The microRNA pathway and fragile X mental retardation protein [PDF]
Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 2008 Fragile X syndrome, one of the most common forms of inherited mental retardation, is caused by the functional loss of fragile X mental retardation protein (FMRP). MicroRNAs (miRNAs), a newly discovered class of small noncoding RNAs, have been implicated in multiple biological processes through posttranscriptional gene regulation.
Li Lin, Yujing Li, Peng Jin
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Different Clinical Faces of the Same Gene Mutation: Fragile X Mental Retardation 1 Disorders
Türk Nöroloji Dergisi, 2021 The fragile X mental retardation 1 gene located on the X-chromosome plays a role in protein synthesis of the same name (fragile X mental retardation protein).
Burcu Asma +2 more
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FMRP regulates GABAA receptor channel activity to control signal integration in hippocampal granule cells [PDF]
, 2022 Fragile X syndrome, the most common inherited form of intellectual disability, is caused by loss of fragile X mental retardation protein (FMRP). GABAergic system dysfunction is one of the hallmarks of FXS, yet the underlying mechanisms remain poorly ...
Cavalli, Valeria +3 more
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Dynamical Fragile Topology in Floquet Crystals [PDF]
Phys. Rev. B 104, L180303 (2021), 2021 Although fragile topology has been intensely studied in static crystals in terms of Wannier obstruction, it is not clear how to generalize the concept to dynamical systems. In this work, we generalize the concept of fragile topology, and provide a definition of fragile topology for noninteracting Floquet crystals, which we refer to as dynamical fragile
arxiv +1 more source
Cardiovascular Problems in the Fragile X Premutation
Frontiers in Genetics, 2020 There is a dearth of information about cardiovascular problems in fragile X premutation carriers who have 55–200 CGG repeats in fragile X mental retardation 1 (FMR1) gene.
Nattaporn Tassanakijpanich +6 more
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Novel Features of dFMR1, the Drosophila Orthologue of the Fragile X Mental Retardation Protein [PDF]
Neurobiology of Disease, 2002 FMRP belongs to a family of widely expressed proteins that contain RNA-binding domains. Although lack of human FMRP results in mental retardation, correlated with subtle synaptic changes, the precise role of FMRP remains elusive. The Drosophila genome contains a single gene homologous to the FXR family.
Annette Schenck +3 more
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TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment [PDF]
Brain - A Journal of Neurology , Oxford University Press (OUP),
2014, 137 (10), pp.2657-2663, 2020 Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we report the identification of the causative gene in spinocerebellar ataxia 21, an autosomal-dominant disorder previously mapped to chromosome 7p21.3-p15.1.
arxiv +1 more source
Comprehensive analysis of ultrasonic vocalizations in a mouse model of fragile X syndrome reveals limited, call type specific deficits. [PDF]
PLoS ONE, 2012 Fragile X syndrome (FXS) is a well-recognized form of inherited mental retardation, caused by a mutation in the fragile X mental retardation 1 (Fmr1) gene.
Snigdha Roy, Nick Watkins, Detlef Heck
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Fragile X Mental Retardation Protein (FMRP) and the Spinal Sensory System [PDF]
, 2011 The purpose of this chapter is to discuss the role of the fragile X mental retardation protein (FMRP) in the spinal sensory system and the potential for use of the mouse model of fragile X syndrome to better understand some aspects of the human syndrome as well as advance knowledge in other areas of investigation, such as pain amplification, an ...
Theodore J. Price +1 more
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Fmrp Interacts with Adar and Regulates RNA Editing, Synaptic Density and Locomotor Activity in Zebrafish. [PDF]
PLoS Genetics, 2015 Fragile X syndrome (FXS) is the most frequent inherited form of mental retardation. The cause for this X-linked disorder is the silencing of the fragile X mental retardation 1 (fmr1) gene and the absence of the fragile X mental retardation protein (Fmrp).
Adi Shamay-Ramot +10 more
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