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Curriculum Vitae

Curriculum Vitae

Curriculum Vitae - PD Dr. med. Michaela Jaksch-Angerer

Research Group


Since 1997 Head of own Research Group, Supported by the Deutsche Forschungsgemeinschaft and Others: (Dr. Rita Horvath, Neurologist; Ruth Rubio, Biologist; Anja Zimmermann, Technician). Project Guidance and Instruction (Supervisor) for Medical Students (Preparation of Theses).


Scholarships and Research Awards


1998 Research Award of the DGM, Freiburg, Germany

1998 Scholarship of the German Society of Clinical Chemistry, Research Work at the McGill University, Montreal, Canada

2002 Research Award (Neuromuscular Disorders) of the DGM, Freiburg, Germany


Research grants





Mitochondrial DNA and Susceptibility

DFG: 1997 – 1999 Dr. M. Jaksch
Causes of mitochondrial diseases /Monochromosome transfer

DFG: 1999-2001 Dr. M. Jaksch
Support of the establishment of a laboratory for molecular genetic analyses in South Korea

DFG: 2000-2002 Collaboration with Prof. SH Kim) Dr. M. Jaksch Prof. Dr. Sang-Ho Kim
The role of the copper metabolism in mitochondria in the development of hypertrophic cardiomyopathies

Ernst und Berta Grimmke Stiftung: 2000-2002 Dr. M. Jaksch
Synthesis of antibodies (anti-Sco2)

Friedrich-Baur-Stiftung: 2000-2001 PD Dr. Hanns Lochmüller and Dr. M. Jaksch
Combined strategy to detect causes of cytochrom-c-oxidase deficiency

DFG: 2001-2006 Dr. M. Jaksch
Second grant for „ the role of the copper metabolism in mitochondria in the development of hypertrophic cardiomyopathies“

Ernst und Berta Grimmke Stiftung: 2002 – 2004 Dr. M. Jaksch
EU grant for ‘the role of coenzyme Q10’

Since 2004 PD Dr. M. Jaksch and others


Publication List (PD Dr. med. Michaela Jaksch)
Last update December 2007

Name in Italics: First- or Senior authorship; * Correspondence.

1) Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Bohles H, Fotschl U, Koch J, Jaksch M, Lochmueller H, Horvath R, Freisinger P, Sperl, W (2007) Mitochondrial phosphate carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet, 80: 478 – 484

2) Horvath R, Abicht A, Laner A, Holinski-Feder, Prokisch H, Lochmueller H, Klopstock T, Jaksch M (2006) Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). J Neurol Neurosurg Psychiatry, 77: 74 – 76

3) Horvath R, Schoser BGH, Mueller-Hoecker J, Voelpel M, Jaksch M, Lochmueller H (2005) Mitochondrial myopathy, myoglobinuria and life-threatening lactic acidosis due to mutations in mitochondrial cytochrome c oxidase subunit genes. Neuromuscular Disorders, 12:851 – 857

3) Horvath R, Lochmuller H, Hoeltzenbein M, Muller-Hocker J, Schoser BG, Pongratz D, Jaksch M* (2004) Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene (2004) J Med Genet 41:e75.

4) Mollers M, Maniura-Weber K, Kiseljakovic E, Bust M, Hayrapetyan A, Jaksch M, Helm M, Wiesner RJ von Kleist Retzow JC (2005) Impairment of post-transcriptional maturation and severe depletion in mitochondrial tRNA Ser(UCN) caused by T7512C and G7497A point mutations. Nucleic Acids Research, 33:5647 - 5658

5) Horvath R, Freisinger P, Rubio R, Merl T, Bax R, Mayr JA, Shawan, Mueller-Hocker J, Pongratz D, Moller LB, Horn N, Jaksch M *(2005) Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. J Inherit Metabol Dis 28: 479-492

6)Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmuller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM (2004) Risk of developing a mitochondrial DNA deletion disorder. Lancet 364:592-596

7) Kiechl S, Horvath R, Luoma P, Kiechl-Kohlendorfer U, Wallacher-Scholz B, Stucka R, Thaler C, Wanschitz J, Suomalainen A, Jaksch M, Willeit J (2004). Two families with autosomal dominant progressive external ophthalmoplegia. J Neurol Neurosurg Psychiatry 75:1125-1128.

8) Leary SC, Kaufman BA, Pellecchia G, Guercin GH, Mattman A, Jaksch M, Shoubridge EA (2004). Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase (2004) Hum Mol Genet 13:1839-1848.

9) Horvath R, Lochmuller H, Hoeltzenbein M, Muller-Hocker J, Schoser BG, Pongratz D, Jaksch M* (2004) Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene (2004) J Med Genet 41:e75.

10) Freisinger P, Horvath R, Macmillan C, Peters J, Jaksch M* (2004) Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper? J Inherit Metab Dis: 27:67-79.

11) Zarnowski T, Jaksch M, Zagorski Z (2003). Kearns-Sayre syndrome, abnormal corneal endothelium and normal tension glaucoma. Acta Opht Scand, 81:543 – 545

12) Antonicka H, Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG, Harding CO, Jaksch M, Shoubridge EA (2003) Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early onset clinical phenotypes associated with isolated COX deficiency. Hum Mol Genet 12: 2693 - 2702

13) Horvath R, Lochmuller H, Scharfe C, Do BH, Oefner PJ, Muller Hocker J, Schoser BG, Pongratz D, Auer DP, Jaksch M*(2003). A tRNA Alanine mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy type 2. J Med Genet, 40:752-757

14) Horvath R, Scharfe C, Hoeltzenbein M, Do BH, Warzok R, Vogelgesang S, Schroeder C, Lochmuller H, Mueller-Hoecker J, Gerbitz KD, Oefner P, Jaksch M* (2002) Childhood-onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. J Med Genet, 39:812-816

15) Wanschitz J, Nakano S, Goudeau B, Ströbel T, Rinner W, Wimmer G, Resch H, Jaksch M, Akiguchi I, Vicart P, Budka H (2002). Myofibrillar myopathy: clinico-pathological spectrum in three cases and review of the literature. Clin Neuropathol, 21: 220-231

16) Taanman JW, Chatib I, Muntau AC, Jaksch M, Cohen N, Mandel H (2002). A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. Ann Neurol, 52: 237-239

17) Jaksch M*, Paret C, Stucka R, Horn N, Mueller-Hoecker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, Lochmuller H (2001). Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Hum Mol Genet 26: 3025-3035

18) Jaksch M*, Lochmuller H, Schmitt F, Volpel B, Obermaier-Kusser B, Horvath R (2001). A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract. Neurology 57:1930

19) Jaksch M*, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Muller-Hocker J, Gerbitz KD, Liechti-Gallati S, Lochmuller H, Horvath R (2001). Frequency of Mitochondrial tRNA Mutations and Deletions in 225 Patients Presenting with Respiratory Chain Deficiencies (2001) J Med Genet 38:665-673.

20) Müller-Höcker J, Muntau A, S.Schäfer, Jaksch M, Staudt F, Pongratz D, Taanman JW. Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis. Hum Path 33:247-253

21) Finsterer J, Stöllberger C, Wanschitz J, Jaksch M, Budka H (2001) Mitochondrial Myopathy in Nail-Patella Syndrome. Eur Neurol 46:92-95

22) Kottlors M, Jaksch M, Ketelsen U-P, Weiner S, Glocker F-X, Lücking C-H (2001) Valproic Acid Triggers Acute Rhabdomyolysis in a Patient with Carnitine Palmitoyltransferase Type II Deficiency. Neuromuscul Disord 11:757-759

23) Jaksch M*, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Shoubridge EA, Krägeloh-Mann I, Lochmüller H, Freisinger P (2001). Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Neurology 57:1440-1446

24) Thirion C, Stucka R, Mendel B, Gruhler A, Jaksch M, Nowak KJ, Binz N, Laing NG, Lochmüller H (2001). Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle. Eur J Biochem 268: 3473-3482



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