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Neurological Deficits of an Rps19(Arg67del) Model of Diamond-Blackfan Anaemia
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SYSNO ASEP 0473380 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Neurological Deficits of an Rps19(Arg67del) Model of Diamond-Blackfan Anaemia Author(s) Kubik-Zahorodna, Agnieszka (UMG-J)
Schuster, Bjorn (UMG-J)
Kanchev, Ivan (UMG-J) RID
Sedláček, Radislav (UMG-J) RIDNumber of authors 4 Source Title Folia Biologica. - : Univerzita Karlova v Praze - ISSN 0015-5500
Roč. 62, č. 4 (2016), s. 139-147Number of pages 9 s. Language eng - English Country CZ - Czech Republic Keywords ribosomal-protein s19 ; sod1(g93a) mouse model ; huntingtons-disease ; early pathogenesis ; molecular-basis ; axial apraxia ; mutations ; rps19 ; gene ; mice Subject RIV EB - Genetics ; Molecular Biology R&D Projects NT14451 GA MZd - Ministry of Health (MZ) Institutional support UMG-J - RVO:68378050 UT WOS 000384769700001 Annotation Diamond-Blackfan anaemia is a rare disease caused by insufficient expression of ribosomal proteins and is characterized by erythroid hypoplasia often accompanied by growth retardation, congenital craniofacial and limb abnormalities. In addition, Diamond-Blackfan anaemia patients also exhibit a number of behavioural abnormalities. In this study we describe the behavioural effects observed in a new mouse mutant carrying a targeted single amino acid deletion in the ribosomal protein RPS19. This mutant, created by the deletion of arginine 67 in RPS19, exhibits craniofacial, skeletal, and brain abnormalities, accompanied by various neurobehavioural malfunctions. A battery of behavioural tests revealed a moderate cognitive impairment and neuromuscular dysfunction resulting in profound gait abnormalities. This novel Rps19 mutant shows behavioural phenotypes resembling that of the human Diamond-Blackfan anaemia syndrome, thus creating the possibility to use this mutant as a unique murine model for studying the molecular basis of ribosomal protein deficiencies. Workplace Institute of Molecular Genetics Contact Nikol Škňouřilová, nikol.sknourilova@img.cas.cz, Tel.: 241 063 217 Year of Publishing 2017
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