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mutation patient mitochondrial protein activity muscle exercise ficiency lmnagt analysis syndrome leigh syndrome study disease heart function effect family control leigh -/- genet lmnagt -/- mice lamin cause result slc 19a defect tissue level i activity acad 9 phosphorylation kinase ndufa assembly netherland thiamine region reactive oxygen species 1 cao 15 cholesterol 508delcftr 3 cao 3 melas syndrome physiol protein kinase c brain horse disorder cardioprotection department table fi broblasts mtdna genetic expression preconditioning identi subunit mouse ataxia channel genistein figure oxidative adenosine candidate oxygen abnormality mapping fi bers signal transduction pathways hypertrophy identi fied blood cerebellar ataxia model broblast phenotype
10 Most Recent Publications
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Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome
(Article)
Gerards, M. Kamps, R. Coo, R.F. de Bosch, B. van den Smeets, H.J.M. Oevelen, J. van Boesten, I. Koning, B. de Scholte, H.R. Schoonderwoerd, K. Sefiani, A. Coppieters, W. Karim, L. |
2013-03-01
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Defective NDUFA9 as a novel cause of neonatally fatal complex I disease
(Article)
van den Bosch, B.J.C. Gerards, M. Schoonderwoerd, K. Coo, I.F.M. de Smeets, H.J. Sluiter, W. Stegmann, A.P.A. Jongen, E.L.C. Hellebrekers, D.M.E.I. Oegema, R. Lambrichs, E.H. Prokisch, H. Danhauser, K. |
2012-01-01
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Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD
(Article)
Westermann, C.M. Dorland, L. Diggelen, O.P. van Schoonderwoerd, K. Bierau, J. Waterham, H.R. Kolk, J.H. van der |
2011-11-01
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Post-natal myogenic and adipogenic developmental:Defects and metabolic impairment upon loss of a-type lamins
(Article)
Kubben, N. Voncken, J.W. Calis, C. Houten, S.M. Misteli, T. Pinto, Y.M. Koning, G.A. Weeghel, M. van Hoogenhof, M.M.G. van den Gijbels, M. Erk, A. van Schoonderwoerd, K. Bosch, B. van den Dahlmans, V. |
2011-07-18
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Riboflavin-responsive oxidative phosphorylation complex i deficiency caused by defective ACAD9: New function for an old gene
(Article)
Gerards, M. Bosch, B.J. van den Prokisch, H. Rötig, A. Coo, I.F.M. de Smeets, H.J. Danhauser, K. Serre, V. Weeghel, M. van Wanders, R.J.A. Nicolaes, G.A.F. Sluiter, W. Schoonderwoerd, K. Scholte, H.R. |
2011-01-01
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Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy
(Article)
Gerards, M. Bosch, B. van den Calis, C. Schoonderwoerd, K. Engelen, K. van |
2010-08-01
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Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome
(Article)
Gerards, M. Sluiter, W. Hendrickx, A. Coo, I.F.M. de Smeets, H.J. Bosch, B.J. van den Wit, L.E.A. de Calis, C. Frentzen, M. Akbari, H. Schoonderwoerd, K. Scholte, H.R. Jongbloed, R.J. |
2010-08-01
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Phenotypic consequences of a novel SCO2 gene mutation
(Article)
Verdijk, R.M. Krijger, R.R. de Schoonderwoerd, K. Tiranti, V. Smeets, H. Govaerts, L.C. Coo, R.F. de |
2008-11-01
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Ischemic preconditioning modulates mitochondrial respiration, irrespective of the employed signal transduction pathway
(Article)
Liem, D.A. Manintveld, O.C. Schoonderwoerd, K. McFalls, E.O. Heinen, A. Verdouw, P.D. Sluiter, W. Duncker, D.J.G.M. |
2008-01-01
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Cholesterol depletion and genistein as tools to promote F508delCFTR retention at the plasma membrane
(Article)
Lim, C.H. Bijvelds, M.J. Nigg, A.L. Schoonderwoerd, K. Houtsmuller, A.B. Jonge, H.R. de Tilly, B.C. |
2007-09-05
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