Original title:
Body fluid exosomes as potential carriers of Huntington’s disease biomarkers
Authors:
Kupcová Skalníková, Helena ; Červenka, Jakub ; Bohuslavová, Božena ; Turnovcová, Karolína ; Vodička, Petr Document type: Papers Conference/Event: Animal Models of Neurodegenerative Diseases /4./, Liblice (CZ), 20171022
Year:
2017
Language:
eng Abstract:
Huntington’s disease (HD) is a hereditary neurodegenerative disorder characterized by a progressive motor, behavioural, and cognitive decline, ending in death. The cause of HD is an abnormal expansion of CAG repeats in HTT gene resulting in prolonged polyglutamine (polyQ) sequence in huntingtin protein (HTT). Huntingtin is a large protein (348 kDa) expressed ubiquitously through the body, with highest expression in the brain and testes. To study HD pathophysiology and to test experimental therapies, a transgenic HD minipig (TgHD) model expressing N-terminal part (N548-124Q) of human mutated huntingtin (mHTT) under the control of human huntingtin promoter was created in Libechov. Beside the mild neurological impairment, the TgHD boars show decreased fertility after 13th month of age.
Keywords:
Huntington´s disease Project no.: LO1609 (CEP) Funding provider: GA MŠk Host item entry: The 4th Animal Models of Neurodegenerative Diseases
Institution: Institute of Animal Physiology and Genetics AS ČR
(web)
Document availability information: Fulltext is available at the institute of the Academy of Sciences. Original record: http://hdl.handle.net/11104/0279610