title: [A mice model of amyotrophic lateral sclerosis expressing mutant human FUS protein].
abstract: BACKGROUND AND ОBJECTIVE: Loss of conformation and function of sufficient number of proteins with high aggregation capacity plays an important role in the pathogenesis of many neurodegenerative disorders (NDD). Due to a recent discovery of new array of proteins with the capacity to form aggregates of nonamyloid type, new NDD models as well as a new level of understanding in vivo models which are already exist is needed. DNA/RN A binding proteins - FUS and TDP-43 play a crucial role in the pathogenesis of some forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. The objective of the study was to develop a new ALS transgenic model.
  
  
  METHODS
  In cell culture experiments, we studied mutant FUS proteins capable to form intracellular deposits morphologically similar to those observed in the autopsy material of ALS patients.
  
  
  CONCLUSIONS
  We created a transgenic mice line, in which a pathogenic form of human FUS protein was expressed in the nervous system. That led to the aggregation of FUS protein in spinal cord and motor neurons with the following degeneration and development of a phenotype, similar to the human ALS disease phenotype, in young grown-up animals. This neurodegenerative phenotype corresponds to a great number of clinical manifestations of human ALS and is an adequate transgenic model of the disease.
authors.forename: A V
authors.initials: AV
authors.lastname: Deĭkin
authors.forename: E A
authors.initials: EA
authors.lastname: Kovrazhkina
authors.forename: R K
authors.initials: RK
authors.lastname: Ovchinnikov
authors.forename: E V
authors.initials: EV
authors.lastname: Bronovitskiĭ
authors.forename: O D
authors.initials: OD
authors.lastname: Razinskaia
authors.forename: A P
authors.initials: AP
authors.lastname: Smirnov
authors.forename: T G
authors.initials: TG
authors.lastname: Ermolkevich
authors.forename: A B
authors.initials: AB
authors.lastname: Eliakov
authors.forename: A N
authors.initials: AN
authors.lastname: Popov
authors.forename: E N
authors.initials: EN
authors.lastname: Fedorov
authors.forename: O A
authors.initials: OA
authors.lastname: Lytkina
authors.forename: M S
authors.initials: MS
authors.lastname: Kukharskiĭ
authors.forename: T V
authors.initials: TV
authors.lastname: Tarasova
authors.forename: T A
authors.initials: TA
authors.lastname: Shelkovnikova
authors.forename: A A
authors.initials: AA
authors.lastname: Ustiugov
authors.forename: N N
authors.initials: NN
authors.lastname: Ninkina
authors.forename: I L
authors.initials: IL
authors.lastname: Gol'dman
authors.forename: E R
authors.initials: ER
authors.lastname: Sadchikova
authors.forename: S O
authors.initials: SO
authors.lastname: Bachurin
authors.forename: V I
authors.initials: VI
authors.lastname: Skvortsova
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D009154:Mutation; D034702:RNA-Binding Protein FUS / Q000235:genetics* / Q000378:metabolism; D060888:Real-Time Polymerase Chain Reaction; D013116:Spinal Cord / Q000378:metabolism
chemical_list: D034702:RNA-Binding Protein FUS