Your browser doesn't support javascript.
loading
The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.
Smith, Caley E; Lorson, Monique A; Ricardez Hernandez, Sara M; Al Rawi, Zayd; Mao, Jiude; Marquez, Jose; Villalón, Eric; Keilholz, Amy N; Smith, Catherine L; Garro-Kacher, Mona O; Morcos, Toni; Davis, Daniel J; Bryda, Elizabeth C; Nichols, Nicole L; Lorson, Christian L.
Afiliação
  • Smith CE; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.
  • Lorson MA; Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA.
  • Ricardez Hernandez SM; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.
  • Al Rawi Z; Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA.
  • Mao J; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.
  • Marquez J; Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA.
  • Villalón E; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.
  • Keilholz AN; Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA.
  • Smith CL; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.
  • Garro-Kacher MO; Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA.
  • Morcos T; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.
  • Davis DJ; Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA.
  • Bryda EC; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.
  • Nichols NL; Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA.
  • Lorson CL; Department of Biomedical Sciences, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.
Hum Mol Genet ; 31(8): 1293-1307, 2022 04 22.
Article em En | MEDLINE | ID: mdl-34726235
Spinal muscular atrophy with respiratory distress type I (SMARD1) is a neurodegenerative disease defined by respiratory distress, muscle atrophy and sensory and autonomic nervous system defects. SMARD1 is a result of mutations within the IGHMBP2 gene. We have generated six Ighmbp2 mouse models based on patient-derived mutations that result in SMARD1 and/or Charcot-Marie Tooth Type 2 (CMT2S). Here we describe the characterization of one of these models, Ighmbp2D564N (human D565N). The Ighmbp2D564N/D564N mouse model mimics important aspects of the SMARD1 disease phenotype, including motor neuron degeneration and muscle atrophy. Ighmbp2D564N/D564N is the first SMARD1 mouse model to demonstrate respiratory defects based on quantified plethysmography analyses. SMARD1 disease phenotypes, including the respiratory defects, are significantly diminished by intracerebroventricular (ICV) injection of ssAAV9-IGHMBP2 and the extent of phenotypic restoration is dose-dependent. Collectively, this model provides important biological insight into SMARD1 disease development.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Doenças Neurodegenerativas Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Doenças Neurodegenerativas Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article