@article{1dc4edb424024f959ad2a08853a59791,
title = "Genetic and functional characters of GRN p.T487I mutation in Taiwanese patients with atypical parkinsonian disorders",
abstract = "Background: Mutations in the GRN (granulin precursor) are a frequent cause of frontotemporal dementia (FTD) and other atypical parkinsonian disorders. However, the frequency of GRN mutations in Asian patients with atypical parkinsonian disorders is still uncertain. Methods: We screened GRN mutations by sequencing cDNA from 98 patients with FTD or atypical parkinsonian disorders. The functional properties of the identified mutation were evaluated by overexpression in human embryonic kidney (HEK)-293 cells. Results: We identified a new missense (GRN p.T487I) mutation in a female patient with undefined atypical parkinsonism. The overexpression experiment further demonstrated that p.T487I mutation reduced the progranulin protein level and stability in HEK-293 cells. Conclusion: GRN p.T487I mutation, which decreases the stability of progranulin protein, could be a new causative mutation in patients with atypical parkinsonian disorders.",
keywords = "GRN, Parkinsonism, Progranulin",
author = "Chang, {Kuo Hsuan} and Guan-Chiun Lee and Huang, {Chin Chang} and Kuo, {Hung Chou} and Chen, {Chiung Mei} and Hsiao, {Ya Chin} and Hsu, {Hsuan Chu} and Hsu, {Ke Jen} and Lin, {Chih Hsin} and Chang, {Chia Wen} and Lee-Chen, {Guey Jen} and Wu, {Yih Ru}",
note = "Funding Information: We appreciate the technical assistance of next generating sequencing from Department of Laboratory Medicine in National Taiwan University Hospital. This study was sponsored by Chang Gung Memorial Hospital, Taipei, Taiwan (CMRPG3A0131), and National Science Council, Executive Yuan, Taiwan (NSC98-2628-B-182A-001-MY3). The funding agencies had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. Funding Information: We appreciate the technical assistance of next generating sequencing from Department of Laboratory Medicine in National Taiwan University Hospital. This study was sponsored by Chang Gung Memorial Hospital , Taipei, Taiwan ( CMRPG3A0131 ), and National Science Council , Executive Yuan, Taiwan ( NSC98-2628-B-182A-001-MY3 ). The funding agencies had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. Publisher Copyright: {\textcopyright} 2018 Elsevier Ltd",
year = "2018",
month = jun,
doi = "10.1016/j.parkreldis.2018.02.045",
language = "English",
volume = "51",
pages = "61--66",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier BV",
}