Publications

Peer-reviewed publications

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Sauer, S.W., Opp, S., Okun, J.G., Kölker, S.*, and Morath, M.A.* (2009). Long-term exposure to human proximal tubule cells to hydroxy-cobalamin-[c-lactam] – a suitable model to study the manifestation of renal disease in methylmalonic acidurias? J. Inherit. Metab. Dis. in press.

Ahmed, K., Tunaru, S., Langhans, C.D., Hanson, J., Michalski, C.W., Kölker, S., Jones, P.M., Okun, J.G., and Offermanns, S. (2009). Deorphanisation of GPR109B as a receptor for the beta-oxidation intermediate 3-OH-octanoic acid and its role in the regulation of lipolysis. J. Biol. Chem. June 26, epub ahead of print.

Hörster, F., Garbade. S.F., Zwickler, T., Aydin, H.I., Bodamer, O.A., Burlina, A.B., Das, A.M., DeKlerk, J.B.C., Dionisi-Vici, C., Geb, S., et al. (2009). Prediction of outcome in isolated methylmalonic acidurias: Combined use of clinical and biochemical parameters. J. Inherit. Metab. Dis. Jul 31, epub ahead of print.

Harting, I., Neumaier-Probst, E., Seitz, A., Maier, E.M., Assmann, B., Baric, I., Troncoso, M., Mühlhausen, C., Zschocke, J., Boy, N.P.S., Hoffmann, G.F., Garbade, S.F., and Kölker, S. (2009). Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain 132, 1764-1782.

Teufel, U., Weitz, J., Flechtenmacher, C., Prietsch, V., Kölker, S., Schmidt, J., Hoffmann, G.F., and Engelmann, G. (2009). High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure. Pediatr. Transplant. April 23, epub ahead of print.

Harting, I., Seitz, A., Geb, S., Zwickler, T., Porto, L., Lindner, M., Kölker, S., and Hörster, F. (2008). Looking beyond the basal ganglia: the spectrum of MRI changes in methylmalonic acidemia. J. Inherit. Metab. Dis. 31, 368-378.

Lindner, M., Ho, S., Kölker, S., Abdoh, G., Hoffmann, G.F., and Burgard, P. (2008). Newborn screening for methylmalonic acidurias – Optimization by statistical parameter combination. J. Inherit. Metab. Dis. 31, 379-385.

Zwickler, T., Lindner, M., Aydin, H.I., Baumgartner, M.R., Bodamer, O.A., Burlina, A.B., Das, A.M., deKlerck, J.B.C., Gökcay, G., Grünewald, S., et al. (2008). Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centers. J. Inherit. Metab. Dis. 31, 361-367.

Keyser, B., Glatzel, M., Stellmer, F., Kortmann, B., Lukacs, Z., Kölker, S., Sauer, S.W., Muschol, N., Herdering, W., Thiem, J., et al. (2008). Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type I. Biochim. Biophys. Acta 1782, 385-390.

Sauer, S.W., Okun, J.G., Hoffmann, G.F., Kölker, S., and Morath, M.A. (2008). Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism. Biochim. Biophys. Acta 1777, 1276-1282.

Sauer, S.W., Kölker, S., Hoffmann, G.F., ten Brink, H.J., Jakobs, C., Gibson, K.M., and Okun, J.G. (2007). Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase (SSADH) deficiency (Aldh5a1-/- mice). Neurochem. Int. 50, 653-639.

Kölker, S., Christensen, E., Leonard, J.V., Greenberg, C.R., Burlina, A.B., Burlina, A.P., Dixon, M., Duran, M., Goodman, S.I., Koeller, D.M., et al. (2007). Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J. Inherit. Metab. Dis. 30, 5-22.

Hörster, F., Baumgartner ,M.R., Viardot, C., Suormala, T., Burgard, P., Fowler, B., Hoffmann, G.F., Garbade, S.F., Kölker, S., and Baumgartner, E.R. (2007). Long-term outcome in methylmalonic acidurias is determined by the underlying defect (mut0, mut-, cblA, cblB). Pediatr. Res. 62, 225-230.

Kölker, S., Garbade S.F., Boy, N., Maier, E.M., Meissner, T., Mühlhausen, C., Hennermann, J., Brackmann, R., Lücke, T., Häberle, J., et al. (2007). Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by neonatal screening in Germany. Pediatr. Res. 62, 357-363.

Kölker, S., Sauer, S.W., Surtees, R.A.H., and Leonard, J.V. (2006). The aetiology of neurological complications of organic acidemias – a role for the blood-brain barrier. J. Inherit. Metab. Dis. 29, 701-704.

Köppel, S., Gottschalk, J., Hoffmann, G.F., Waterham, H.R., Blobel, H., and Kölker, S. (2006). Late-onset multiple acyl-CoA dehydrogenase deficiency: A frequently missed diagnosis? Neurology 67, 1519.

Schwab, M.A., Sauer, S.W., Okun, J.G., Nijtmans, L.G.J., Rodenburg, R.J.T., van den Heuvel, L.P., Dröse, S., Brandt, U., Hoffmann, G.F., ter Laak, H., Kölker, S.*, and Smeitink, J.A.M.* (2006). Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins. Biochem. J. 398, 107-112.

Sauer, S.W., Okun, J.G., Fricker, G., Mahringer, A., Müller, I., Crnic, L.R., Mühlhausen, C., Hoffmann, G.F., Hörster, F., Goodman, S.I., Harding, C.O., Koeller, D.M., and Kölker, S. (2006). Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency. J. Neurochem. 97, 899-910.

Lindner, M., Ho, S., Fang-Hoffmann, J., Hoffmann, G.F., and Kölker, S. (2006). Neonatal screening for glutaric aciduria type I: Strategies to proceed. J. Inherit. Metab. Dis. 29, 378-382.
Hörster, F., Schwab, M.A., Sauer, S.W., Pietz, J., Hoffmann, G.F., Okun, J.G., Kölker, S.*, Kins, S.* (2006). Phenylalanine reduces synaptic density in mixed cortical cultures from mice. Pediatr Res 59, 544-548.

Kölker, S., Garbade, S.F., Greenberg, C.R., Leonard, J.V., Saudubray, J.M., Ribes, A., Kalkanoglu, H.S., Lund, A.M., Merinero, B., Wajner, M., et al. (2006). Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr. Res. 59, 840-847.

Sauer, S.W., Okun, J.G., Schwab, M.A., Crnic, L.R., Hoffmann, G.F., Goodman, S.I., Koeller, D.M., and Kölker, S. (2005). Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency, a role for glutaryl-coenzyme A. J. Biol. Chem. 280, 21830-21836.

Schwab, M.A.*, Kölker, S.*, van den Heuvel, L.P., Sauer, S., Wolf, N.I., Rating, D., Hoffmann, G.F., Smeitink, J.A.M., and Okun, J.G. (2005). A novel spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts. Clin. Chem. 51, 151-160.

Funk, C.B.R., Prasad, A.N., Frosk, P., Sauer, S., Kölker, S., Greenberg, C.R., and del Bigio, M. (2005). Neuropathological, biochemical, and molecular findings in a glutaric acidemia type 1 cohort. Brain 128, 711-722.

Schulze-Bergkamen, A., Okun, J.G., Spiekerkötter, U., Lindner, M., Haas, D., Kohlmüller, D., Mayatepek, E., Schulze-Bergkamen, H., Greenberg, C.R., Zschocke, J., Hoffmann, G.F., and Kölker, S. (2005). Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: Biochemical confirmation of fatty acid oxidation and organic acid disorders. Pediatr. Res. 58, 873-880.

Külkens, S., Harting, I., Sauer, S., Zschocke, J., Hoffmann, G.F., Gruber, S., Bodamer, O.A., and Kölker, S. (2005). Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Neurology 64, 2142-2144.

Lindner M, Kölker S*, Schulze A, Christensen E, Greenberg CR, Hoffmann GF (2004) Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis; 27: 851-859.

Schmitt, C.P., Mehls, O., Trefz, K.F., Hörster, F., Weber, T.L., and Kölker, S. (2004). Reversible end-stage renal disease in a patient with methylmalonic aciduria. Pediatr. Nephrol. 19, 1182-1184.

Kölker, S., Schwab, M., Hörster, F., Hinz, A., Sauer, S., Wolf, N.I., Rating, D., Hoffmann, G.F., Mayatepek, E., Smeitink, J.A.M., and Okun, J.G. (2003). Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain. J. Biol. Chem. 278, 47393-47388.

Kölker, S., Hoffmann, G.F., Schor, D.S.M., Feyh, P., Wagner, L., Jeffrey, I., Pourfarzam, M., Okun, J.G., Baric, I., Bain, M.D., Jakobs, C., and Chalmers, R.A. (2003). Glutaryl-CoA dehydrogenase deficiency: Regional-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. Neuropediatrics 34, 253-260.

Ahlemeyer, B., Kölker, S., Zhu, Y., Hoffmann, G.F., and Krieglstein, J. (2003). Cytosine arabinofuranoside-induced activation of astrocytes increases the susceptibility of neurons to glutamate due to the release of soluble factors. Neurochem. Int. 42, 567-581.

Reviews


Kölker, S., Sauer, S.W., Hoffmann, G.F., Müller, I., Morath, M.A., and Okun, J.G. (2008). Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism. J. Inherit. Metab. Dis. 31, 194-204.

Morath, M.A., Okun, J.G., Müller, I.B., Sauer, S.W., Hörster, F., Hoffmann, G.F., and Kölker, S. (2008). Neurodegeneration and chronic renal failure in methylmalonic aciduria – A pathophysiological approach. J. Inherit. Metab. Dis. 31, 35-43.

Kölker, S., and Okun, J.G. (2005). Methylmalonic acid – an endogenous toxin? Cell. Mol. Life Sci. 62, 621-624.

Kölker, S., Koeller, D.M., Okun, J.G., and Hoffmann, G.F. (2004). Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency. Ann. Neurol. 55, 7-12.

Kölker, S., Koeller, D.M., Sauer, S., Hörster, F., Schwab, M.A., Hoffmann, G.F., Okun, J.G. (2004). Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency. J. Inherit. Metab. Dis. 27, 805-812.

 

Editor: A. Summerfield
Latest Revision: 2013-02-12
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