Neural Cell Adhesion Proteins and Neurological Diseases.
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概要
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Neural cell adhesion proteins play important roles in neural development and are involved in various neurological diseases. PO, a major protein in mammalian peripheral myelin, mediates not only homophilic cell adhesion but also neurite outgrowth. The PO glycopeptide inhibits the cell adhesion, but not the neurite outgrowth. Several point mutations of the PO gene in human chromosome 1q22-23 were found in Charcot-Marie-Tooth (CMT) disease type 1B and Dejerine-Sottas (DS) disease. PASII/PMP22 and connexin 32 were also reported as target proteins of similar hereditary neuropathies. L1 is a large multifunctional protein involved in cell adhesion, neurite outgrowth, fasciculation, and neuronal cell migration. A short isoform of L1 localizes in non-neuronal cells in contrast to the complete L1 exclusively expressed in neurons. Recently various L1 mutations have been reported in X-linked hydrocephalus, MASA syndrome with mental retardation and spastic paraplegia type 1. Further studies on the mutations and disease phenotypes are important and interesting.
- 社団法人 日本生化学会の論文
社団法人 日本生化学会 | 論文
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