4.6 Review

Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies

期刊

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
卷 21, 期 8, 页码 823-830

出版社

ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.semcdb.2010.07.008

关键词

Neurogenetic disease; Neuronal migration; Neurogenesis; Lissencephaly; Therapy

资金

  1. NICHD NIH HHS [R01 HD047380] Funding Source: Medline
  2. NINDS NIH HHS [R01 NS041030] Funding Source: Medline
  3. EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [R01HD047380] Funding Source: NIH RePORTER
  4. NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS041030] Funding Source: NIH RePORTER

向作者/读者索取更多资源

Lissencephaly is a severe human neuronal migration defect characterized by a smooth cerebral surface, mental retardation and seizures. The two most common genes mutated in patients with lissencephaly are LIS1 and DCX. LIS1 was the first gene cloned that was important for neuronal migration in any organism, and heterozygous mutations or deletions of LIS1 are found in the majority of patients with lissencephaly, while DCX mutations were found in males with X-linked lissencephaly. In this review, we will discuss how an understanding of the molecular and cellular pathways disrupted in model organisms with Lis1 and Dcx mutations or knock-down not only provide insights into the normal processes of neuronal migration, including neurogenesis, but they also may lead to potential novel therapeutic strategies for these severe cortical malformations. (C) 2010 Elsevier Ltd. All rights reserved.

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