0473380 - ÚMG 2017 RIV CZ eng J - Journal Article
Kubik-Zahorodna, Agnieszka - Schuster, Bjorn - Kanchev, Ivan - Sedláček, Radislav
Neurological Deficits of an Rps19(Arg67del) Model of Diamond-Blackfan Anaemia.
Folia Biologica. Roč. 62, č. 4 (2016), s. 139-147. ISSN 0015-5500. E-ISSN 0015-5500
R&D Projects: GA MZd NT14451
Institutional support: RVO:68378050
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
Impact factor: 0.939, year: 2016 ; AIS: 0.234, rok: 2016

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.
Permanent Link: http://hdl.handle.net/11104/0270520