نتایج جستجو برای: dj1

تعداد نتایج: 54  

Journal: :Parkinsonism & related disorders 2013
Andreas Puschmann

Mutations in seven genes are robustly associated with autosomal dominant (SNCA, LRRK2, EIF4G1, VPS35) or recessive (parkin/PARK2, PINK1, DJ1/PARK7) Parkinson's disease (PD) or parkinsonism. Changes in a long list of additional genes have been suggested as causes for parkinsonism or PD, including genes for hereditary ataxias (ATXN2, ATXN3, FMR1), frontotemporal dementia (C9ORF72, GRN, MAPT, TARD...

2017
Johannes Meiser Alexei Vazquez Karsten Hiller

DJ-1 (PARK7) was first identified as an oncogene that represses PTEN and thus induces proliferation in certain types of cancer [1]. Later, it was found that loss of DJ-1 leads to early onset of Parkinson's disease, characterised by a loss of dopaminergic neurons in the midbrain [2]. Even after more than a decade of intense research, the exact cellular function of DJ-1 is still elusive. Two hall...

2010
Changshui Xu Jun Xu Yanmin Zhang Jianjun Ma Hideshi Kawakami Hirofumi Maruyama Masaki Kamada

Objective. To screen the susceptibility genes in Chinese pedigrees with early-onset familial Parkinson's disease (FPD). Methods. Fifty-one genomic DNA samples extracted from two Chinese pedigrees with FPD, the alpha-synuclein genes (SNCA), the leucine-rich repeat kinase 2(LRRK2), PINK1(PTEN-induced putative kinase 1), PARK7(Protein DJ1), PARK2(Parkinson juvenile disease protein 2), the glucocer...

2007
Chakresh Kumar Jain Nisha Vishwanathan

Parkinson’s disease, a neurodegenerative disorder, has prominent symptoms like tremor, rigidity, akinesia and bradykinesia. Cases of Parkinson’s disease are reported to be more in old age, mostly above the age of 60 years. Loss of dopaminergic neurons of the substantia nigra causes lack of motor functions. The dopaminergic neurons synthesizing dopamine from L-tyrosine degenerate. Both genetic a...

Journal: :Archives of neurology 2010
Roy N Alcalay Elise Caccappolo Helen Mejia-Santana Ming Xin Tang Llency Rosado Barbara M Ross Miguel Verbitsky Sergey Kisselev Elan D Louis Cynthia Comella Amy Colcher Danna Jennings Martha A Nance Susan B Bressman William K Scott Caroline Tanner Susan Mickel Howard Andrews Cheryl Waters Stanley Fahn Lucien Cote Steven Frucht Blair Ford Michael Rezak Kevin Novak Joseph H Friedman Ronald Pfeiffer Laura Marsh Bradley Hiner Andrew Siderowf Ruth Ottman Karen Marder Lorraine N Clark

OBJECTIVE To assess the frequency and clinical characteristics of carriers of previously identified mutations in 6 genes associated with early-onset Parkinson disease (PD) and provide empirical data that can be used to inform genetic counseling. DESIGN Cross-sectional observational study. SETTING Thirteen movement disorders centers. PATIENTS Nine hundred fifty-three individuals with early...

2016
Diana A. Olszewska Conor Fearon Tim Lynch

Mutations in six genes are known to cause Parkinson's disease (PD) (autosomal dominant: alpha-synuclein, LRRK2, VPS35 and autosomal recessive: Parkin, PINK1 and DJ1) and number of other genes are implicated. In a recent article Deng and colleagues studied a large four generation American family of European descent and linked mutations in a novel gene, transmembrane-protein 230 gene (TMEM230) wi...

Journal: :Horticulturae 2022

The genus Morus L., mulberry, is an interesting taxonomic group on account of its existing genetic variability, functional food potential and commercial importance. Mulberry trees are found in a wide range areas Serbia, accounting for large phenotypic diversity resources. Tree fruit characteristics more than 300 mulberry specimens were surveyed, 15 genotypes alba, nigra rubra species selected f...

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