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Zebrafish models for the functional genomics of neurogenetic disorders

Kabashi, Edor ; Brustein, Edna ; Champagne, Nathalie ; Drapeau, Pierre

Biochimica et biophysica acta, 2011-03, Vol.1812 (3), p.335-345 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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  • Título:
    Zebrafish models for the functional genomics of neurogenetic disorders
  • Autor: Kabashi, Edor ; Brustein, Edna ; Champagne, Nathalie ; Drapeau, Pierre
  • Assuntos: Animal models ; Animals ; Disease Models, Animal ; Genomics ; Human diseases ; Human genetics ; Humans ; Neurodegenerative Diseases - genetics ; Neurodegenerative Diseases - pathology ; Neurodegenerative disorders ; Neurodevelopmental diseases ; Neurogenetic diseases ; Trangenic animals ; Zebrafish ; Zebrafish - genetics
  • É parte de: Biochimica et biophysica acta, 2011-03, Vol.1812 (3), p.335-345
  • Notas: ObjectType-Article-2
    SourceType-Scholarly Journals-1
    ObjectType-Feature-3
    content type line 23
    ObjectType-Review-1
  • Descrição: In this review, we consider recent work using zebrafish to validate and study the functional consequences of mutations of human genes implicated in a broad range of degenerative and developmental disorders of the brain and spinal cord. Also we present technical considerations for those wishing to study their own genes of interest by taking advantage of this easily manipulated and clinically relevant model organism. Zebrafish permit mutational analyses of genetic function (gain or loss of function) and the rapid validation of human variants as pathological mutations. In particular, neural degeneration can be characterized at genetic, cellular, functional, and behavioral levels. Zebrafish have been used to knock down or express mutations in zebrafish homologs of human genes and to directly express human genes bearing mutations related to neurodegenerative disorders such as spinal muscular atrophy, ataxia, hereditary spastic paraplegia, amyotrophic lateral sclerosis (ALS), epilepsy, Huntington's disease, Parkinson's disease, fronto-temporal dementia, and Alzheimer's disease. More recently, we have been using zebrafish to validate mutations of synaptic genes discovered by large-scale genomic approaches in developmental disorders such as autism, schizophrenia, and non-syndromic mental retardation. Advances in zebrafish genetics such as multigenic analyses and chemical genetics now offer a unique potential for disease research. Thus, zebrafish hold much promise for advancing the functional genomics of human diseases, the understanding of the genetics and cell biology of degenerative and developmental disorders, and the discovery of therapeutics. This article is part of a Special Issue entitled Zebrafish Models of Neurological Diseases. ► Expression of human genes in zebrafish. ► Genetics of degenerative brain disorders in zebrafish. ► Genetics of degenerative spinal cord disorders in zebrafish. ► Genetics of neurodevelopmental disorders in zebrafish. ► Future prospects for zebrafish molecular genetics and disease modeling.
  • Editor: Netherlands: Elsevier B.V
  • Idioma: Inglês
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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