Stoffwechselerkrankungen
1.) Taanman JW, Kateeb 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
2.) Hofman S, Rothbauer U, Muhlenbein N, Nneupert W, Gerbitz KD, Brunner M,
Bauer MF (2002) The C66W mutation in the deafness dystonia peptide 1 (DDP1)
affects the formation of functional DDP1.TIM13 complexes in the mitochondrial
intermembrane space.
J Biol Chem. 277:23287-23293
4.) Elliott AM, Gonzales M, Hoeffel JC, Le Merrer M, Maroteaux P, Fleigel C, Aughton DJ, Beaudry-Rodgers K, Hast F, Wilcox WR, Rimoin DL, Lachman RS, Freisinger P (2002) Three New Cases of a Lethal Skeletal Dysplasia distinct from Neu-Laxova Syndrome. Am J Med Gen, 109:139-148
6.) Gempel K, Kiechl S, Hofmann S, Lochmüller H, Kiechl-Kohlendorfer U, Willeit J, Sperl W, Rettinger A, Bieger I, Pongratz D, Gerbitz KD, Bauer MF (2002). Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. J Inherit Metab Dis, 25: 17-27
7.) Rettinger A, Gempel K, Hofmann S, Gerbitz KD, Bauer MF (2002). Tandem mass
spectrometric assay for the determination of carnitine palmitoyltransferase
II activity in muscle tissue. Anal Biochem, 302:246-251
8.) Müller-Höcker J, Muntau A, S.Schäfer, Jaksch M, Staudt F, Pongratz D, Taanman JW (2002). Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis. Hum Pathology, 33:247-253
9.) Rothbauer U, Hofmann S, Muhlenbein N, Paschen SA, Gerbitz KD, Neupert W, Brunner M, Bauer MF (2001)Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria. J Biol Chem. 276:37327-334.
10.) Stadler S, Gempel K, Bieger I, Pontz BF, Gerbitz KD, Bauer MF, Hofmann S. Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry. J Inherit Metab Dis 2001; 24: 370-378
11.) Gempel K, von Praun C, Baumkoetter J, Lehnert W, Ensenauer R, Gerbitz KD, Bauer MF. „Adult“ form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child. Eur J Pediatr 2001; 160: 548-551
12.) Jaksch M, Horvath R, Horn N, Auer DP, MD, Macmillan C, Peters J, Gerbitz K-D, Krägeloh-Mann I, Lochmüller H, Shoubridge EA, Freisinger P (2001)A Homozygous G1541A Mutation in SCO2 is Associated with Leigh-like Syndrome, Neuropathy and Late Onset Fatal Infantile Cardioencephalomyopathy. Neurology, 57:1440-1446.
13.) Jaksch M, Claudia Paret, Rolf Stucka, Nina Horn, Josef Müller-Höcker,
Rita Horvath, Nadine Trepesch, Gerhard Stecker, Peter Freisinger, Christian
Thirion, Juliane Müller, Renate Lunkwitz, Gerhard Rödel, Eric A. Shoubridge
and Hanns Lochmüller (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, 10: 3025-3035
14.) Jaksch M, Lochmuller H, Schmitt F, Volpel B, Obermaier-Kusser B, Horvath R (2001) A mutation in mt tRNA Leu (UUR) causing a neuropsychiatric syndrome with depression and cataract (2001) Neurology, 57: 1930-1931.
15.) Jaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Muller-Hocker J, Gerbitz KD, Liechti-Gallati S, Lochmuller H, Horvath (2001) Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies. J Med Genet.38:665-673.
16.) 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
17.) Hutchin T, Navarro-Coy N, Van Camp G, Tiranti V, Zeviani M, Schuelke M, Jaksch M, Newton V and Mueller R (2001). Multiple origins of the mtDNA 7472 ins C mutation associated with hearing loss and neurological dysfunction. Eur J Hum Genet 9: 385-387
18.) Finsterer J, Stollberger C, Kopsa W, Jaksch M (2001) Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy. Can J Cardiol 17:464-466
19.) Finsterer J, Stollberger C, Wanschitz J, Jaksch M, Budka H (2001) Nail-patella syndrome associated with respiratory chain disorder. Eur Neurol. 2001;46(2):92-5.
20.) Lia-Baldini AS, Muller F, Taillandier A, Gibrat JF, Mouchard M, Robin B, Simon-Bouy B, Serre JL, Aylsworth AS, Bieth E, Delanote S, Freisinger P, Hu JC, Krohn HP, Nunes ME, Mornet E (2001) A molecular approach to dominance in hypophosphatasia.Hum Genet. 2001 Jul;109(1):99-108.
21.) Walch E, Schmidt M, Brenner RE, Emons D, Dame C, Pontz B, Wiestler OD, Bartmann P. Yunis-Varon syndrome: Evidence for a lysosomal storage disease. Am J Med Genet. 2000 Nov 13;95(2):157-160.
22.) Horvath R, Lochmuller H, Stucka R, Yao J, Shoubridge EA, Kim SH, Gerbitz
KD, Jaksch M. Characterization of human SCO1 and COX17 genes in mitochondrial
cytochrome-c-oxidase deficiency.
Biochem Biophys Res Commun. 2000 Sep 24;276(2):530-3.
23.) Scharfe C, Hauschild M, Klopstock T, Janssen AJ, Heidemann PH, Meitinger T, Jaksch M. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. J Med Genet. 2000 Sep;37(9):674-9.
24.) Donzeau M, Kaldi K, Adam A, Paschen S, Wanner G, Guiard B, Bauer MF, Neupert W, Brunner M. Tim23 links the inner and outer mitochondrial membranes. Cell. 2000 May 12;101(4):401-12.
25.) Karbowski A, Schwitalle M, Brenner R, Lehmann H, Pontz B, Worsdorfer O. Experience with Bailey-Dubow rodding in children with osteogenesis imperfecta. Eur J Pediatr Surg. 2000 Apr;10(2):119-24.
26.) Borner GV, Zeviani M, Tiranti V, Carrara F, Hoffmann S, Gerbitz KD, Lochmuller H, Pongratz D, Klopstock T, Melberg A, Holme E, Paabo S. Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. Hum Mol Genet. 2000 Mar 1;9(4):467-75.
27.) Jaksch M, Ogilvie I, Yao J, Kortenhaus G, Bresser HG, Gerbitz KD, Shoubridge
EA.
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy
and cytochrome c oxidase deficiency.
Hum Mol Genet. 2000 Mar 22;9(5):795-801.
28.) Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet. 2000 Mar;24(3):283-6.
29.) Taillandier A, Cozien E, Muller F, Merrien Y, Bonnin E, Fribourg C, Simon-Bouy B, Serre JL, Bieth E, Brenner R, Cordier MP, De Bie S, Fellmann F, Freisinger P, Hesse V, Hennekam RC, Josifova D, Kerzin-Storrar L, Leporrier N, Zabot MT, Mornet E. Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia. Hum Mutat. 2000 Mar;15(3):293.
30.) Bauer MF, Hofmann S, Neupert W, Brunner M. Protein translocation into mitochondria: the role of TIM complexes.Trends Cell Biol. 2000 Jan;10(1):25-31. Review.
31.) Gempel K, Kottlors M, Jaksch M, Gerbitz KD, Bauer MF. Adult carnitine
palmitoyltransferase II deficiency: detection of characteristic carnitine esters
in serum by tandem mass spectrometry.
J Inherit Metab Dis. 1999 Dec;22(8):941-2.
32.) Bauer MF, Rothbauer U, Muhlenbein N, Smith RJ, Gerbitz K, Neupert W, Brunner M, Hofmann S. The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom. FEBS Lett. 1999 Dec 24;464(1-2):41-7
33.) Bauer MF, Gempel K, Hofmann S, Jaksch M, Philbrook C, Gerbitz KD. Mitochondrial disorders. A diagnostic challenge in clinical chemistry.Clin Chem Lab Med. 1999 Sep;37(9):855-76. Review.
34.) Scharfe C, Zaccaria P, Hoertnagel K, Jaksch M, Klopstock T, Dembowski M, Lill R, Prokisch H, Gerbitz KD, Neupert W, Mewes HW, Meitinger T. MITOP, the mitochondrial proteome database: 2000 update.Nucleic Acids Res. 2000 Jan 1;28(1):155-8.
35.) Gempel K, Gerbitz KD, Casetta B, Bauer MF. Rapid determination of total homocysteine in blood spots by liquid chromatography-electrospray ionization-tandem mass spectrometry.Clin Chem. 2000 Jan;46(1):122-3.
36.) Klopstock T, Jaksch M, Gasser T. Age and cause of death in mitochondrial diseases. Neurology. 1999 Sep 11;53(4):855-7.
37.) Kiechl S, Kohlendorfer U, Thaler C, Skladal D, Jaksch M, Obermaier-Kusser B, Willeit J. Different clinical aspects of debrancher deficiency myopathy. J Neurol Neurosurg Psychiatry. 1999 Sep;67(3):364-8.
38.) Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff L, Gerbitz KD, Comi GP, Uziel G, Zeviani M, Meitinger T. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.Ann Neurol. 1999 Aug;46(2):161-6.
39.) Burwinkel B, Kreuder J, Schweitzer S, Vorgerd M, Gempel K, Gerbitz KD, Kilimann MW. Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. Biochem Biophys Res Commun. 1999 Aug 2;261(2):484-7.
40.) Bauer MF, Gempel K, Reichert AS, Rappold GA, Lichtner P, Gerbitz KD, Neupert W, Brunner M, Hofmann S. Genetic and structural characterization of the human mitochondrial inner membrane translocase. J Mol Biol. 1999 May 28;289(1):69-82.
41.) Gerbitz KD. Reflexions on a newly discovered diabetogenic gene, wolframin (WFS1).Diabetologia. 1999 May;42(5):627-30. Review.
42.) Engelhardt H, Staudt M, Hassler A, Holzbach U, Freisinger P, Krageloh-Mann I. Carbohydrate-deficient glycoprotein syndrome type 2. J Inherit Metab Dis. 1999 Apr;22(2):192-3.
43.) Scharfe C, Zaccaria P, Hoertnagel K, Jaksch M, Klopstock T, Lill R, Prokisch H, Gerbitz KD, Mewes HW, Meitinger T. MITOP: database for mitochondria-related proteins, genes and diseases. Nucleic Acids Res. 1999 Jan 1;27(1):153-5.
44.) Kaldi K, Bauer MF, Sirrenberg C, Neupert W, Brunner M. Biogenesis of Tim23 and Tim17, integral components of the TIM machinery for matrix-targeted preproteins.EMBO J. 1998 Mar 16;17(6):1569-76.
45.) Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz DE, Muller-Hocker J, Jedele KB, Meitinger T, Gerbitz KD. A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. J Med Genet. 1998 Nov;35(11):895-900.
46.) Jaksch M, Klopstock T, Kurlemann G, Dorner M, Hofmann S, Kleinle S, Hegemann S, Weissert M, Muller-Hocker J, Pongratz D, Gerbitz KD. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene. Ann Neurol. 1998 Oct;44(4):635-40.
47.) Hofmann S, Lichtner P, Schuffenhauer S, Gerbitz KD, Meitinger T. Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome bands 15q25, 8q22-->q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14-->q21 by FISH and radiation hybrid mapping.Cytogenet Cell Genet. 1998;83(3-4):226-7.
48.) Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, Bussiere P, Freisinger P, Godard J, Le Merrer M, Oury JF, Plauchu H, Puddu R, Rival JM, Superti-Furga A, Touraine RL, Serre JL, Simon-Bouy B. Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur J Hum Genet. 1998 Jul-Aug;6(4):308-14.
49.) Strom TM, Hortnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz KD, Meitinger T. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet. 1998 Dec;7(13):2021-8.
50.) Nerlich AG, Freisinger P.Severe rhizomelic skeletal dysplasia in a museum skeleton. Skeletal Radiol. 1998 Jan;27(1):46-9.
51.) Staudt M, Wermuth B, Freisinger P, Hassler A, Pontz BF. Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity. J Inherit Metab Dis. 1998 Feb;21(1):71-2.
52.) Sirrenberg C, Endres M, Becker K, Bauer MF, Walther E, Neupert W, Brunner M. Functional cooperation and stoichiometry of protein translocases of the outer and inner membranes of mitochondria. J Biol Chem. 1997 Nov 21;272(47):29963-6.
53.) Hofmann S, Bezold R, Jaksch M, Kaufhold P, Obermaier-Kusser B, Gerbitz KD. Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome. Mol Cell Biochem. 1997 Sep;174(1-2):209-13.
54.) Hofmann S, Jaksch M, Bezold R, Mertens S, Aholt S, Paprotta A, Gerbitz KD. Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet. 1997 Oct;6(11):1835-46.
55.) Arnold I, Bauer MF, Brunner M, Neupert W, Stuart RA. Yeast mitochondrial
F1F0-ATPase: the novel subunit e is identical to Tim11. FEBS Lett. 1997 Jul
14;411(2-3):195-200
Hofmann S, Bezold R, Jaksch M, Kaufhold P, Obermaier-Kusser B, Gerbitz KD. Disease
relevance of the so-called secondary Leber hereditary optic neuropathy mutations.
Am J Hum Genet. 1997 Jun;60(6):1539-42.
56.) Hammami-Hauasli N, Kalinke DU, Schumann H, Kalinke U, Pontz BF, Anton-Lamprecht I, Pulkkinen L, Zimmermann M, Uitto J, Bruckner-Tuderman L. A combination of a common splice site mutation and a frameshift mutation in the COL7A1 gene: absence of functional collagen VII in keratinocytes and skin. J Invest Dermatol. 1997 Sep;109(3):384-9.
57.) Hofmann S, Bezold R, Jaksch M, Obermaier-Kusser B, Mertens S, Kaufhold P, Rabl W, Hecker W, Gerbitz KD. Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes.Genomics. 1997 Jan 1;39(1):8-18.
58.) Nerlich AG, Freisinger P, Bonaventure J. Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3. Am J Med Genet. 1996 May 3;63(1):155-60.
59.) Freisinger P, Bonaventure J, Stoess H, Pontz BF, Emmrich P, Nerlich A. Type II collagenopathies: are there additional family members? Am J Med Genet. 1996 May 3;63(1):137-43.
60.) Sewell AC, Poets CF, Degen I, Stoss H, Pontz BF. The spectrum of free neuraminic acid storage disease in childhood: clinical, morphological and biochemical observations in three non-Finnish patients. Am J Med Genet. 1996 May 3;63(1):203-8.
61.) Pontz BF, Stoss H, Henschke F, Freisinger P, Karbowski A, Spranger J. Clinical and ultrastructural findings in three patients with geleophysic dysplasia. Am J Med Genet. 1996 May 3;63(1):50-4.
62.) Gerbitz KD, Gempel K, Brdiczka D. Mitochondria and diabetes. Genetic, biochemical, and clinical implications of the cellular energy circuit. Diabetes. 1996 Feb;45(2):113-26. Review.
63.) Jaksch M, Hofmann S, Gerbitz KD. Glucagon receptor gene mutation in NIDDM. Diabetologia. 1996 Feb;39(2):248.
64.) Jaksch M, Hofmann S, Kaufhold P, Obermaier-Kusser B, Zierz S, Gerbitz KD. A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus. Hum Mutat. 1996;7(4):358-60. PMID: 8723687; UI: 96303708