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There are 1769899 results for: content related to: Familial Parkinsonism with digenic parkin and PINK1 mutations

  1. Evidence for a common biological pathway linking three Parkinson's disease-causing genes: parkin, PINK1 and DJ-1

    European Journal of Neuroscience

    Volume 41, Issue 9, May 2015, Pages: 1113–1125, Celia van der Merwe, Zahra Jalali Sefid Dashti, Alan Christoffels, Ben Loos and Soraya Bardien

    Version of Record online : 11 MAR 2015, DOI: 10.1111/ejn.12872

  2. You have full text access to this OnlineOpen article
    Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function

    EMBO Molecular Medicine

    Volume 1, Issue 2, May 2009, Pages: 99–111, Vanessa A. Morais, Patrik Verstreken, Anne Roethig, Joél Smet, An Snellinx, Mieke Vanbrabant, Dominik Haddad, Christian Frezza, Wim Mandemakers, Daniela Vogt-Weisenhorn, Rudy Van Coster, Wolfgang Wurst, Luca Scorrano and Bart De Strooper

    Version of Record online : 21 APR 2009, DOI: 10.1002/emmm.200900006

  3. PINK1 phosphorylates transglutaminase 2 and blocks its proteasomal degradation

    Journal of Neuroscience Research

    Volume 93, Issue 5, May 2015, Pages: 722–735, Boram Min, Young-Chang Kwon, Kwang-Min Choe and Kwang Chul Chung

    Version of Record online : 29 DEC 2014, DOI: 10.1002/jnr.23535

  4. Impaired dopaminergic neuron development and locomotor function in zebrafish with loss of pink1 function

    European Journal of Neuroscience

    Volume 31, Issue 4, February 2010, Pages: 623–633, Yanwei Xi, Joel Ryan, Sandra Noble, Man Yu, Ayse E. Yilbas and Marc Ekker

    Version of Record online : 5 FEB 2010, DOI: 10.1111/j.1460-9568.2010.07091.x

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    Biochemical aspects of the neuroprotective mechanism of PTEN-induced kinase-1 (PINK1)

    Journal of Neurochemistry

    Volume 105, Issue 1, April 2008, Pages: 18–33, Ryan D. Mills, Chou Hung Sim, Su San Mok, Terrence D. Mulhern, Janetta G. Culvenor and Heung-Chin Cheng

    Version of Record online : 22 JAN 2008, DOI: 10.1111/j.1471-4159.2008.05249.x

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    Mitochondrial dysfunction in Parkinson's disease: molecular mechanisms and pathophysiological consequences

    The EMBO Journal

    Volume 31, Issue 14, July 18, 2012, Pages: 3038–3062, Nicole Exner, Anne Kathrin Lutz, Christian Haass and Konstanze F Winklhofer

    Version of Record online : 26 JUN 2012, DOI: 10.1038/emboj.2012.170

  7. Evidence for early and progressive ultrasonic vocalization and oromotor deficits in a PINK1 gene knockout rat model of Parkinson's disease

    Journal of Neuroscience Research

    Volume 93, Issue 11, November 2015, Pages: 1713–1727, Laura M. Grant, Cynthia A. Kelm-Nelson, Breanna L. Hilby, Katherine V. Blue, Eunice S. Paul Rajamanickam, Joshua D. Pultorak, Shelia M. Fleming and Michelle R. Ciucci

    Version of Record online : 31 JUL 2015, DOI: 10.1002/jnr.23625

  8. You have full text access to this OnlineOpen article
    PINK1 function in health and disease

    EMBO Molecular Medicine

    Volume 1, Issue 3, June 2009, Pages: 152–165, Emma Deas, Helene Plun-Favreau and Nicholas W. Wood

    Version of Record online : 12 JUN 2009, DOI: 10.1002/emmm.200900024

  9. You have full text access to this OnlineOpen article
    Unravelling mitochondrial pathways to Parkinson's disease

    British Journal of Pharmacology

    Volume 171, Issue 8, April 2014, Pages: 1943–1957, I Celardo, L M Martins and S Gandhi

    Version of Record online : 28 MAR 2014, DOI: 10.1111/bph.12433

  10. You have full text access to this OnlineOpen article
    TigarB causes mitochondrial dysfunction and neuronal loss in PINK1 deficiency

    Annals of Neurology

    Volume 74, Issue 6, December 2013, Pages: 837–847, Laura J. Flinn, Marcus Keatinge, Sandrine Bretaud, Heather Mortiboys, Hideaki Matsui, Elena De Felice, Helen I. Woodroof, Lucy Brown, Aimee McTighe, Rosemarie Soellner, Claire E. Allen, Paul R. Heath, Marta Milo, Miratul M. K. Muqit, Andreas S. Reichert, Reinhard W. Köster, Philip W. Ingham and Oliver Bandmann

    Version of Record online : 21 JAN 2014, DOI: 10.1002/ana.23999

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    Poster Presentations

    Movement Disorders

    Volume 27, Issue S1, June 2012, Pages: S1–S523,

    Version of Record online : 19 JUN 2012, DOI: 10.1002/mds.25051

  12. Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1)

    Human Mutation

    Volume 33, Issue 10, October 2012, Pages: 1408–1422, Chou Hung Sim, Kipros Gabriel, Ryan D. Mills, Janetta G. Culvenor and Heung-Chin Cheng

    Version of Record online : 5 JUL 2012, DOI: 10.1002/humu.22127

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    The Parkinson's disease-associated gene PINK1 protects neurons from ischemic damage by decreasing mitochondrial translocation of the fission promoter Drp1

    Journal of Neurochemistry

    Volume 127, Issue 5, December 2013, Pages: 711–722, Yanxin Zhao, Fangzhe Chen, Shufen Chen, Xueyuan Liu, Mei Cui and Qiang Dong

    Version of Record online : 30 JUN 2013, DOI: 10.1111/jnc.12340

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    Absence of nigral degeneration in aged parkin/DJ-1/PINK1 triple knockout mice

    Journal of Neurochemistry

    Volume 111, Issue 3, November 2009, Pages: 696–702, Tohru Kitada, Youren Tong, Clement A. Gautier and Jie Shen

    Version of Record online : 19 AUG 2009, DOI: 10.1111/j.1471-4159.2009.06350.x

  15. PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity

    Movement Disorders

    Volume 29, Issue 1, January 2014, Pages: 41–53, Graziella Madeo, Tommaso Schirinzi, Giuseppina Martella, E. Claudio Latagliata, Francesca Puglisi, Jie Shen, Enza Maria Valente, Mauro Federici, Nicola B. Mercuri, Stefano Puglisi-Allegra, Paola Bonsi and Antonio Pisani

    Version of Record online : 25 OCT 2013, DOI: 10.1002/mds.25724

  16. You have full text access to this OnlineOpen article
    Phosphoproteomic screening identifies Rab GTPases as novel downstream targets of PINK1

    The EMBO Journal

    Volume 34, Issue 22, 12 November 2015, Pages: 2840–2861, Yu-Chiang Lai, Chandana Kondapalli, Ronny Lehneck, James B Procter, Brian D Dill, Helen I Woodroof, Robert Gourlay, Mark Peggie, Thomas J Macartney, Olga Corti, Jean-Christophe Corvol, David G Campbell, Aymelt Itzen, Matthias Trost and Miratul MK Muqit

    Version of Record online : 16 OCT 2015, DOI: 10.15252/embj.201591593

  17. You have full text access to this OnlineOpen article
    Ret rescues mitochondrial morphology and muscle degeneration of Drosophila Pink1 mutants

    The EMBO Journal

    Volume 33, Issue 4, 18 February 2014, Pages: 341–355, Pontus Klein, Anne Kathrin Müller-Rischart, Elisa Motori, Cornelia Schönbauer, Frank Schnorrer, Konstanze F Winklhofer and Rüdiger Klein

    Version of Record online : 29 JAN 2014, DOI: 10.1002/embj.201284290

  18. Parkinson's Disease: Genetics and Pathogenesis

    Standard Article

    Handbook of Contemporary Neuropharmacology

    Claudia M. Testa

    Published Online : 2 MAR 2007, DOI: 10.1002/9780470101001.hcn063

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    Zebrafish Parla- and Parlb-deficiency affects dopaminergic neuron patterning and embryonic survival

    Journal of Neurochemistry

    Volume 122, Issue 1, July 2012, Pages: 196–207, Sandra Noble, Abid Ismail, Rafael Godoy, Yanwei Xi and Marc Ekker

    Version of Record online : 9 MAY 2012, DOI: 10.1111/j.1471-4159.2012.07758.x

  20. Systematic Review and UK-Based Study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease

    Movement Disorders

    Volume 27, Issue 12, October 2012, Pages: 1522–1529, Laura L. Kilarski, Justin P. Pearson, Victoria Newsway, Elisa Majounie, M. Duleeka W. Knipe, Anjum Misbahuddin, Patrick F. Chinnery, David J. Burn, Carl E. Clarke, Marie-Helene Marion, Alistair J. Lewthwaite, David J. Nicholl, Nicholas W. Wood, Karen E. Morrison, Caroline H. Williams-Gray, Jonathan R. Evans, Stephen J. Sawcer, Roger A. Barker, Mirdhu M. Wickremaratchi, Yoav Ben-Shlomo, Nigel M. Williams and Huw R. Morris

    Version of Record online : 6 SEP 2012, DOI: 10.1002/mds.25132