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There are 4044666 results for: content related to: Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene

  1. You have free access to this content
    Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA

    FEBS Letters

    Volume 579, Issue 30, December 19, 2005, Pages: 6909–6913, Ricardo Gonzalo, Elena Garcia-Arumi, David Llige, Ramon Marti, Abelardo Solano, Julio Montoya, Joaquín Arenas and Antonio L. Andreu

    Version of Record online : 1 DEC 2005, DOI: 10.1016/j.febslet.2005.11.034

  2. You have full text access to this OnlineOpen article
    New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders

    Annals of Clinical and Translational Neurology

    Volume 1, Issue 5, May 2014, Pages: 361–369, Natsumi Uehara, Masato Mori, Yoshimi Tokuzawa, Yosuke Mizuno, Shunsuke Tamaru, Masakazu Kohda, Yohsuke Moriyama, Yutaka Nakachi, Nana Matoba, Tetsuro Sakai, Taro Yamazaki, Hiroko Harashima, Kei Murayama, Keisuke Hattori, Jun-Ichi Hayashi, Takanori Yamagata, Yasunori Fujita, Masafumi Ito, Masashi Tanaka, Ken-ichi Nibu, Akira Ohtake and Yasushi Okazaki

    Version of Record online : 28 APR 2014, DOI: 10.1002/acn3.59

  3. Biochemical features of mtDNA 14484 (ND6/m64V) point mutation associated with Leber's hereditary optic neuropathy

    Annals of Neurology

    Volume 45, Issue 3, March 1999, Pages: 320–328, V. Carelli, A. Ghelli, L. Bucchi, P. Montagna, A. De Negri, V. Leuzzi, C. Carducci, G. Lenaz, E. Lugaresi and M. Degli Esposti

    Version of Record online : 31 MAY 2001, DOI: 10.1002/1531-8249(199903)45:3<320::AID-ANA7>3.0.CO;2-L

  4. Restoration of Mitochondrial Function in Cells with Complex I Deficiency

    Annals of the New York Academy of Sciences

    Volume 1042, Issue 1, May 2005, Pages: 25–35, YIDONG BAI, JEONG SOON PARK, JIAN-HONG DENG, YOUFEN LI and PEIQING HU

    Version of Record online : 9 JAN 2006, DOI: 10.1196/annals.1338.003

  5. You have free access to this content
    Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy

    The FEBS Journal

    Volume 272, Issue 5, March 2005, Pages: 1124–1135, Maura Floreani, Eleonora Napoli, Andrea Martinuzzi, Giorgia Pantano, Valentina De Riva, Roberta Trevisan, Elena Bisetto, Lucia Valente, Valerio Carelli and Federica Dabbeni-Sala

    Version of Record online : 17 FEB 2005, DOI: 10.1111/j.1742-4658.2004.04542.x

  6. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations

    American Journal of Medical Genetics

    Volume 104, Issue 4, 15 December 2001, Pages: 331–338, Michael D. Brown, Jon C. Allen, Gregory P. Van Stavern, Nancy J. Newman and Douglas C. Wallace

    Version of Record online : 27 NOV 2001, DOI: 10.1002/1096-8628(20011215)104:4<331::AID-AJMG10054>3.0.CO;2-W

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    The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme

    The EMBO Journal

    Volume 17, Issue 16, August 17, 1998, Pages: 4848–4858, Yidong Bai and Giuseppe Attardi

    Version of Record online : 17 AUG 1998, DOI: 10.1093/emboj/17.16.4848

  8. Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease

    Annals of Neurology

    Volume 44, Issue 2, August 1998, Pages: 177–186, M. Gu, J. M. Cooper, J. W. Taanman and Prof A. H. V. Schapira

    Version of Record online : 8 OCT 2004, DOI: 10.1002/ana.410440207

  9. Review and meta-analysis of natural selection in mitochondrial complex I in metazoans

    Journal of Zoological Systematics and Evolutionary Research

    Volume 53, Issue 1, February 2015, Pages: 1–17, Michael R. Garvin, Joseph P. Bielawski, Leonid A. Sazanov and Anthony J. Gharrett

    Version of Record online : 2 SEP 2014, DOI: 10.1111/jzs.12079

  10. You have free access to this content
    A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 1, 1 January 2007, Pages: 33–41, Emmanuelle Sarzi, Michael D. Brown, Sophie Lebon, Dominique Chretien, Arnold Munnich, Agnès Rotig and Vincent Procaccio

    Version of Record online : 6 DEC 2006, DOI: 10.1002/ajmg.a.31565

  11. Mitochondria in the etiology and pathogenesis of parkinson's disease

    Annals of Neurology

    Volume 44, Issue S1, September 1998, Pages: S89–S98, Prof A. H. V. Schapira, M. Gu, J.-W. Taanman, S. J. Tabrizi, T. Seaton, M. Cleeter and J. M. Cooper

    Version of Record online : 21 FEB 2014, DOI: 10.1002/ana.410440714

  12. The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy

    Annals of Neurology

    Volume 44, Issue 2, August 1998, Pages: 187–193, H. R. Cock, S. J. Tabrizi, J. M. Cooper and Dr. A. H. V. Schapira

    Version of Record online : 8 OCT 2004, DOI: 10.1002/ana.410440208

  13. An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells

    Human Mutation

    Volume 30, Issue 3, March 2009, Pages: 391–396, Giuseppe Gasparre, Luisa Iommarini, Anna Maria Porcelli, Martin Lang, Gian Gaetano Ferri, Ivana Kurelac, Roberta Zuntini, Elisa Mariani, Lucia Fiammetta Pennisi, Ernesto Pasquini, Gianandrea Pasquinelli, Anna Ghelli, Elena Bonora, Claudio Ceccarelli, Michela Rugolo, Nunzio Salfi, Giovanni Romeo and Valerio Carelli

    Version of Record online : 11 DEC 2008, DOI: 10.1002/humu.20870

  14. You have full text access to this OnlineOpen article
    Transmitochondrial embryonic stem cells containing pathogenic mtDNA mutations are compromised in neuronal differentiation

    Cell Proliferation

    Volume 42, Issue 4, August 2009, Pages: 413–424, D. M.  Kirby, K. J.  Rennie, T. K.  Smulders-Srinivasan, R.  Acin-Perez, M.  Whittington, J.-A.  Enriquez, A. J.  Trevelyan, D. M.  Turnbull and R. N.  Lightowlers

    Version of Record online : 23 JUN 2009, DOI: 10.1111/j.1365-2184.2009.00612.x

  15. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

    Annals of Neurology

    Volume 55, Issue 1, January 2004, Pages: 58–64, Robert McFarland, Denise M. Kirby, Kerry J. Fowler, Akira Ohtake, Michael T. Ryan, David J. Amor, Janice M. Fletcher, Joanne W. Dixon, Felicity A. Collins, Douglass M. Turnbull, Robert W. Taylor and David R. Thorburn

    Version of Record online : 1 DEC 2003, DOI: 10.1002/ana.10787

  16. You have full text access to this OnlineOpen article
    Development of pharmacological strategies for mitochondrial disorders

    British Journal of Pharmacology

    Volume 171, Issue 8, April 2014, Pages: 1798–1817, M Kanabus, S J Heales and S Rahman

    Version of Record online : 28 MAR 2014, DOI: 10.1111/bph.12456

  17. Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy

    Annals of Neurology

    Volume 52, Issue 5, November 2002, Pages: 534–542, John Guy, Xiaoping Qi, Francesco Pallotti, Eric A. Schon, Giovanni Manfredi, Valerio Carelli, Andrea Martinuzzi, William W. Hauswirth and Alfred S. Lewin

    Version of Record online : 11 OCT 2002, DOI: 10.1002/ana.10354

  18. New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy

    Clinical & Experimental Ophthalmology

    Volume 42, Issue 9, December 2014, Pages: 856–864, Íñigo Martínez-Romero, M Dolores Herrero-Martín, Laura Llobet, Sonia Emperador, Antonio Martín-Navarro, Bernat Narberhaus, Francisco J Ascaso, Ester López-Gallardo, Julio Montoya and Eduardo Ruiz-Pesini

    Version of Record online : 30 MAY 2014, DOI: 10.1111/ceo.12355

  19. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease

    Annals of Neurology

    Volume 54, Issue 4, October 2003, Pages: 473–478, Denise M. Kirby, Avihu Boneh, C. W. Chow, Akira Ohtake, Michael T. Ryan, Dominic Thyagarajan and David R. Thorburn

    Version of Record online : 11 AUG 2003, DOI: 10.1002/ana.10687

  20. Mitochondria in cybrids containing mtDNA from persons with mitochondriopathies

    Journal of Neuroscience Research

    Volume 85, Issue 15, 15 November 2007, Pages: 3416–3428, Russell H. Swerdlow

    Version of Record online : 22 JAN 2007, DOI: 10.1002/jnr.21167