Abstract:
:Recently, a mutation in NUS1 has been reported to be associated with Parkinson's disease (PD) in a Chinese population. To further investigate the relationship between NUS1 and sporadic PD, we sequenced all exons and exon-intron boundaries of NUS1 in Chinese Han population including 494 PD patients and 478 healthy control individuals. As a result, we did not find the pathogenic mutation of NUS1 in PD patients. However, we detect 9 exonic variants including 4 synonymous variants and 5 nonsynonymous variants. Pathogenicity predictions indicated that 2 novel nonsynonymous variants (c.432 T>G, c.86 G>C) may be deleterious. All variants showed no significant association with sporadic PD. These results suggested that NUS1 mutation may not be a common genetic factor for Chinese patients with sporadic PD.
journal_name
Neurobiol Agingjournal_title
Neurobiology of agingauthors
Chen X,Xiao Y,Zhou M,Lin Y,Guo W,Huang S,Qiu J,Peng G,Mo M,Li Z,Zhu X,Xu Pdoi
10.1016/j.neurobiolaging.2019.09.002subject
Has Abstractpub_date
2020-02-01 00:00:00pages
202.e5-202.e6eissn
0197-4580issn
1558-1497pii
S0197-4580(19)30322-7journal_volume
86pub_type
杂志文章abstract::Here we report the relationship between age at onset, clinical course and genotype in a family with combined LRRK2 G2019S and Parkin exon 2 deletions. In the combined mutation carriers the age at onset and clinical course was highly variable and not always younger than in the carriers of LRRK2 G2019S mutations alone. ...
journal_title:Neurobiology of aging
pub_type: 杂志文章
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
pub_type: 杂志文章
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2007.05.012
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journal_title:Neurobiology of aging
pub_type: 杂志文章
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2012.11.025
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/0197-4580(93)90029-b
更新日期:1993-01-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/s0197-4580(99)00007-x
更新日期:1999-03-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2007.05.016
更新日期:2009-01-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2017.08.005
更新日期:2017-11-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2019.12.003
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/s0197-4580(99)00019-6
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/s0197-4580(00)00099-3
更新日期:2000-09-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2010.05.011
更新日期:2011-12-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2014.09.020
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journal_title:Neurobiology of aging
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doi:10.1016/j.neurobiolaging.2003.12.004
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2009.10.015
更新日期:2011-11-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2012.11.005
更新日期:2013-05-01 00:00:00
abstract::The significance of amyloid beta protein, especially those ending at the 42nd residue (Abeta42), in the pathogenesis of familial Alzheimer's disease (FAD) linked to the mutations of presenilins, was examined by transfection studies using cultured cells and immunohistochemical analysis of autopsied brains. The levels o...
journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/s0197-4580(98)00027-x
更新日期:1998-01-01 00:00:00
abstract:OBJECTIVE:To determine the patterns of cerebral glucose metabolism in frontotemporal dementia (FTD) and semantic dementia (SD). METHODS:25 patients with mild FTD and 9 patients with mild SD as well as 15 healthy age-matched control subjects underwent 18F-FDG- positron emission tomography. Patient scans were compared w...
journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2003.10.007
更新日期:2004-09-01 00:00:00
abstract::Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by an extensive loss of motor neurons in the primary motor cortex, brainstem, and spinal cord. Genetic studies report a high heritability of ALS. Recently, whole-exome sequencing analysis of familial ALS (FALS) patients allow...
journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2015.09.013
更新日期:2016-01-01 00:00:00
abstract::Amyotrophic lateral sclerosis (ALS) is a lethal neurological disease primarily involving the spinal cord, brainstem, and corticospinal tract. Recently, mutations in the GLE1 gene were reported in Caucasian ALS patients. To inquire whether Chinese ALS patients carried causal mutations in the gene, we screened all 16 co...
journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2017.12.029
更新日期:2018-06-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2011.06.004
更新日期:2012-08-01 00:00:00
abstract::Aging-related episodic memory decline is often attributed to insufficient encoding of new information, although the underlying neural processes remain elusive. We here tested the hypothesis that impaired memory consolidation contributes to aging-related memory decline. To this end, we used resting state functional mag...
journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2016.06.004
更新日期:2016-09-01 00:00:00
abstract::The review by Harbaugh describes new methods for delivering drugs to the diseases and damaged central nervous system. The potential of these methods, infusible pumps, implantable polymers, and neural transplants, is truly extraordinary. One can anticipate that many neurological disorders may be treated by these method...
journal_title:Neurobiology of aging
pub_type: 临床试验,杂志文章
doi:10.1016/0197-4580(89)90166-8
更新日期:1989-09-01 00:00:00