-
1
-
-
0034799180
-
Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse)
-
E. Baumgart I. Vanhorebeek M. Grabenbauer M. Borgers P.E. Declercq H.D. Fahimi M. Baes Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse) Am. J. Pathol. 159 2001 1477-1494
-
(2001)
Am. J. Pathol.
, vol.159
, pp. 1477-1494
-
-
Baumgart, E.1
Vanhorebeek, I.2
Grabenbauer, M.3
Borgers, M.4
Declercq, P.E.5
Fahimi, H.D.6
Baes, M.7
-
2
-
-
0030015691
-
Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle
-
H.A. Bentlage U. Wendel H. Schagger H.J. ter Laak A.J. Janssen J.M. Trijbels Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle Neurology 47 1996 243-248
-
(1996)
Neurology
, vol.47
, pp. 243-248
-
-
Bentlage, H.A.1
Wendel, U.2
Schagger, H.3
ter Laak, H.J.4
Janssen, A.J.5
Trijbels, J.M.6
-
4
-
-
0028291367
-
An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria
-
M.A. Birch-Machin H.L. Briggs A.A. Saborido L.A. Bindoff D.M. Turnbull An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria Biochem. Med. Metab. Biol. 51 1994 35-42
-
(1994)
Biochem. Med. Metab. Biol.
, vol.51
, pp. 35-42
-
-
Birch-Machin, M.A.1
Briggs, H.L.2
Saborido, A.A.3
Bindoff, L.A.4
Turnbull, D.M.5
-
5
-
-
0031025165
-
Mitochondrial function in muscle from elderly athletes
-
E.J. Brierley M.A. Johnson A. Bowman G.A. Ford F. Subhan J.W. Reed O.F. James D.M. Turnbull Mitochondrial function in muscle from elderly athletes Ann. Neurol. 41 1997 114-116
-
(1997)
Ann. Neurol.
, vol.41
, pp. 114-116
-
-
Brierley, E.J.1
Johnson, M.A.2
Bowman, A.3
Ford, G.A.4
Subhan, F.5
Reed, J.W.6
James, O.F.7
Turnbull, D.M.8
-
6
-
-
0038497518
-
Mitochondrial oxidative phosphorylation: Pitfalls and tips in measuring and interpreting enzyme activities
-
D. Chretien P. Rustin Mitochondrial oxidative phosphorylation: Pitfalls and tips in measuring and interpreting enzyme activities J. Inherit. Metab. Dis. 26 2003 189-198
-
(2003)
J. Inherit. Metab. Dis.
, vol.26
, pp. 189-198
-
-
Chretien, D.1
Rustin, P.2
-
8
-
-
0032518849
-
Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes
-
D. Chretien J. Gallego A. Barrientos J. Casademont F. Cardellach A. Munnich A. Rotig P. Rustin Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes Biochem. J. 329 1998 249-254
-
(1998)
Biochem. J.
, vol.329
, pp. 249-254
-
-
Chretien, D.1
Gallego, J.2
Barrientos, A.3
Casademont, J.4
Cardellach, F.5
Munnich, A.6
Rotig, A.7
Rustin, P.8
-
9
-
-
0034085995
-
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Possible diagnostic pitfalls
-
A.M. Das R. Fingerhut R.J. Wanders K. Ullrich Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Possible diagnostic pitfalls Eur. J. Pediatr. 159 2000 243-246
-
(2000)
Eur. J. Pediatr.
, vol.159
, pp. 243-246
-
-
Das, A.M.1
Fingerhut, R.2
Wanders, R.J.3
Ullrich, K.4
-
12
-
-
15844414869
-
Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy
-
G. Hofhaus D.R. Johns O. Hurko G. Attardi A. Chomyn Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy J. Biol. Chem. 271 1996 13155-13161
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 13155-13161
-
-
Hofhaus, G.1
Johns, D.R.2
Hurko, O.3
Attardi, G.4
Chomyn, A.5
-
13
-
-
0037223749
-
Some practical aspects of providing a diagnostic service for respiratory chain defects
-
A.J. Janssen J.A. Smeitink L.P. van den Heuvel Some practical aspects of providing a diagnostic service for respiratory chain defects Ann. Clin. Biochem. 40 2003 3-8
-
(2003)
Ann. Clin. Biochem.
, vol.40
, pp. 3-8
-
-
Janssen, A.J.1
Smeitink, J.A.2
van den Heuvel, L.P.3
-
15
-
-
0028990381
-
Mitochondrial toxicity of antiviral drugs
-
W. Lewis M.C. Dalakas Mitochondrial toxicity of antiviral drugs Nat. Med. 1 1995 417-422
-
(1995)
Nat. Med.
, vol.1
, pp. 417-422
-
-
Lewis, W.1
Dalakas, M.C.2
-
16
-
-
0029978235
-
Fialuridine and its metabolites inhibit DNA polymerase gamma at sites of multiple adjacent analog incorporation, decrease mtDNA abundance, and cause mitochondrial structural defects in cultured hepatoblasts
-
W. Lewis E.S. Levine B. Griniuviene K.O. Tankersley J.M. Colacino J.P. Sommadossi K.A. Watanabe F.W. Perrino Fialuridine and its metabolites inhibit DNA polymerase gamma at sites of multiple adjacent analog incorporation, decrease mtDNA abundance, and cause mitochondrial structural defects in cultured hepatoblasts Proc. Natl Acad. Sci. USA 93 1996 3592-3597
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 3592-3597
-
-
Lewis, W.1
Levine, E.S.2
Griniuviene, B.3
Tankersley, K.O.4
Colacino, J.M.5
Sommadossi, J.P.6
Watanabe, K.A.7
Perrino, F.W.8
-
22
-
-
0030051689
-
Familial cardiomyopathy with cataracts and lactic acidosis: A defect in complex I (NADH-Dehydrogenase) of the mitochondria respiratory chain
-
S. Pitkanen F. Merante D.R. Mcleod D. Applegarth T. Tong B.H. Robinson Familial cardiomyopathy with cataracts and lactic acidosis: A defect in complex I (NADH-Dehydrogenase) of the mitochondria respiratory chain Pediatr. Res. 39 1996 513-521
-
(1996)
Pediatr. Res.
, vol.39
, pp. 513-521
-
-
Pitkanen, S.1
Merante, F.2
Mcleod, D.R.3
Applegarth, D.4
Tong, T.5
Robinson, B.H.6
-
25
-
-
0033832914
-
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
-
C. Scharfe M. Hauschild T. Klopstock A.J. Janssen P.H. Heidemann T. Meitinger M. Jaksch A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I J. Med. Genet. 37 2000 669-673
-
(2000)
J. Med. Genet.
, vol.37
, pp. 669-673
-
-
Scharfe, C.1
Hauschild, M.2
Klopstock, T.3
Janssen, A.J.4
Heidemann, P.H.5
Meitinger, T.6
Jaksch, M.7
-
26
-
-
0028967298
-
Isolated mitochondria from frozen muscle have limited value in diagnostics
-
H.R. Scholte J.M. Trijbels Isolated mitochondria from frozen muscle have limited value in diagnostics Eur. J. Pediatr. 154 1995 80
-
(1995)
Eur. J. Pediatr.
, vol.154
, pp. 80
-
-
Scholte, H.R.1
Trijbels, J.M.2
-
27
-
-
0035024320
-
Diagnosis of mitochondrial disorders: Clinical and biochemical approach
-
D.R. Thorburn J. Smeitink Diagnosis of mitochondrial disorders: Clinical and biochemical approach J. Inher. Metab. Dis 24 2001 312-316
-
(2001)
J. Inher. Metab. Dis
, vol.24
, pp. 312-316
-
-
Thorburn, D.R.1
Smeitink, J.2
-
29
-
-
0025126453
-
Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies
-
X. Zheng J.M. Shoffner A.S. Voljavec D.C. Wallace Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies Biochim. Biophys. Acta 1019 1990 1-10
-
(1990)
Biochim. Biophys. Acta
, vol.1019
, pp. 1-10
-
-
Zheng, X.1
Shoffner, J.M.2
Voljavec, A.S.3
Wallace, D.C.4
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