PD Dr. med. Michaela Jaksch-Angerer
Curriculum Vitae
PD Dr. med. Michaela Jaksch-Angerer
Research Group
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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).
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Scholarships and Research Awards
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1998
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Research Award of the DGM, Freiburg, Germany
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1998
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Scholarship of the German Society of Clinical Chemistry, Research Work at the McGill
University, Montreal, Canada
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2002 |
Research Award (Neuromuscular Disorders) of the DGM, Freiburg, Germany
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Research grants
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Projects |
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Head |
Mitochondrial DNA and Susceptibility
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DFG: 1997 – 1999 |
Dr. M. Jaksch |
Causes of mitochondrial diseases /Monochromosome transfer
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DFG: 1999-2001
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Dr. M. Jaksch |
Support of the establishment of a laboratory for molecular genetic analyses in South
Korea
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DFG: 2000-2002 Collaboration with Prof. SH Kim)
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Dr. M. Jaksch Prof. Dr. Sang-Ho Kim
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The role of the copper metabolism in mitochondria in the development of hypertrophic
cardiomyopathies
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Ernst und Berta Grimmke Stiftung: 2000-2002 |
Dr. M. Jaksch |
Synthesis of antibodies (anti-Sco2)
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Friedrich-Baur-Stiftung: 2000-2001 |
PD Dr. Hanns Lochmüller and Dr. M. Jaksch
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Combined strategy to detect causes of cytochrom-c-oxidase deficiency
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DFG: 2001-2006 |
Dr. M. Jaksch |
Second grant for „ the role of the copper metabolism in mitochondria in the development
of hypertrophic cardiomyopathies“
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Ernst und Berta Grimmke Stiftung: 2002 – 2004
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Dr. M. Jaksch |
EU grant for ‘the role of coenzyme Q10’
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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