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Journal article
Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3 epsilon)
Brain sciences, v 12(1)
01 Jan 2022
PMID: 35053800
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
The 17p13.3 chromosome region is often deleted or duplicated in humans, resulting in severe neurodevelopmental disorders such as Miller-Dieker syndrome (MDS) and 17p13.3 duplication syndrome. Lissencephaly can also be caused by gene mutations or deletions of a small piece of the 17p13.3 region, including a single gene or a few genes. PAFAH1B1 gene, coding for LIS1 protein, is a responsible gene for lissencephaly and MDS and regulates neuronal migration by controlling microtubules (MTs) and cargo transport along MTs via dynein. CRK is a downstream regulator of the reelin signaling pathways and regulates neuronal migration. YWHAE, coding for 14-3-3 epsilon, is also responsible for MDS and regulates neuronal migration by binding to LIS1-interacting protein, NDEL1. Although these three proteins are known to be responsible for neuronal migration defects in MDS, there are 23 other genes in the MDS critical region on chromosome 17p13.3, and little is known about their functions in neurodevelopment, especially in neuronal migration. This review will summarize the recent progress on the functions of LIS1, CRK, and 14-3-3 epsilon and describe the recent findings of other molecules in the MDS critical regions in neuronal migration.
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Details
- Title
- Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3 epsilon)
- Creators
- Xiaonan Liu - Drexel Univ, Coll Med, Dept Pharmacol & Physiol, Philadelphia, PA 19129 USASarah A. Bennison - Drexel Univ, Coll Med, Dept Neurobiol & Anat, Philadelphia, PA 19129 USALozen Robinson - Drexel Univ, Coll Med, Dept Neurobiol & Anat, Philadelphia, PA 19129 USAKazuhito Toyo-oka - Drexel Univ, Coll Med, Dept Neurobiol & Anat, Philadelphia, PA 19129 USA
- Publication Details
- Brain sciences, v 12(1)
- Publisher
- Mdpi
- Number of pages
- 14
- Grant note
- NS096098-01A1 / National Institute of Neurological Disorders and Stroke; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Neurological Disorders & Stroke (NINDS) F31HD103405-01A1 / National Institute of Child Health and Human Development; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) Drexel University Students Tackling Advanced Research (STAR) Scholars Program
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Neurobiology and Anatomy; Pharmacology and Physiology
- Web of Science ID
- WOS:000747853700001
- Scopus ID
- 2-s2.0-85122136408
- Other Identifier
- 991019168192304721
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- Web of Science research areas
- Neurosciences