In vivo characterization of the aspartyl-tRNA synthetase DARS: Homing in on the leukodystrophy HBSL

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• 作者：Dominik Fr&ouml ; hlich^a ; ^{d.frohlich@unsw.edu.au} ; Alexandra K. Suchowerska^b ; ^{a.suchowerska@unsw.edu.au} ; Ziggy H.T. Spencer^a ; ^{ziggy@unsw.edu.au} ; Georg von Jonquieres^a ; ^{g.jonquieres@unsw.edu.au} ; Claudia B. Klugmann^a ; ^{c.klugmann@unsw.edu.au} ; Andre Bongers^c ; ^{a.bongers@unsw.edu.au} ; Fabien Delerue^d ; ^{fabien.delerue@unsw.edu.au} ; Holly Stefen^b ; ^{h.stefen@unsw.edu.au} ; Lars M. Ittner^d ; ^e ; ^f ; ^{l.ittner@unsw.edu.au} ; Thomas Fath^b ; ^{t.fath@unsw.edu.au} ; Gary D. Housley^a ; ^{g.housley@unsw.edu.au} ; Matthias Klugmann^a ; ^{m.klugmann@unsw.edu.au}
• 关键词：DARS ; HBSL ; Leukodystrophy ; Aminoacyl-tRNA synthetase ; Aspartyl-tRNA synthetase ; Mouse model
• 刊名：Neurobiology of Disease
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：97
• 期：part_PA
• 页码：24-35
• 全文大小：3343 K
• 卷排序：97

文摘

High tissue and cell-type specificity of the aspartyl-tRNA synthetase DARS in mice Synaptic localization of DARS indicates role in local translation. Complete loss of DARS function is embryonically lethal. Dars+/−mice show a reduced pre-pulse inhibition of their acoustic startle response.