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Papers authored by Jaksch M

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Generation of hepatocyte-like cells from in vitro transdifferentiated human fetal pancreas.

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Sumitran-Holgersson S, Nowak G, Thowfeequ S, Begum S, Joshi M, Jaksch M, Kjaeldgaard A, Jorns C, Ericzon BG, and Tosh D

Cell transplantation 18(2):183-93, 2009 - Who cited this? | PubMed ID: 19499706 | Fulltext

Evidence for no relevance of anti-major histocompatibility complex class i-related chain a antibodies in liver transplantation.

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Uzunel M, Kasimu H, Joshi M, Ge X, Liu J, Xu B, Jaksch M, Jorns C, Nowak G, and Sumitran-Holgersson S

Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society 14(12):1793-802, 2008 Dec - Who cited this? | PubMed ID: 19025915 | Fulltext

Cell cycle-dependent variation of a CD133 epitope in human embryonic stem cell, colon cancer, and melanoma cell lines.

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Jaksch M, Múnera J, Bajpai R, Terskikh A, and Oshima RG

Cancer research 68(19):7882-6, 2008 Oct 1 - Who cited this? | PubMed ID: 18829544 | Fulltext

Biliary epithelial cell antibodies link adaptive and innate immune responses in primary sclerosing cholangitis.

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Karrar A, Broomé U, Södergren T, Jaksch M, Bergquist A, Björnstedt M, and Sumitran-Holgersson S

Gastroenterology 132(4):1504-14, 2007 Apr - Who cited this? | PubMed ID: 17408653 | Fulltext

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.

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Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Böhles H, Fötschl U, Koch J, Jaksch M, Lochmüller H, Horváth R, Freisinger P, and Sperl W

American journal of human genetics 80(3):478-84, 2007 Mar - Who cited this? | PubMed ID: 17273968 | Fulltext

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA).

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Horváth R, Abicht A, Holinski-Feder E, Laner A, Gempel K, Prokisch H, Lochmüller H, Klopstock T, and Jaksch M

Journal of neurology, neurosurgery, and psychiatry 77(1):74-6, 2006 Jan - Who cited this? | PubMed ID: 16361598 | Fulltext

Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy.

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Horváth R, Schoser BG, Müller-Höcker J, Völpel M, Jaksch M, and Lochmüller H

Neuromuscular disorders : NMD 15(12):851-7, 2005 Dec - Who cited this? | PubMed ID: 16288875 | Fulltext

Identification of expandable human hepatic progenitors which differentiate into mature hepatic cells in vivo.

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Nowak G, Ericzon BG, Nava S, Jaksch M, Westgren M, and Sumitran-Holgersson S

Gut 54(7):972-9, 2005 Jul - Who cited this? | PubMed ID: 15951545 | Fulltext

Molecular monitoring of T-cell chimerism early after allogeneic stem cell transplantation may predict the occurrence of acute GVHD grades II-IV.

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Jaksch M, Uzunel M, Remberger M, Sundberg B, and Mattsson J

Clinical transplantation 19(3):346-9, 2005 Jun - Who cited this? | PubMed ID: 15877796 | Fulltext

Characterization of cells in the developing human liver.

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Nava S, Westgren M, Jaksch M, Tibell A, Broomé U, Ericzon BG, and Sumitran-Holgersson S

Differentiation; research in biological diversity 73(5):249-60, 2005 Jun - Who cited this? | PubMed ID: 16026547 | Fulltext

The pathophysiology of acute graft-versus-host disease.

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Jaksch M and Mattsson J

Scandinavian journal of immunology 61(5):398-409, 2005 May - Who cited this? | PubMed ID: 15882431 | Fulltext

Increased gene expression of chemokine receptors is correlated with acute graft-versus-host disease after allogeneic stem cell transplantation.

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Jaksch M, Remberger M, and Mattsson J

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 11(4):280-7, 2005 Apr - Who cited this? | PubMed ID: 15812393 | Fulltext

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

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Horváth R, Freisinger P, Rubio R, Merl T, Bax R, Mayr JA, Shawan, Müller-Höcker J, Pongratz D, Moller LB, Horn N, and Jaksch M

Journal of inherited metabolic disease 28(4):479-92, 2005 - Who cited this? | PubMed ID: 15902551 | Fulltext

A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations.

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Möllers M, Maniura-Weber K, Kiseljakovic E, Bust M, Hayrapetyan A, Jaksch M, Helm M, Wiesner RJ, and von Kleist-Retzow JC

Nucleic acids research 33(17):5647-58, 2005 - Who cited this? | PubMed ID: 16199753 | Fulltext

Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.

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Leary SC, Kaufman BA, Pellecchia G, Guercin GH, Mattman A, Jaksch M, and Shoubridge EA

Human molecular genetics 13(17):1839, 2004 Sep 1 - Who cited this? | PubMed ID: 15229189 | Fulltext

Two families with autosomal dominant progressive external ophthalmoplegia.

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Kiechl S, Horváth R, Luoma P, Kiechl-Kohlendorfer U, Wallacher-Scholz B, Stucka R, Thaler C, Wanschitz J, Suomalainen A, Jaksch M, and Willeit J

Journal of neurology, neurosurgery, and psychiatry 75(8):1125-8, 2004 Aug - Who cited this? | PubMed ID: 15258213 | Fulltext

Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.

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Horváth R, Lochmüller H, Hoeltzenbein M, Müller-Höcker J, Schoser BG, Pongratz D, and Jaksch M

Journal of medical genetics 41(6):e75, 2004 Jun - Who cited this? | PubMed ID: 15173241 | Fulltext

Increased immune transcript levels are correlated with acute graft-versus-host disease and cytomegalovirus response after allogeneic stem cell transplantation.

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Jaksch M, Remberger M, and Mattsson J

Transplantation 77(2):195-200, 2004 Jan 27 - Who cited this? | PubMed ID: 14742980 | Fulltext

Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?.

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Freisinger P, Horvath R, Macmillan C, Peters J, and Jaksch M

Journal of inherited metabolic disease 27(1):67-79, 2004 - Who cited this? | PubMed ID: 14970747 | Fulltext

Risk of developing a mitochondrial DNA deletion disorder.

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Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA,

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Lancet 364(9434):592-6, 2004 - Who cited this? | PubMed ID: 15313359 | Fulltext

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.

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Antonicka H, Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG, Harding CO, Jaksch M, and Shoubridge EA

Human molecular genetics 12(20):2693-702, 2003 Oct 15 - Who cited this? | PubMed ID: 12928484 | Fulltext

Kearns-Sayre syndrome, abnormal corneal endothelium and normal tension glaucoma.

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Zarnowski T, Jaksch M, Rejdak R, and Zagórski Z

Acta ophthalmologica Scandinavica 81(5):543-5, 2003 Oct - Who cited this? | PubMed ID: 14510810 | Fulltext

A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy.

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Horváth R, Lochmüller H, Scharfe C, Do BH, Oefner PJ, Müller-Höcker J, Schoser BG, Pongratz D, Auer DP, and Jaksch M

Journal of medical genetics 40(10):752-7, 2003 Oct - Who cited this? | PubMed ID: 14569122 | Fulltext

Minimal residual disease detection after allogeneic stem cell transplantation is correlated to relapse in patients with acute lymphoblastic leukaemia.

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Uzunel M, Jaksch M, Mattsson J, and Ringdén O

British journal of haematology 122(5):788-94, 2003 Sep - Who cited this? | PubMed ID: 12930390 | Fulltext

Serum levels of cytokines correlate to donor chimerism and acute graft-vs.-host disease after haematopoietic stem cell transplantation.

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Remberger M, Jaksch M, Uzunel M, and Mattsson J

European journal of haematology 70(6):384-91, 2003 Jun - Who cited this? | PubMed ID: 12756021 | Fulltext

Increased levels of immune transcript in patients with acute GVHD after allogeneic stem cell transplantation.

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Jaksch M, Uzunel M, Martinez Cangana G, Remberger M, and Mattsson J

Bone marrow transplantation 31(3):183-90, 2003 Feb - Who cited this? | PubMed ID: 12621479 | Fulltext

Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.

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Horváth R, Scharfe C, Hoeltzenbein M, Do BH, Schröder C, Warzok R, Vogelgesang S, Lochmüller H, Müller-Höcker J, Gerbitz KD, Oefner PJ, and Jaksch M

Journal of medical genetics 39(11):812-6, 2002 Nov - Who cited this? | PubMed ID: 12414820 | Fulltext

A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA.

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Taanman JW, Kateeb I, Muntau AC, Jaksch M, Cohen N, and Mandel H

Annals of neurology 52(2):237-9, 2002 Aug - Who cited this? | PubMed ID: 12210798 | Fulltext

Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis.

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Müller-Höcker J, Muntau A, Schäfer S, Jaksch M, Staudt F, Pongratz D, and Taanman JW

Human pathology 33(2):247-53, 2002 Feb - Who cited this? | PubMed ID: 11957153 | Fulltext

Myofibrillar (desmin-related) myopathy: clinico-pathological spectrum in 3 cases and review of the literature.

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Wanschit J, Nakano S, Goudeau B, Ströbel T, Rinner W, Wimmer G, Resch H, Jaksch M, Akiguchi I, Vicart P, and Budka H

Clinical neuropathology 21(5):220-31, 2002 - Who cited this? | PubMed ID: 12365725 | Fulltext

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.

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Jaksch M, Paret C, Stucka R, Horn N, Müller-Höcker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, and Lochmüller H

Human molecular genetics 10(26):3025-35, 2001 Dec 15 - Who cited this? | PubMed ID: 11751685 | Fulltext

A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract.

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Jaksch M, Lochmuller H, Schmitt F, Volpel B, Obermaier-Kusser B, and Horvath R

Neurology 57(10):1930-1, 2001 Nov 27 - Who cited this? | PubMed ID: 11723298 | Fulltext

Valproic acid triggers acute rhabdomyolysis in a patient with carnitine palmitoyltransferase type II deficiency.

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Kottlors M, Jaksch M, Ketelsen UP, Weiner S, Glocker FX, and Lücking CH

Neuromuscular disorders : NMD 11(8):757-9, 2001 Nov - Who cited this? | PubMed ID: 11595519 | Fulltext

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

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Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, and Freisinger P

Neurology 57(8):1440-6, 2001 Oct 23 - Who cited this? | PubMed ID: 11673586 | Fulltext

Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.

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Jaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Müller-Höcker J, Gerbitz KD, Liechti-Gallati S, Lochmuller H, and Horvath R

Journal of medical genetics 38(10):665-73, 2001 Oct - Who cited this? | PubMed ID: 11584044 | Fulltext

The significance of graft-versus-host disease and pretransplantation minimal residual disease status to outcome after allogeneic stem cell transplantation in patients with acute lymphoblastic leukemia.

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Uzunel M, Mattsson J, Jaksch M, Remberger M, and Ringdén O

Blood 98(6):1982-4, 2001 Sep 15 - Who cited this? | PubMed ID: 11535539 | Fulltext

Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle.

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Thirion C, Stucka R, Mendel B, Gruhler A, Jaksch M, Nowak KJ, Binz N, Laing NG, and Lochmüller H

European journal of biochemistry / FEBS 268(12):3473-82, 2001 Jun - Who cited this? | PubMed ID: 11422377 | Fulltext

Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.

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Hutchin TP, Navarro-Coy NC, Van Camp G, Tiranti V, Zeviani M, Schuelke M, Jaksch M, Newton V, and Mueller RF

European journal of human genetics : EJHG 9(5):385-7, 2001 May - Who cited this? | PubMed ID: 11378827 | Fulltext

Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy.

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Finsterer J, Stöllberger C, Kopsa W, and Jaksch M

The Canadian journal of cardiology 17(4):464-6, 2001 Apr - Who cited this? | PubMed ID: 11329546 | Fulltext

Nail-patella syndrome associated with respiratory chain disorder.

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Finsterer J, Stöllberger C, Wanschitz J, Jaksch M, and Budka H

European neurology 46(2):92-5, 2001 - Who cited this? | PubMed ID: 11528158 | Fulltext

Interaction of the G protein beta 3 subunit T825 allele and the IRS-1 Arg972 variant in type 2 diabetes.

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Rosskopf D, Frey U, Eckhardt S, Schmidt S, Ritz E, Hofmann S, Jaksch M, Müller N, Hüsing J, Siffert W, and Jöcke KH

European journal of medical research 5(11):484-90, 2000 Nov 30 - Who cited this? | PubMed ID: 11121369 | Fulltext

Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.

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Horvath R, Lochmüller H, Stucka R, Yao J, Shoubridge EA, Kim SH, Gerbitz KD, and Jaksch M

Biochemical and biophysical research communications 276(2):530-3, 2000 Sep 24 - Who cited this? | PubMed ID: 11027508 | Fulltext

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.

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Scharfe C, Hauschild M, Klopstock T, Janssen AJ, Heidemann PH, Meitinger T, and Jaksch M

Journal of medical genetics 37(9):669-73, 2000 Sep - Who cited this? | PubMed ID: 10978358 | Fulltext

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.

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Jaksch M, Ogilvie I, Yao J, Kortenhaus G, Bresser HG, Gerbitz KD, and Shoubridge EA

Human molecular genetics 9(5):795-801, 2000 Mar 22 - Who cited this? | PubMed ID: 10749987 | Fulltext

MITOP, the mitochondrial proteome database: 2000 update.

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Scharfe C, Zaccaria P, Hoertnagel K, Jaksch M, Klopstock T, Dembowski M, Lill R, Prokisch H, Gerbitz KD, Neupert W, Mewes HW, and Meitinger T

Nucleic acids research 28(1):155-8, 2000 Jan 1 - Who cited this? | PubMed ID: 10592209 | Fulltext

Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry.

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Gempel K, Kottlors M, Jaksch M, Gerbitz KD, and Bauer MF

Journal of inherited metabolic disease 22(8):941-2, 1999 Dec - Who cited this? | PubMed ID: 10604150 | Fulltext

Age and cause of death in mitochondrial diseases.

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Klopstock T, Jaksch M, and Gasser T

Neurology 53(4):855-7, 1999 Sep 11 - Who cited this? | PubMed ID: 10489054 | Fulltext

Mitochondrial disorders. A diagnostic challenge in clinical chemistry.

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Bauer MF, Gempel K, Hofmann S, Jaksch M, Philbrook C, and Gerbitz KD

Clinical chemistry and laboratory medicine : CCLM / FESCC 37(9):855-76, 1999 Sep - Who cited this? | PubMed ID: 10596952 | Fulltext

Different clinical aspects of debrancher deficiency myopathy.

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Kiechl S, Kohlendorfer U, Thaler C, Skladal D, Jaksch M, Obermaier-Kusser B, and Willeit J

Journal of neurology, neurosurgery, and psychiatry 67(3):364-8, 1999 Sep - Who cited this? | PubMed ID: 10449560 | Fulltext

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.

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Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff L, Gerbitz KD, Comi GP, Uziel G, Zeviani M, and Meitinger T

Annals of neurology 46(2):161-6, 1999 Aug - Who cited this? | PubMed ID: 10443880 | Fulltext

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