CV of PD Dr. Michaela Jaksch-Angerer | Mitochondrial Disease Testing | Freiburg Medical Laboratory, Dubai

+971-4-396 2227
info@fml-dubai.com

LAB HOURS: MON - THU and SAT : 9:00 AM to 9:00 PM

FRI and SUN : 9:00 AM to 6:00 PM

online services

Online Reports

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

Projects		Head
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

Accreditation

Accredited according to DIN EN ISO 15189

Our Partners

Lab hours

MON - THU and SAT 9:00 AM to 9:00 PM | FRI and SUN : 9:00 AM to 6:00 PM

Key Technical Personnel

Copyright © 2024 All rights reserved | FREIBURG MEDICAL LABORATORY MIDDLE EAST (L.L.C)