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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 304 - 311 (8page)
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초록· 키워드
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The cytoplasmic FMR1-interacting protein family (CYFIP1 and CYFIP2) are evolutionarily conserved proteins originally identified as binding partners of the fragile X mental retardation protein (FMRP), a messenger RNA (mRNA)-binding protein whose loss causes the fragile X syndrome. Moreover, CYFIP is a key component of the heteropentameric WAVE regulatory complex (WRC), a critical regulator of neuronal actin dynamics. Therefore, CYFIP may play key roles in regulating both mRNA translation and actin polymerization, which are critically involved in proper neuronal development and function. Nevertheless, compared to CYFIP1, neuronal function and dysfunction of CYFIP2 remain largely unknown, possibly due to the relatively less well established association between CYFIP2 and brain disorders. Despite high amino acid sequence homology between CYFIP1 and CYFIP2, several in vitro and animal model studies have suggested that CYFIP2 has some unique neuronal functions distinct from those of CYFIP1. Furthermore, recent whole-exome sequencing studies identified de novo hot spot variants of CYFIP2 in patients with early infantile epileptic encephalopathy (EIEE), clearly implicating CYFIP2 dysfunction in neurological disorders. In this review, we highlight these recent investigations into the neuronal function and dysfunction of CYFIP2, and also discuss several key questions remaining about this intriguing neuronal protein.
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참고문헌 (60)
참고문헌 신청
Marin O / 2010 / Guiding neuronal cell migrations / Cold Spring Harbor Persp Biol 2:a001834
Kevenaar JT / 2015 / The axonal cytoskeleton : from organization to function / Front Mol Neurosci 8:44
Spence EF / 2015 / Actin out : regulation of the synaptic cytoskeleton / J Biol Chem 290:28613~28622
Yan Z / 2016 / Synaptic actin dysregulation, a convergent mechanism of mental disorders? / J Neurosci 36:11411~11417
최수연 / 2015 / Emerging role of synaptic actin-regulatory pathway in the pathophysiology of mood disorders / Animal Cells and Systems 19(5):283~288
Kevenaar JT / 2015 / The axonal cytoskeleton : from organization to function / Front Mol Neurosci 8:44
Spence EF / 2015 / Actin out : regulation of the synaptic cytoskeleton / J Biol Chem 290:28613~28622
Yan Z / 2016 / Synaptic actin dysregulation, a convergent mechanism of mental disorders? / J Neurosci 36:11411~11417
최수연 / 2015 / Emerging role of synaptic actin-regulatory pathway in the pathophysiology of mood disorders / Animal Cells and Systems 19(5):283~288
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