Missense mutations resulting in type 1 lissencephaly
| Autor: | Orly Reiner, Frédéric M. Coquelle |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Doublecortin Domain Proteins
Doublecortin Protein Mutation Missense Lissencephaly Nervous System Malformations medicine.disease_cause Protein Structure Secondary Cellular and Molecular Neuroscience Protein structure Microtubule medicine Humans Missense mutation Molecular Biology Gene Pharmacology Genetics Brain Diseases Mutation biology Neuropeptides Brain Syndrome Cell Biology Human brain medicine.disease Doublecortin medicine.anatomical_structure 1-Alkyl-2-acetylglycerophosphocholine Esterase biology.protein Molecular Medicine Microtubule-Associated Proteins |
| Zdroj: | CMLS Cellular and Molecular Life Sciences. 62:425-434 |
| ISSN: | 1420-9071 1420-682X |
| DOI: | 10.1007/s00018-004-4344-0 |
| Popis: | Proper human brain formation is dependent upon the integrated activity of multiple genes. Malfunctioning of key proteins results in brain developmental abnormalities. Mutation(s) in the LIS1 gene or the X-linked gene doublecortin (DCX) results in a spectrum of disorders including lissencephaly, or "smooth brain", and subcortical band heterotopia, or "doublecortex". Here, we will focus on a particular subset of missense mutations in these two genes and their effect on protein structure and function. |
| Databáze: | OpenAIRE |
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