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CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome
Open accessAbstract
Intellectual disability (ID) and autism spectrum disorders (ASDs) have in common alterations in some brain circuits and brain abnormalities, such as synaptic transmission and dendritic spines morphology. Recent studies have indicated a differential expression for specific categories of genes as a cause for both types of disease, while an increasing number of genes is recognized to produce both disorders. An example is the Fragile X mental retardation gene 1 (FMR1), whose silencing causes the Fragile X syndrome, the most common form of ID and autism, also characterized by physical hallmarks. Fragile X mental retardation protein (FMRP), the protein encoded by FMR1, is an RNA-binding protein with an important role in translational control. Among the interactors of FMRP, CYFIP1/2 (cytoplasmic FMRP interacting protein) proteins are good candidates for ID and autism, on the bases of their genetic implication and functional properties, even if the precise functional significance of the CYFIP/FMRP interaction is not understood yet. CYFIP1 and CYFIP2 represent a link between Rac1, the WAVE (WAS protein family member) complex and FMRP, favoring the cross talk between actin polymerization and translational control.
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“Indeed, it is reported that reduction of Cyfip1 or fly Hspc300 affects the level of the other components of the WRC (Kunda et al., 2003; Schenck et al., 2004; Abekhoukh and Bardoni, 2014; Gautier et al., 2011; Qurashi et al., 2007; De Rubeis et al., 2013).”
From New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes (2017) · cites this paper as Abekhoukh and Bardoni, 2014
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“while it is known that CYFIP1 interacts with many proteins (Rac, WRC members and membrane components) that are not known partners of FMRP (Abekhoukh and Bardoni, 2014).”
From New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes (2017) · cites this paper as Abekhoukh and Bardoni, 2014
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“CYFIP1 and CYFIP2 are members of a family of proteins interacting with the Fragile X mental retardation protein (FMRP, encoded by FMR1) in mammals, as well as in the fly (Abekhoukh and Bardoni, 2014; Schenck et al., 2001, 2003).”
From New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes (2017) · cites this paper as Abekhoukh and Bardoni, 2014
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“Owing to their high level of homology, CYFIP1 and CYFIP2 have been often considered as having the same function (Abekhoukh and Bardoni, 2014).”
From New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes (2017) · cites this paper as Abekhoukh and Bardoni, 2014
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“These conclusions are consistent with the fact that FMRP is, indeed, not only involved in translation regulation (Maurin et al., 2014) and CYFIP1 is a component of complexes that do not contain FMRP (Abekhoukh and Bardoni, 2014; Chen et al., 2014).”
From New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes (2017) · cites this paper as Abekhoukh and Bardoni, 2014
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Metadata
- Authors
- Abekhoukh, S., & Bardoni, B.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Corresponding author
- Bardoni, Barbara
- Venue
- Frontiers in Cellular Neuroscience
- Publisher
- Frontiers Media SA
- Published
- 2014-03-27
- Volume
- 8
- Pages
- 81-81
- ISSN
- 1662-5102 (ISSN-L)
- PMC
- PMC3973919
- OpenAlex
- W2123421954
- Cited by
- 110
- References
- 89
- Citations by year
- 2026: 1 · 2025: 6 · 2024: 9 · 2023: 16 · 2022: 5 · 2021: 11 · 2020: 12 · 2019: 10 · 2018: 14 · 2017: 8 · 2016: 9 · 2015: 8 · 2014: 1
- FWCI
- 1.15
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Frontiers in Cellular Neuroscience (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Agence Nationale de la Recherche (ANR-11-LABX-0028)
- Institut National de la Santé et de la Recherche Médicale (ANR-11-LABX-0028-01)
- Fondation ARC pour la Recherche sur le Cancer (#ANR-11-LABX-0028-01)
- Centre National de la Recherche Scientifique (ANR-11-LABX-0028-01)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- CYFIP1, CYFIP2, FMRP, FMR1 gene, fragile X syndrome, autism spectrum disorder, intellectual disability, translational regulation, actin polymerization, WAVE complex, Rac1, synaptic transmission, dendritic spines
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