PUBLICATION
Fishing for a mechanism: using zebrafish to understand spinal muscular atrophy
- Authors
- Beattie, C.E., Carrel, T.L., and McWhorter, M.L.
- ID
- ZDB-PUB-070907-23
- Date
- 2007
- Source
- Journal of Child Neurology 22(8): 995-1003 (Review)
- Registered Authors
- Beattie, Christine, Carrel, Tessa, McWhorter, Michelle
- Keywords
- spinal muscular atrophy, SMN, zebrafish
- MeSH Terms
-
- Animals
- Cell Differentiation/genetics
- Cyclic AMP Response Element-Binding Protein/genetics*
- Cyclic AMP Response Element-Binding Protein/metabolism
- Disease Models, Animal
- Genetic Predisposition to Disease/genetics*
- Humans
- Motor Neurons/metabolism
- Motor Neurons/pathology
- Muscle, Skeletal/embryology
- Muscle, Skeletal/innervation
- Muscle, Skeletal/physiopathology
- Muscular Atrophy, Spinal/genetics*
- Muscular Atrophy, Spinal/metabolism*
- Muscular Atrophy, Spinal/physiopathology
- Mutation/genetics
- Nerve Tissue Proteins/genetics*
- Nerve Tissue Proteins/metabolism
- RNA-Binding Proteins/genetics*
- RNA-Binding Proteins/metabolism
- SMN Complex Proteins
- Survival of Motor Neuron 1 Protein
- Zebrafish/embryology*
- Zebrafish/genetics*
- Zebrafish/metabolism
- PubMed
- 17761655 Full text @ J. Child Neurol.
Citation
Beattie, C.E., Carrel, T.L., and McWhorter, M.L. (2007) Fishing for a mechanism: using zebrafish to understand spinal muscular atrophy. Journal of Child Neurology. 22(8):995-1003.
Abstract
Motoneuron diseases cause paralysis and death due to loss of motoneurons that innervate skeletal muscle. Spinal muscular atrophy is a human motoneuron disease that is genetically linked to the survival motor neuron gene (SMN). Although SMN was identified more than a decade ago, it remains unclear how decreased levels of the SMN protein cause spinal muscular atrophy. The use of animal models, however, offers a crucial tool in determining the function of SMN in this disease. In this review, we discuss our efforts to develop a zebrafish model of spinal muscular atrophy.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping