes
-
J. Vockley, A.W. Mohsen, B. Binzak, J. Willard, and A. Fauq Mammalian branched-chain acyl-CoA dehydrogenases: molecular cloning and characterization of recombinant enzymes Methods Enzymol. 324 2000 241 258
-
(2000)
Methods Enzymol.
, vol.324
, pp. 241-258
-
-
Vockley, J.1
Mohsen, A.W.2
Binzak, B.3
Willard, J.4
Fauq, A.5
-
17
-
-
0033956203
-
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders
-
J.J. Shen, D. Matern, D.S. Millington, S. Hillman, M.D. Feezor, M.J. Bennett, M. Qumsiyeh, S.G. Kahler, Y.T. Chen, and J.L. Van Hove Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders J. Inherit. Metab. Dis. 23 2000 27 44
-
(2000)
J. Inherit. Metab. Dis.
, vol.23
, pp. 27-44
-
-
Shen, J.J.1
Matern, D.2
Millington, D.S.3
Hillman, S.4
Feezor, M.D.5
Bennett, M.J.6
Qumsiyeh, M.7
Kahler, S.G.8
Chen, Y.T.9
Van Hove, J.L.10
-
18
-
-
0027981243
-
Intramitochondrial folding and assembly of Medium-Chain Acyl-CoA dehydrogenase (MCAD)-demonstration of impaired transfer of K304E-Variant MCAD from its complex with hsp60 to the native tetramer
-
T. Saijo, W.J. Welch, and K. Tanaka Intramitochondrial folding and assembly of Medium-Chain Acyl-CoA dehydrogenase (MCAD)-demonstration of impaired transfer of K304E-Variant MCAD from its complex with hsp60 to the native tetramer J. Biol. Chem. 269 1994 4401 4408
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 4401-4408
-
-
Saijo, T.1
Welch, W.J.2
Tanaka, K.3
-
19
-
-
0027050287
-
Impaired tetramer assembly of variant medium chain acyl-CoA dehydrogenase with a glutamate or aspartate substitution for lysine-304 causing instability of the protein
-
I. Yokota, T. Saijo, J. Vockley, and K. Tanaka Impaired tetramer assembly of variant medium chain acyl-CoA dehydrogenase with a glutamate or aspartate substitution for lysine-304 causing instability of the protein J. Biol. Chem. 267 1992 26004 26010
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 26004-26010
-
-
Yokota, I.1
Saijo, T.2
Vockley, J.3
Tanaka, K.4
-
20
-
-
0347481388
-
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency
-
C.B. Pedersen, P. Bross, V.S. Winter, T.J. Corydon, L. Bolund, K. Bartlett, J. Vockley, and N. Gregersen Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency J. Biol. Chem. 278 2003 47449 47458
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 47449-47458
-
-
Pedersen, C.B.1
Bross, P.2
Winter, V.S.3
Corydon, T.J.4
Bolund, L.5
Bartlett, K.6
Vockley, J.7
Gregersen, N.8
-
21
-
-
9344226779
-
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme a dehydrogenase
-
M.J. Corydon, N. Gregersen, W. Lehnert, A. Ribes, P. Rinaldo, S. Kmoch, E. Christensen, T.J. Kristensen, B.S. Andresen, P. Bross, V. Winter, G. Martinez, S. Neve, T.G. Jensen, L. Bolund, and S. Kolvraa Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase Pediatr. Res. 39 1996 1059 1066
-
(1996)
Pediatr. Res.
, vol.39
, pp. 1059-1066
-
-
Corydon, M.J.1
Gregersen, N.2
Lehnert, W.3
Ribes, A.4
Rinaldo, P.5
Kmoch, S.6
Christensen, E.7
Kristensen, T.J.8
Andresen, B.S.9
Bross, P.10
Winter, V.11
Martinez, G.12
Neve, S.13
Jensen, T.G.14
Bolund, L.15
Kolvraa, S.16
-
22
-
-
0037125921
-
Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme
-
T.V. Nguyen, C. Riggs, D. Babovic-Vuksanovic, Y.S. Kim, J.F. Carpenter, T.P. Burghardt, N. Gregersen, and J. Vockley Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme Biochemistry (Mosc.) 41 2002 11126 11133
-
(2002)
Biochemistry (Mosc.)
, vol.41
, pp. 11126-11133
-
-
Nguyen, T.V.1
Riggs, C.2
Babovic-Vuksanovic, D.3
Kim, Y.S.4
Carpenter, J.F.5
Burghardt, T.P.6
Gregersen, N.7
Vockley, J.8
-
23
-
-
0033065425
-
Implication of interfering antibody formation and apoptosis as two different mechanisms leading to variable duration of adenovirus-mediated transgene expression in immune-competent mice
-
D.B. Schowalter, C.L. Himeda, B.L. Winther, C.B. Wilson, and M.A. Kay Implication of interfering antibody formation and apoptosis as two different mechanisms leading to variable duration of adenovirus-mediated transgene expression in immune-competent mice J. Virol. 73 1999 4755 4766
-
(1999)
J. Virol.
, vol.73
, pp. 4755-4766
-
-
Schowalter, D.B.1
Himeda, C.L.2
Winther, B.L.3
Wilson, C.B.4
Kay, M.A.5
-
24
-
-
0036592086
-
A new adenoviral helper-dependent vector results in long-term therapeutic levels of human coagulation factor IX at low doses in vivo
-
A. Ehrhardt, and M.A. Kay A new adenoviral helper-dependent vector results in long-term therapeutic levels of human coagulation factor IX at low doses in vivo Blood 99 2002 3923 3930
-
(2002)
Blood
, vol.99
, pp. 3923-3930
-
-
Ehrhardt, A.1
Kay, M.A.2
-
25
-
-
1242338802
-
Helper-dependent adenoviral vector-mediated long-term expression of human apolipoprotein A-I reduces atherosclerosis in apo E-deficient mice
-
L. Pastore, L.M. Belalcazar, K. Oka, R. Cela, B. Lee, L. Chan, and A.L. Beaudet Helper-dependent adenoviral vector-mediated long-term expression of human apolipoprotein A-I reduces atherosclerosis in apo E-deficient mice Gene 327 2004 153 160
-
(2004)
Gene
, vol.327
, pp. 153-160
-
-
Pastore, L.1
Belalcazar, L.M.2
Oka, K.3
Cela, R.4
Lee, B.5
Chan, L.6
Beaudet, A.L.7
-
26
-
-
0037015049
-
Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy
-
G.P. Gao, M.R. Alvira, L. Wang, R. Calcedo, J. Johnston, and J.M. Wilson Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy Proc. Natl. Acad. Sci. USA 99 2002 11854 11859
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, pp. 11854-11859
-
-
Gao, G.P.1
Alvira, M.R.2
Wang, L.3
Calcedo, R.4
Johnston, J.5
Wilson, J.M.6
-
27
-
-
0035135747
-
Viral vectors for gene therapy: The art of turning infectious agents into vehicles of therapeutics
-
M.A. Kay, J.C. Glorioso, and L. Naldini Viral vectors for gene therapy: the art of turning infectious agents into vehicles of therapeutics Nat. Med. 7 2001 33 40
-
(2001)
Nat. Med.
, vol.7
, pp. 33-40
-
-
Kay, M.A.1
Glorioso, J.C.2
Naldini, L.3
-
28
-
-
0032064006
-
The kinetics of rAAV integration in the liver
-
C.H. Miao, R.O. Snyder, D.B. Schowalter, G.A. Patijn, B. Donahue, B. Winther, and M.A. Kay The kinetics of rAAV integration in the liver Nat. Genet. 19 1998 13 15
-
(1998)
Nat. Genet.
, vol.19
, pp. 13-15
-
-
Miao, C.H.1
Snyder, R.O.2
Schowalter, D.B.3
Patijn, G.A.4
Donahue, B.5
Winther, B.6
Kay, M.A.7
-
29
-
-
0033587482
-
Use of a liver-specific promoter reduces immune response to the transgene in adenoviral vectors
-
L. Pastore, N. Morral, H. Zhou, R. Garcia, R.J. Parks, S. Kochanek, F.L. Graham, B. Lee, and A.L. Beaudet Use of a liver-specific promoter reduces immune response to the transgene in adenoviral vectors Hum. Gene Ther. 10 1999 1773 1781
-
(1999)
Hum. Gene Ther.
, vol.10
, pp. 1773-1781
-
-
Pastore, L.1
Morral, N.2
Zhou, H.3
Garcia, R.4
Parks, R.J.5
Kochanek, S.6
Graham, F.L.7
Lee, B.8
Beaudet, A.L.9
-
30
-
-
0034202522
-
Inclusion of the hepatic locus control region, an intron, and untranslated region increases and stabilizes hepatic factor IX gene expression in vivo but not in vitro
-
C.H. Miao, K. Ohashi, G.A. Patijn, L. Meuse, X. Ye, A.R. Thompson, and M.A. Kay Inclusion of the hepatic locus control region, an intron, and untranslated region increases and stabilizes hepatic factor IX gene expression in vivo but not in vitro Mol. Ther. 1 2000 522 532
-
(2000)
Mol. Ther.
, vol.1
, pp. 522-532
-
-
Miao, C.H.1
Ohashi, K.2
Patijn, G.A.3
Meuse, L.4
Ye, X.5
Thompson, A.R.6
Kay, M.A.7
|