Literature DB >> 14638971

Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism.

P Ibáñez1, G De Michele, V Bonifati, E Lohmann, S Thobois, P Pollak, Y Agid, P Heutink, A Dürr, A Brice.   

Abstract

The DJ-1 gene was identified as responsible for early onset autosomal recessive parkinsonism in two families (PARK7). In this study, after excluding mutations in the parkin gene, the authors screened a large series of early onset autosomal recessive parkinsonism families and consanguineous isolated patients of diverse geographic origins for DJ-1 mutations. No mutations were found. This indicates that PARK7 is not a common locus for early onset autosomal recessive parkinsonism, and that one or more new loci remains to be identified.

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Year:  2003        PMID: 14638971     DOI: 10.1212/01.wnl.0000094121.48373.fd

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  9 in total

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2.  Mutations in DJ-1 are rare in familial Parkinson disease.

Authors:  Nathan Pankratz; Michael W Pauciulo; Veronika E Elsaesser; Diane K Marek; Cheryl A Halter; Joanne Wojcieszek; Alice Rudolph; Clifford W Shults; Tatiana Foroud; William C Nichols
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3.  Phenylbutyrate up-regulates the DJ-1 protein and protects neurons in cell culture and in animal models of Parkinson disease.

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4.  Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.

Authors:  Corinne Lautier; Stefano Goldwurm; Alexandra Dürr; Barbara Giovannone; William G Tsiaras; Gianni Pezzoli; Alexis Brice; Robert J Smith
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Authors:  Stacey E Seidl; Judith A Potashkin
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Review 6.  Parkinson's disease as a result of aging.

Authors:  Manuel Rodriguez; Clara Rodriguez-Sabate; Ingrid Morales; Alberto Sanchez; Magdalena Sabate
Journal:  Aging Cell       Date:  2015-02-09       Impact factor: 9.304

Review 7.  The degeneration and replacement of dopamine cells in Parkinson's disease: the role of aging.

Authors:  Manuel Rodriguez; Ingrid Morales; Clara Rodriguez-Sabate; Alberto Sanchez; Rafael Castro; Jose Miguel Brito; Magdalena Sabate
Journal:  Front Neuroanat       Date:  2014-08-07       Impact factor: 3.856

8.  Running wheel exercise reduces α-synuclein aggregation and improves motor and cognitive function in a transgenic mouse model of Parkinson's disease.

Authors:  Wenbo Zhou; Jessica Cummiskey Barkow; Curt R Freed
Journal:  PLoS One       Date:  2017-12-22       Impact factor: 3.240

9.  Genetic insights into sporadic Parkinson's disease pathogenesis.

Authors:  Chou Chai; Kah-Leong Lim
Journal:  Curr Genomics       Date:  2013-12       Impact factor: 2.236

  9 in total

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