Literature DB >> 19021753

Emerging pathways in genetic Parkinson's disease: autosomal-recessive genes in Parkinson's disease--a common pathway?

Julia C Fitzgerald1, Helene Plun-Favreau.   

Abstract

Rare, inherited mutations causing familial forms of Parkinson's disease have provided insight into the molecular mechanisms that underlie the genetic and sporadic forms of this disease. Loss of protein function resulting from autosomal-recessive mutations in PTEN-induced putative kinase 1 (PINK1), Parkin and DJ-1 has been linked to mitochondrial dysfunction, accumulation of abnormal and misfolded proteins, impaired protein clearance and oxidative stress. Accumulating evidence suggests that wild-type PINK1, Parkin and DJ-1 may be key components of neuroprotective signalling cascades that run in parallel, interact via cross talk or converge in a common pathway.

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Year:  2008        PMID: 19021753     DOI: 10.1111/j.1742-4658.2008.06708.x

Source DB:  PubMed          Journal:  FEBS J        ISSN: 1742-464X            Impact factor:   5.542


  23 in total

Review 1.  Early diagnosis and therapy of Parkinson's disease: can disease progression be curbed?

Authors:  Sagar Kansara; Akash Trivedi; Sheng Chen; Joseph Jankovic; Weidong Le
Journal:  J Neural Transm (Vienna)       Date:  2012-06-26       Impact factor: 3.575

2.  Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.

Authors:  Hilal Unal Gulsuner; Suleyman Gulsuner; Fatma Nazli Mercan; Onur Emre Onat; Tom Walsh; Hashem Shahin; Ming K Lee; Okan Dogu; Tulay Kansu; Haluk Topaloglu; Bulent Elibol; Cenk Akbostanci; Mary-Claire King; Tayfun Ozcelik; Ayse B Tekinay
Journal:  Proc Natl Acad Sci U S A       Date:  2014-11-24       Impact factor: 11.205

3.  L10p and P158DEL DJ-1 mutations cause protein instability, aggregation, and dimerization impairments.

Authors:  Chenere P Ramsey; Benoit I Giasson
Journal:  J Neurosci Res       Date:  2010-11-01       Impact factor: 4.164

Review 4.  Mitochondrial respiratory dysfunction and mutations in mitochondrial DNA in PINK1 familial parkinsonism.

Authors:  Sergio Papa; Anna Maria Sardanelli; Nazzareno Capitanio; Claudia Piccoli
Journal:  J Bioenerg Biomembr       Date:  2009-12       Impact factor: 2.945

5.  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

6.  Identification and characterization of a novel endogenous murine parkin mutation.

Authors:  Chenere P Ramsey; Benoit I Giasson
Journal:  J Neurochem       Date:  2010-01-20       Impact factor: 5.372

7.  Parkin selectively alters the intrinsic threshold for mitochondrial cytochrome c release.

Authors:  Alison K Berger; Giuseppe P Cortese; Katherine D Amodeo; Andreas Weihofen; Anthony Letai; Matthew J LaVoie
Journal:  Hum Mol Genet       Date:  2009-08-13       Impact factor: 6.150

8.  Phosphorylation of HtrA2 by cyclin-dependent kinase-5 is important for mitochondrial function.

Authors:  J C Fitzgerald; M D Camprubi; L Dunn; H-C Wu; N Y Ip; R Kruger; L M Martins; N W Wood; H Plun-Favreau
Journal:  Cell Death Differ       Date:  2011-06-24       Impact factor: 15.828

9.  A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis.

Authors:  Joshua M Baughman; Roland Nilsson; Vishal M Gohil; Daniel H Arlow; Zareen Gauhar; Vamsi K Mootha
Journal:  PLoS Genet       Date:  2009-08-14       Impact factor: 5.917

10.  Interaction map and selection of microRNA targets in Parkinson's disease-related genes.

Authors:  Shinde Santosh P; Neelima Arora; Pranjal Sarma; Manika Pal-Bhadra; Utpal Bhadra
Journal:  J Biomed Biotechnol       Date:  2009-11-08
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