Journal ArticleDOI
Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
Vincenzo Bonifati,Vincenzo Bonifati,Patrizia Rizzu,Marijke J. van Baren,Onno Schaap,Guido J. Breedveld,Elmar Krieger,Marieke C. J. Dekker,Ferdinando Squitieri,Pablo Ibanez,Marijke Joosse,Jeroen W.F. van Dongen,Nicola Vanacore,Nicola Vanacore,John C. van Swieten,Alexis Brice,Giuseppe Meco,Cornelia M. van Duijn,Ben A. Oostra,Peter Heutink +19 more
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TLDR
It is shown that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism, and these findings indicate that loss ofDJ-1 function leads to neurodegeneration.Abstract:
The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism. The function of the DJ-1 protein remains unknown, but evidence suggests its involvement in the oxidative stress response. Our findings indicate that loss of DJ-1 function leads to neurodegeneration. Elucidating the physiological role of DJ-1 protein may promote understanding of the mechanisms of brain neuronal maintenance and pathogenesis of Parkinson's disease.read more
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Mitochondria as a Therapeutic Target for Aging and Neurodegenerative Diseases
P. H. Reddy,Tejaswini P. Reddy +1 more
TL;DR: Research is discusses research that elucidates features of mitochondria that are associated with cellular dysfunction in aging and neurodegenerative diseases and discusses mitochondrial structural and functional changes, and abnormal mitochondrial dynamics in neurodegnerative diseases.
Journal ArticleDOI
Cerebrospinal fluid biomarkers in Parkinson disease.
Lucilla Parnetti,Anna Castrioto,Davide Chiasserini,Emanuele Persichetti,Nicola Tambasco,Omar M. A. El-Agnaf,Paolo Calabresi +6 more
TL;DR: Evidence from numerous studies that have focused on identification of candidate CSF biomarkers for Parkinson disease support the usefulness of a combination of various CSf biomarkers of PD to increase diagnostic accuracy during early phases of the disease, and to differentiate PD from other neurodegenerative disorders.
Journal ArticleDOI
Phenotypic characterization of recessive gene knockout rat models of Parkinson's disease
Kuldip D. Dave,Shehan N. De Silva,Niketa P. Sheth,Sylvie Ramboz,Melissa J. Beck,Changyu Quang,Robert Switzer,Syed Omar Ahmad,Susan M. Sunkin,Dan Walker,Xiaoxia Cui,Daniel A. Fisher,Aaron McCoy,Kevin M. Gamber,Xiaodong Ding,Matthew S. Goldberg,Stanley A. Benkovic,Meredith Haupt,Marco A. S. Baptista,Brian K. Fiske,Todd Sherer,Mark Frasier +21 more
TL;DR: It is demonstrated that inactivation of the Pink1 or DJ-1 genes in the rat produces progressive neurodegeneration and early behavioral deficits, suggesting that these recessive genes may be essential for the survival of dopaminergic neurons in the substantia nigra (SN).
Journal ArticleDOI
Progress in Parkinson's disease-where do we stand?
TL;DR: The current knowledge of Parkinson's disease including its etiology, some of the current symptomatic therapeutic modalities, and recent progress in neuroprotective and cell replacement therapies are reviewed.
Journal ArticleDOI
Analysis of the PINK1 Gene in a Large Cohort of Cases With Parkinson Disease
Ekaterina Rogaeva,Janel O. Johnson,Anthony E. Lang,Cindy Gulick,Katrina Gwinn-Hardy,Toshitaka Kawarai,Christine Sato,Angharad R. Morgan,John S. Werner,Robert L. Nussbaum,Agnes Petit,Michael S. Okun,Aideen McInerney,Ronald J. Mandel,Justus L. Groen,Hubert H. Fernandez,Ronald B. Postuma,Kelly D. Foote,Shabnam Salehi-Rad,Yan Liang,Sharon Reimsnider,Anurag Tandon,John Hardy,Peter St George-Hyslop,Andrew B. Singleton +24 more
TL;DR: Autosomal recessive mutations in PINK1 are a rare cause of young-onset Parkinson disease, including the first reported compound heterozygous mutation (Glu240Lys and Leu489Pro) and a homozygous Leu347Pro mutation in 2 unrelated young-ONSET Parkinson disease patients.
References
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