What’s the hype about CDK5RAP2?
| Autor: | Nadine Kraemer, Shyamala Mani, Angela M. Kaindl, Stefanie C. R. Hauck, Olaf Ninnemann, Lina Issa |
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| Rok vydání: | 2011 |
| Předmět: |
Microcephaly
Cell Cycle Proteins Nerve Tissue Proteins Disease Biology medicine.disease_cause Cellular and Molecular Neuroscience Tubulin Cortex (anatomy) medicine Humans Protein Isoforms Molecular Biology Centrioles Pharmacology Genetics Mutation CDK5RAP2 Cyclin-dependent kinase 5 Intracellular Signaling Peptides and Proteins Cell Biology Cell cycle medicine.disease medicine.anatomical_structure Cerebral cortex Gene Knockdown Techniques Molecular Medicine Neuroscience |
| Zdroj: | Cellular and Molecular Life Sciences. 68:1719-1736 |
| ISSN: | 1420-9071 1420-682X |
| DOI: | 10.1007/s00018-011-0635-4 |
| Popis: | Cyclin dependent kinase 5 regulatory subunit-associated protein 2 (CDK5RAP2) has gained attention in the last years following the discovery, in 2005, that recessive mutations cause primary autosomal recessive microcephaly. This disease is seen as an isolated developmental defect of the brain, particularly of the cerebral cortex, and was thus historically also referred to as microcephalia vera. Unraveling the pathomechanisms leading to this human disease is fascinating scientists because it can convey insight into basic mechanisms of physiologic brain development (particularly of cortex formation). It also finds itself in the spotlight because of its implication in trends in mammalian evolution with a massive increase in the size of the cerebral cortex in primates. Here, we provide a timely overview of the current knowledge on the function of CDK5RAP2 and mechanisms that might lead to disease in humans when the function of this protein is disturbed. |
| Databáze: | OpenAIRE |
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