微管蛋白 Beta 4a 在中枢神经系统发育和疾病中的作用-猫眼课题宝

微管蛋白 Beta 4a 在中枢神经系统发育和疾病中的作用

批准号：

9158393

负责人：

Karel F Liem

金额：

$42.98万

依托单位：

YALE UNIVERSITY

依托单位国家：

美国

项目类别：

财政年份：

2016

资助国家：

美国

项目状态：

已结题

起止时间：

2016-06-01 至 2021-05-31

来源：

https://reporter.nih.gov/project-details/9158393

关键词：

Affect Alleles Amyotrophic Lateral Sclerosis Atrophic Axon Basal Ganglia Behavior Biological Biology CNS degeneration Cell Culture Techniques Cell physiology Cells Central Nervous System Diseases Cerebellum Collection Cytoskeleton Defect Degenerative Disorder Development Developmental Process Disease Dystonia Employee Strikes Functional disorder Genes Genetic Genetic Screening Genetic screening method In Vitro Individual Knock-in LacZ Genes Lead LoxP-flanked allele Methods Microcephaly Microtubules Missense Mutation Modeling Molecular Molecular Genetics Motor Movement Disorders Mus Mutant Strains Mice Mutation Nature Nervous System Physiology Neuraxis Neurons Neurophysiology - biologic function Oligodendroglia Pathology Patients Phenotype Point Mutation Process Property Reporting Research Role Series Subcellular structure Testing Therapeutic Tissues Transmission Electron Microscopy Tubulin base beta Tubulin cell type developmental disease disease phenotype disease-causing mutation genetic analysis granule cell human disease in vivo insight lissencephaly loss of function mammalian genome motor disorder mouse model mutant myelination nervous system development nervous system disorder neurodevelopment neurological pathology novel oculomotor

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英文摘要

Nervous system development and function is critically dependent upon its microtubule-based cytoskeleton. Microtubules are assembled from multiple α- and ß-tubulin isotypes which are encoded by separate, evolutionarily conserved genes. Recently, mutations in the Tubulin ß4a (Tubb4a) have been associated with a spectrum of neurological disorders in patients by sequencing studies. How mutations in the Tubb4a gene cause these disorders is not understood. We have generated a mouse model for Tubb4a-related developmental disorders from a forward genetic screen. Our studies will lead to insights into the mechanisms of the human disease spectrum, as well as to fundamental information on the role of microtubules in mammalian neural development and function.

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Tubulin Beta 4a in central nervous system development and disease

批准号：

9930405
项目类别：
资助金额：

$6.1万
财政年份：

2016
负责人：

Karel F Liem
依托单位：

YALE UNIVERSITY

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