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Neurological Deficits of an Rps19(Arg67del) Model of Diamond-Blackfan Anaemia
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SYSNO ASEP 0473380 Druh ASEP J - Článek v odborném periodiku Zařazení RIV J - Článek v odborném periodiku Poddruh J Článek ve WOS Název Neurological Deficits of an Rps19(Arg67del) Model of Diamond-Blackfan Anaemia Tvůrce(i) Kubik-Zahorodna, Agnieszka (UMG-J)
Schuster, Bjorn (UMG-J)
Kanchev, Ivan (UMG-J) RID
Sedláček, Radislav (UMG-J) RIDCelkový počet autorů 4 Zdroj.dok. Folia Biologica. - : Univerzita Karlova v Praze - ISSN 0015-5500
Roč. 62, č. 4 (2016), s. 139-147Poč.str. 9 s. Jazyk dok. eng - angličtina Země vyd. CZ - Česká republika Klíč. slova ribosomal-protein s19 ; sod1(g93a) mouse model ; huntingtons-disease ; early pathogenesis ; molecular-basis ; axial apraxia ; mutations ; rps19 ; gene ; mice Vědní obor RIV EB - Genetika a molekulární biologie CEP NT14451 GA MZd - Ministerstvo zdravotnictví Institucionální podpora UMG-J - RVO:68378050 UT WOS 000384769700001 Anotace 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. Pracoviště Ústav molekulární genetiky Kontakt Nikol Škňouřilová, nikol.sknourilova@img.cas.cz, Tel.: 241 063 217 Rok sběru 2017
Počet záznamů: 1