The molecular biology of FMRP: new insights into fragile X syndrome

JD Richter, X Zhao - Nature Reviews Neuroscience, 2021 - nature.com
Fragile X mental retardation protein (FMRP) is the product of the fragile X mental retardation
1 gene (FMR1), a gene that—when epigenetically inactivated by a triplet nucleotide repeat …

From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome

C Bagni, WT Greenough - Nature Reviews Neuroscience, 2005 - nature.com
The mental retardation protein FMRP is involved in the transport of mRNAs and their
translation at synapses. Patients with fragile X syndrome, in whom FMRP is absent or …

Competing protein-RNA interaction networks control multiphase intracellular organization

DW Sanders, N Kedersha, DSW Lee, AR Strom… - Cell, 2020 - cell.com
Liquid-liquid phase separation (LLPS) mediates formation of membraneless condensates
such as those associated with RNA processing, but the rules that dictate their assembly …

The pathophysiology of fragile x syndrome

O Penagarikano, JG Mulle… - Annu. Rev. Genomics …, 2007 - annualreviews.org
Fragile X syndrome is the most common form of inherited mental retardation. The disorder is
mainly caused by the expansion of the trinucleotide sequence CGG located in the 5′ UTR …

The state of synapses in fragile X syndrome

BE Pfeiffer, KM Huber - The Neuroscientist, 2009 - journals.sagepub.com
Fragile X syndrome (FXS) is the most common inherited form of mental retardation and a
leading genetic cause of autism. There is increasing evidence in both FXS and other forms …

Fragile X syndrome: from molecular pathology to therapy

T Maurin, S Zongaro, B Bardoni - Neuroscience & Biobehavioral Reviews, 2014 - Elsevier
Abstract Fragile X Syndrome (FXS) is the most common form of inherited intellectual
disability due to the silencing of the FMR1 gene encoding FMRP (Fragile X Mental …

Fragile X mental retardation protein induces synapse loss through acute postsynaptic translational regulation

BE Pfeiffer, KM Huber - Journal of neuroscience, 2007 - Soc Neuroscience
Fragile X syndrome, as well as other forms of mental retardation and autism, is associated
with altered dendritic spine number and structure. Fragile X syndrome is caused by loss-of …

Human FMRP contains an integral tandem Agenet (Tudor) and KH motif in the amino terminal domain

LK Myrick, H Hashimoto, X Cheng… - Human molecular …, 2015 - academic.oup.com
Fragile X syndrome, a common cause of intellectual disability and autism, is due to
mutational silencing of the FMR1 gene leading to the absence of its gene product, fragile X …

A mouse model of the human Fragile X syndrome I304N mutation

JB Zang, ED Nosyreva, CM Spencer, LJ Volk… - PLoS …, 2009 - journals.plos.org
The mental retardation, autistic features, and behavioral abnormalities characteristic of the
Fragile X mental retardation syndrome result from the loss of function of the RNA–binding …

G-quartet-dependent recognition between the FMRP RGG box and RNA

A Ramos, D Hollingworth, A Pastore - Rna, 2003 - rnajournal.cshlp.org
Fragile-X syndrome, the most common monogenic form of mental retardation, is caused by
down-regulation of the expression of Fragile X Mental Retardation Protein (FMRP). FMRP is …