Smart transcription factors
Article Abstract:
A link is developed between cognitive function and the regulation of gene expression by showing that the mental retardation disease Rubinstein-Taybi Syndrome (RTS) is associated with mutations in the transcription co-activator CREB-binding protein (CBP). However, important questions about the RST and CBP connection remain due to the poorly understood nature of defects in RTS patients. Drugs that act on the cAMP signalling pathway may be useful in treating RTS patients and raise the possibility of enhancing memory and cognitive functions.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1995
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A protein related to extracellular matrix proteins deleted in the mouse mutant reeler
Article Abstract:
Reeler allele-deficient mice show neuronal migration defects, characterized by tremors, ataxia and impaired motor coordination. The reelin gene is expressed by normal mice in embryonic and postnatal neurons during neuronal migration, suggesting the autosomal recessive mouse mutation reeler prevents the expression of reelin. Though reelin is expressed in humans, it has not been linked to any human genetic diseases but a gene with similar protein characteristics is liked to a neuronal migration defect.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1995
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Scrambler and yotari disrupt the disabled gene and produce a reeler-like phenotype in mice
Article Abstract:
Scrambler and yotari, autosomal recessive mouse mutations, arise from mutations in mdab1, a mouse gene connected with the Drosophila gene disabled (dab). Mutated forms of mdab1 messenger RNA are expressed by both scrambler and yotari mice. They express little or no mDab1 protein. It appears that mdab1-expressing cells are exposed to Reelin at the time and location in which developmental abnormalities can be seen in reeler mice. Reelin may activate a tyrosine-phosphorylation pathway.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1997
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