Sensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI) (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Sensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI) (Articolo in rivista) (literal)

Anno

• 2014-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1038/srep03644 (literal)

Alternative label

• Saccone, Paola; Cotugno, Gabriella; Russo, Fabio; Mastrogiacomo, Rosa; Tessitore, Alessandra; Auricchio, Alberto; De Leonibus, Elvira (2014)
  Sensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI)
  in Scientific reports (Nature Publishing Group)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Saccone, Paola; Cotugno, Gabriella; Russo, Fabio; Mastrogiacomo, Rosa; Tessitore, Alessandra; Auricchio, Alberto; De Leonibus, Elvira (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 4 (literal)

Rivista

• Scientific reports (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

• 7 (literal)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy Institute of Genetics and Biophysics, CNR, Naples, Italy Medical Genetics, Dept. of Pediatrics, \"Federico II\" University, Naples, Italy (literal)

Titolo

• Sensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI) (literal)

Abstract

• Maroteaux-Lamy disease, also known as mucopolysaccharidosis (MPS) VI, is an MPS disorder caused by mutations in the ARSB gene encoding for the lysosomal enzyme arysulfatase B (ARSB). Deficient ARSB activity leads to lysosomal accumulation of dermatan sulfate in a wide range of tissues and organs. There are various animal models of MPS VI that have been well characterized from a biochemical and morphological point of view. In this study, we report the sensory-motor characterization of MPS VI rats carrying homozygous null ARSB mutations. We show that adult MPS VI rats are specifically impaired in vertical activity and motor endurance. All together, these data are consistent with biochemical findings that show a major impairment in connective tissues, such as joints and bones. The behavioral abnormalities of MPS VI rats represent fundamental endpoints for studies aimed at testing the pre-clinical safety and efficacy of novel therapeutic approaches for MPS VI. (literal)

Prodotto di

• Variabilità del genoma ed alterazioni genetiche nell'uomo e loro impatto biologico - (SV.P13.004.001) (Modulo)
• Institute of genetics and biophysics \"Adriano Buzzati Traverso\" (IGB) (Istituto)

Autore CNR

• ELVIRA DE LEONIBUS (Persona)

Incoming links:

Prodotto

• Institute of genetics and biophysics \"Adriano Buzzati Traverso\" (IGB) (Istituto)
• Variabilità del genoma ed alterazioni genetiche nell'uomo e loro impatto biologico - (SV.P13.004.001) (Modulo)

Autore CNR di

• ELVIRA DE LEONIBUS (Persona)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Scientific reports (Rivista)