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ATP13A2 variability in Taiwanese Parkinson's disease
American journal of medical genetics. Part B, Neuropsychiatric genetics, 2011-09, Vol.156B (6), p.720-729
Chen, Chiung-Mei
Lin, Chih-Hsin
Juan, Hsueh-Fen
Hu, Fen-Ju
Hsiao, Ya-Chin
Chang, Hsin-Yi
Chao, Chih-Ying
Chen, I-Cheng
Lee, Li-Ching
Wang, Tsu-Wei
Chen, Ya-Tang
Chen, Yi-Tsun
Lee-Chen, Guey-Jen
Wu, Yih-Ru
2011
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Chen, Chiung-Mei
Lin, Chih-Hsin
Juan, Hsueh-Fen
Hu, Fen-Ju
Hsiao, Ya-Chin
Chang, Hsin-Yi
Chao, Chih-Ying
Chen, I-Cheng
Lee, Li-Ching
Wang, Tsu-Wei
Chen, Ya-Tang
Chen, Yi-Tsun
Lee-Chen, Guey-Jen
Wu, Yih-Ru
Titel
ATP13A2 variability in Taiwanese Parkinson's disease
Ist Teil von
American journal of medical genetics. Part B, Neuropsychiatric genetics, 2011-09, Vol.156B (6), p.720-729
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2011
Quelle
Wiley Online Library Journals Frontfile Complete
Beschreibungen/Notizen
Mutations in ATP13A2 have been reported to associate with Parkinson's disease (PD). This study investigates the contribution of genetic variants in ATP13A2 to Taiwanese PD. ATP13A2 cDNA fragments from 65 early onset PD (onset <50 years) were sequenced. The identified variants were validated in a cohort of PD (n = 493) and ethnically matched controls (n = 585). A novel heterozygous G1014S, located at the conserved seventh transmembrane domain of ATP13A2 protein, was identified in an early onset PD patient, which was absent in 585 normal controls. Additionally, a reported heterozygous A746T was found in two PD patients and four controls. The clinical features and 99mTc‐TRODAT‐1 single photon emission computed tomography (SPECT) image of the patients carrying G1014S and A746T were similar to that of idiopathic PD. One normal control with A746T showed an asymmetric reduction of 99mT TRODAT‐1 uptake in the right striatum. Under oxidative stress or apoptotic stimulus, lymphoblastoid cells carrying either A764T or G1014S showed increased caspase 3 activity compared with the controls. The rates of decay for G1014S and A746T proteins were more or less reduced in cycloheximide chase experiment. In silico modeling of G1014S exhibited a more stable feature than wild‐type, and G1014S is mislocalized mainly in the intralysosomal space, which is coherent with the prediction of prohibiting N‐myristoylation and membrane association. We therefore hypothesize that rare variants of ATP13A2 may contribute to PD susceptibility in Taiwan. The role played by ATP13A2 variants in PD remains to be clarified. © 2011 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4841, 1552-485X
eISSN: 1552-485X
DOI: 10.1002/ajmg.b.31214
Titel-ID: cdi_proquest_miscellaneous_883312457
Format
–
Schlagworte
Adult
,
Aged
,
Aged, 80 and over
,
Apoptosis
,
ATP13A2
,
Base Sequence
,
Biological and medical sciences
,
Caspase 3 - biosynthesis
,
Caspase 3 - metabolism
,
Caspase-3
,
Cell Line, Tumor
,
Cycloheximide
,
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
,
expression study
,
Female
,
Genetic Variation
,
Humans
,
Male
,
Medical genetics
,
Medical sciences
,
Middle Aged
,
Movement disorders
,
Mutation
,
mutation screening
,
Neostriatum
,
Nervous system (semeiology, syndromes)
,
Nervous system as a whole
,
Neurodegenerative diseases
,
Neurology
,
Oxidative Stress
,
Parkinson Disease - genetics
,
Parkinson Disease - metabolism
,
Parkinson's disease
,
protein structure modeling
,
Protein Structure, Tertiary
,
Proton-Translocating ATPases - chemistry
,
Proton-Translocating ATPases - genetics
,
RNA, Messenger - analysis
,
RNA, Messenger - biosynthesis
,
Sequence Analysis, DNA
,
Single photon emission computed tomography
,
Taiwan
,
Transmembrane domains
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