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The Role of TMEM230 Gene in Parkinson's Disease.

08:00 EDT 30th August 2018 | BioPortfolio

Summary of "The Role of TMEM230 Gene in Parkinson's Disease."

Parkinson's disease (PD) is a common neurodegenerative disease whose pathogenesis remains unknown. TMEM230 gene, encoding a transmembrane protein in secretory and recycling vesicle, has been recently identified as a novel disease-causing gene of autosomal dominant PD with Lewy pathology and typical clinical symptoms. Although its mutation and variants seem to be rare in PD patients, functional studies have indicated that TMEM230 protein probably plays an important role in secretory and recycling pathway and may be involved in Lewy pathological mechanism. Here we summarize current genetic and functional reports about TMEM230 and focus on its relation with PD.

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This article was published in the following journal.

Name: Journal of Parkinson's disease
ISSN: 1877-718X
Pages:

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Proteins associated with sporadic or familial cases of PARKINSON DISEASE.

A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)

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