کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8841517 | 1615023 | 2018 | 19 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب (عمومی)
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease](/preview/png/8841517.png)
چکیده انگلیسی
Parkinson's disease (PD) features selective loss of dopaminergic neurons of the substantia nigra pars compacta accompanied by the accumulation and aggregation of alpha-synuclein in Lewy bodies. PTEN induced putative kinase 1 gene (PINK1) mutations are the second most common genetic cause of autosomal recessive early-onset Parkinson's disease (EOPD). A single nucleotide deletion in PINK1 exon 8 (c.1557delG) was identified in a consanguineous Chinese family with EOPD. The homozygous deletion was co-segregated with disease in the family and resulted in a frameshift after codon 520 with a premature termination at codon 522 (p.K520RfsX3). These findings have significant implications on genetic counseling for the family and may be helpful in considering potential pathogenesis-targeted and disease-modifying strategies which should further improve patient quality of life.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuroscience Letters - Volume 676, 29 May 2018, Pages 98-102
Journal: Neuroscience Letters - Volume 676, 29 May 2018, Pages 98-102
نویسندگان
Peng Wang, Yi Guo, Chengyuan Song, Yiming Liu, Hao Deng,