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Lissencephaly 1 linking to multiple diseases - Mental retardation, neurodegeneration, schizophrenia, male sterility, and more

期刊

NEUROMOLECULAR MEDICINE
卷 8, 期 4, 页码 547-565

出版社

HUMANA PRESS INC
DOI: 10.1385/NMM:8:4:547

关键词

brain development; Dynein; LIS1; lissencephaly; male sterility; microcephaly; PAFAH; reelin; schizophrenia; virus

资金

  1. FIC NIH HHS [R03TW007048] Funding Source: Medline
  2. FOGARTY INTERNATIONAL CENTER [R03TW007048] Funding Source: NIH RePORTER

向作者/读者索取更多资源

Lissencephaly (LIS1) was the first gene implicated in the pathogenesis of type-1 lissencephaly. More than a decade of research by multiple laboratories has revealed that LIS1 is a key node protein, which participates in several pathways, including association with the molecular motor cytoplasmic dynein, the reelin signaling pathway, and the platelet-activating factor pathway. Mutations in LIS1-interacting proteins, either in human, or in mouse models has suggested that LIS1 might play a role in the pathogenesis of numerous diseases such as male sterility, schizophrenia, neuronal degeneration, and viral infections.

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