Literature DB >> 18787878

Genes associated with Parkinson syndrome.

Saskia Biskup1, Manfred Gerlach, Andreas Kupsch, Heinz Reichmann, Peter Riederer, Peter Vieregge, Ullrich Wüllner, Thomas Gasser.   

Abstract

Genetic findings have changed our views on Parkinson's disease (PD) and parkinsonism, which will be collectively referred to as Parkinsonian Syndrome (PS) in the present manuscript. Mutations in several genes are found to cause monogenic forms of the disorder. Point mutations, duplications and triplications in the alpha-synuclein gene cause a rare dominant form of PS in families. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been identified as a much more common cause for dominant PS, especially in certain ethnic groups, while mutations in the parkin gene, in DJ-1, PINK1 and ATP13A2 cause autosomal recessive parkinsonism of early onset. The monogenic variants are important tools in identifying cellular pathways that also shed light on the molecular pathogenesis of sporadic PS and some of these genes may play a role in the etiology of the common sporadic form of PS. Here we add recent findings to a greatly challenging puzzle.

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Year:  2008        PMID: 18787878     DOI: 10.1007/s00415-008-5005-2

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  96 in total

1.  Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease.

Authors:  M Martinez; A Brice; J R Vaughan; A Zimprich; M M B Breteler; G Meco; A Filla; M J Farrer; C Bétard; J Hardy; G De Michele; V Bonifati; B Oostra; T Gasser; N W Wood; A Dürr
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

2.  Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease.

Authors:  K K Chung; Y Zhang; K L Lim; Y Tanaka; H Huang; J Gao; C A Ross; V L Dawson; T M Dawson
Journal:  Nat Med       Date:  2001-10       Impact factor: 53.440

3.  Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

Authors:  Alfredo Ramirez; André Heimbach; Jan Gründemann; Barbara Stiller; Dan Hampshire; L Pablo Cid; Ingrid Goebel; Ammar F Mubaidin; Abdul-Latif Wriekat; Jochen Roeper; Amir Al-Din; Axel M Hillmer; Meliha Karsak; Birgit Liss; C Geoffrey Woods; Maria I Behrens; Christian Kubisch
Journal:  Nat Genet       Date:  2006-09-10       Impact factor: 38.330

4.  Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase.

Authors:  H Shimura; N Hattori; S i Kubo; Y Mizuno; S Asakawa; S Minoshima; N Shimizu; K Iwai; T Chiba; K Tanaka; T Suzuki
Journal:  Nat Genet       Date:  2000-07       Impact factor: 38.330

5.  PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study.

Authors:  Anita L DeStefano; Mark F Lew; Lawrence I Golbe; Margery H Mark; Alice M Lazzarini; Mark Guttman; Erwin Montgomery; Cheryl H Waters; Carlos Singer; Ray L Watts; Lillian J Currie; G Frederick Wooten; Nancy E Maher; Jemma B Wilk; Kristin M Sullivan; Karen M Slater; Marie H Saint-Hilaire; Robert G Feldman; Oksana Suchowersky; Anne-Louise Lafontaine; Nancy Labelle; John H Growdon; Peter Vieregge; Peter P Pramstaller; Christine Klein; Jean P Hubble; Carson R Reider; Mark Stacy; Marcy E MacDonald; James F Gusella; Richard H Myers
Journal:  Am J Hum Genet       Date:  2002-03-27       Impact factor: 11.025

6.  APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'.

Authors:  Andrew Latchford; Emmanouil Volikos; Victoria Johnson; Pauline Rogers; Nirosha Suraweera; Ian Tomlinson; Robin Phillips; Andrew Silver
Journal:  Hum Mol Genet       Date:  2006-11-29       Impact factor: 6.150

7.  Parkin enhances mitochondrial biogenesis in proliferating cells.

Authors:  Yukiko Kuroda; Takao Mitsui; Makoto Kunishige; Masayuki Shono; Masashi Akaike; Hiroyuki Azuma; Toshio Matsumoto
Journal:  Hum Mol Genet       Date:  2006-01-31       Impact factor: 6.150

8.  A MicroRNA feedback circuit in midbrain dopamine neurons.

Authors:  Jongpil Kim; Keiichi Inoue; Jennifer Ishii; William B Vanti; Sergey V Voronov; Elizabeth Murchison; Gregory Hannon; Asa Abeliovich
Journal:  Science       Date:  2007-08-31       Impact factor: 47.728

9.  Mitochondrial import and accumulation of alpha-synuclein impair complex I in human dopaminergic neuronal cultures and Parkinson disease brain.

Authors:  Latha Devi; Vijayendran Raghavendran; Badanavalu M Prabhu; Narayan G Avadhani; Hindupur K Anandatheerthavarada
Journal:  J Biol Chem       Date:  2008-02-01       Impact factor: 5.157

10.  The PINK1/Parkin pathway regulates mitochondrial morphology.

Authors:  Angela C Poole; Ruth E Thomas; Laurie A Andrews; Heidi M McBride; Alexander J Whitworth; Leo J Pallanck
Journal:  Proc Natl Acad Sci U S A       Date:  2008-01-29       Impact factor: 11.205

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  34 in total

Review 1.  Cell signaling and mitochondrial dynamics: Implications for neuronal function and neurodegenerative disease.

Authors:  Theodore J Wilson; Andrew M Slupe; Stefan Strack
Journal:  Neurobiol Dis       Date:  2012-01-24       Impact factor: 5.996

2.  Keap1-Nrf2 activation in the presence and absence of DJ-1.

Authors:  Li Gan; Delinda A Johnson; Jeffrey A Johnson
Journal:  Eur J Neurosci       Date:  2010-03-03       Impact factor: 3.386

3.  Engineered disulfide bonds restore chaperone-like function of DJ-1 mutants linked to familial Parkinson's disease.

Authors:  Todd Logan; Lindsay Clark; Soumya S Ray
Journal:  Biochemistry       Date:  2010-07-13       Impact factor: 3.162

Review 4.  Human stem cells and drug screening: opportunities and challenges.

Authors:  Allison D Ebert; Clive N Svendsen
Journal:  Nat Rev Drug Discov       Date:  2010-03-26       Impact factor: 84.694

5.  Motor and non-motor features of Parkinson's disease in LRRK2 G2019S carriers versus matched controls.

Authors:  Steven A Gunzler; David E Riley; Shu G Chen; Curtis M Tatsuoka; William M Johnson; John J Mieyal; Ellen M Walter; Christina M Whitney; I Jung Feng; Harry Owusu-Dapaah; Shivam O Mittal; Amy L Wilson-Delfosse
Journal:  J Neurol Sci       Date:  2018-03-17       Impact factor: 3.181

6.  LRRK2 and the stress response: interaction with MKKs and JNK-interacting proteins.

Authors:  C H Hsu; D Chan; B Wolozin
Journal:  Neurodegener Dis       Date:  2010-02-18       Impact factor: 2.977

7.  The G2019S pathogenic mutation disrupts sensitivity of leucine-rich repeat kinase 2 to manganese kinase inhibition.

Authors:  Jason P Covy; Benoit I Giasson
Journal:  J Neurochem       Date:  2010-08-19       Impact factor: 5.372

8.  DJ-1 deficient mice demonstrate similar vulnerability to pathogenic Ala53Thr human alpha-syn toxicity.

Authors:  Chenere P Ramsey; Elpida Tsika; Harry Ischiropoulos; Benoit I Giasson
Journal:  Hum Mol Genet       Date:  2010-01-20       Impact factor: 6.150

9.  Regulation of autophagy by LRRK2 in Caenorhabditis elegans.

Authors:  Shamol Saha; Liqun Liu-Yesucevitz; Benjamin Wolozin
Journal:  Neurodegener Dis       Date:  2013-10-31       Impact factor: 2.977

10.  Clinical profile of parkinsonism and Parkinson's disease in Lagos, Southwestern Nigeria.

Authors:  Njideka U Okubadejo; Oluwadamilola O Ojo; Olajumoke O Oshinaike
Journal:  BMC Neurol       Date:  2010-01-05       Impact factor: 2.474

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