The pathophysiology of fragile X (and what it teaches us about synapses)

AL Bhakar, G Dölen, MF Bear - Annual review of neuroscience, 2012 - annualreviews.org
Fragile X is the most common known inherited cause of intellectual disability and autism,
and it typically results from transcriptional silencing of FMR1 and loss of the encoded …

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 …

[HTML][HTML] The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP

I Napoli, V Mercaldo, PP Boyl, B Eleuteri, F Zalfa… - Cell, 2008 - cell.com
Strong evidence indicates that regulated mRNA translation in neuronal dendrites underlies
synaptic plasticity and brain development. The fragile X mental retardation protein (FMRP) is …

[图书][B] Structure and function of intrinsically disordered proteins

P Tompa, A Fersht - 2009 - taylorfrancis.com
The existence and functioning of intrinsically disordered proteins (IDPs) challenge the
classical structure-function paradigm that equates function with a well-defined 3D structure …

A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability

F Zalfa, B Eleuteri, KS Dickson, V Mercaldo… - Nature …, 2007 - nature.com
Fragile X syndrome (FXS) results from the loss of the fragile X mental retardation protein
(FMRP), an RNA-binding protein that regulates a variety of cytoplasmic mRNAs. FMRP …

Decreased expression of the GABAA receptor in fragile X syndrome

C d'Hulst, N De Geest, SP Reeve, D Van Dam… - Brain research, 2006 - Elsevier
After our initial discovery of under expression of the GABAA receptor δ subunit in a genome
wide screening for differentially expressed mRNAs in brain of fragile X mice, a validated …

Strategies for RNA folding and assembly

R Schroeder, A Barta, K Semrad - Nature reviews Molecular cell biology, 2004 - nature.com
RNA is structurally very flexible, which provides the basis for its functional diversity. An RNA
molecule can often adopt different conformations, which enables the regulation of its …

Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes

JC Darnell, CE Fraser, O Mostovetsky… - Genes & …, 2005 - genesdev.cshlp.org
Fragile-X mental retardation is caused by loss of function of a single gene encoding the
Fragile-X mental retardation protein, FMRP, an RNA-binding protein that harbors two KH …

Biochemical evidence for the association of fragile X mental retardation protein with brain polyribosomal ribonucleoparticles

EW Khandjian, ME Huot, S Tremblay… - Proceedings of the …, 2004 - National Acad Sciences
Fragile X syndrome is caused by the absence of the fragile X mental retardation protein
(FMRP). This RNA-binding protein is widely expressed in human and mouse tissues, and it …

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 …