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There are 26809 results for: content related to: PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum

  1. 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

  2. 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

  3. 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

  4. 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

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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

  6. 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

  7. 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

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    Quantitative expression proteomics and phosphoproteomics profile of brain from PINK1 knockout mice: insights into mechanisms of familial Parkinson's disease

    Journal of Neurochemistry

    Volume 133, Issue 5, June 2015, Pages: 750–765, Judy C. Triplett, Zhaoshu Zhang, Rukhsana Sultana, Jian Cai, Jon B. Klein, Hansruedi Büeler and David Allan Butterfield

    Version of Record online : 1 MAR 2015, DOI: 10.1111/jnc.13039

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    Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1

    Human Mutation

    Volume 32, Issue 4, April 2011, Pages: 369–378, Fernando Cardona, Jose Vicente Sánchez-Mut, Hernán Dopazo and Jordi Pérez-Tur

    Version of Record online : 15 MAR 2011, DOI: 10.1002/humu.21444

  10. 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

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    PINK1 is recruited to mitochondria with parkin and associates with LC3 in mitophagy

    FEBS Letters

    Volume 584, Issue 6, March 19, 2010, Pages: 1073–1079, Sumihiro Kawajiri, Shinji Saiki, Shigeto Sato, Fumiaki Sato, Taku Hatano, Hiroto Eguchi and Nobutaka Hattori

    Version of Record online : 12 FEB 2010, DOI: 10.1016/j.febslet.2010.02.016

  12. Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effect

    Human Mutation

    Volume 30, Issue 11, November 2009, Pages: 1551–1557, Eng-King Tan, F. Shaffra Refai, Mobin Siddique, Karen Yap, Patrick Ho, Stephanie Fook-Chong and Yi Zhao

    Version of Record online : 21 OCT 2009, DOI: 10.1002/humu.21108

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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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    Balance is the challenge – The impact of mitochondrial dynamics in Parkinson’s disease

    European Journal of Clinical Investigation

    Volume 40, Issue 11, November 2010, Pages: 1048–1060, Lena F. Burbulla, Guido Krebiehl and Rejko Krüger

    Version of Record online : 3 AUG 2010, DOI: 10.1111/j.1365-2362.2010.02354.x

  15. 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

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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

  17. You have full text access to this OnlineOpen article
    PINK1 and Parkin – mitochondrial interplay between phosphorylation and ubiquitylation in Parkinson's disease

    The FEBS Journal

    Volume 282, Issue 2, January 2015, Pages: 215–223, Agne Kazlauskaite and Miratul M. K. Muqit

    Version of Record online : 20 NOV 2014, DOI: 10.1111/febs.13127

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    Parkinson's disease-associated PINK1G309D mutation increases abnormal phosphorylation of Tau

    IUBMB Life

    Volume 67, Issue 4, April 2015, Pages: 286–290, Ming Ye, Dai Zhou, Youxin Zhou and Chunming Sun

    Version of Record online : 22 APR 2015, DOI: 10.1002/iub.1367

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    Beyond the mitochondrion: cytosolic PINK1 remodels dendrites through Protein Kinase A

    Journal of Neurochemistry

    Volume 128, Issue 6, March 2014, Pages: 864–877, Ruben K. Dagda, Irene Pien, Ruth Wang, Jianhui Zhu, Kent Z. Q. Wang, Jason Callio, Tania Das Banerjee, Raul Y. Dagda and Charleen T. Chu

    Version of Record online : 13 NOV 2013, DOI: 10.1111/jnc.12494

  20. 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