Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions

JK Nussbacher, R Tabet, GW Yeo, C Lagier-Tourenne - Neuron, 2019 - cell.com
RNA binding proteins are critical to the maintenance of the transcriptome via controlled
regulation of RNA processing and transport. Alterations of these proteins impact multiple …

Molecular mechanisms of fragile X syndrome: a twenty-year perspective

MR Santoro, SM Bray, ST Warren - Annual Review of Pathology …, 2012 - annualreviews.org
Fragile X syndrome (FXS) is a common form of inherited intellectual disability and is one of
the leading known causes of autism. The mutation responsible for FXS is a large expansion …

The neurogenetics of alternative splicing

CK Vuong, DL Black, S Zheng - Nature Reviews Neuroscience, 2016 - nature.com
Alternative precursor-mRNA splicing is a key mechanism for regulating gene expression in
mammals and is controlled by specialized RNA-binding proteins. The misregulation of …

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

C Sellier, F Rau, Y Liu, F Tassone, RK Hukema… - The EMBO …, 2010 - embopress.org
Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder
caused by expansion of 55–200 CGG repeats in the 5′‐UTR of the FMR1 gene. FXTAS is …

[HTML][HTML] SAM68 regulates neuronal activity-dependent alternative splicing of neurexin-1

T Iijima, K Wu, H Witte, Y Hanno-Iijima, T Glatter… - Cell, 2011 - cell.com
The assembly of synapses and neuronal circuits relies on an array of molecular recognition
events and their modification by neuronal activity. Neurexins are a highly polymorphic family …

The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function

LT Gehman, P Meera, P Stoilov, L Shiue… - Genes & …, 2012 - genesdev.cshlp.org
The Rbfox proteins (Rbfox1, Rbfox2, and Rbfox3) regulate the alternative splicing of many
important neuronal transcripts and have been implicated in a variety of neurological …

The RNA-binding protein Sam68 is a multifunctional player in human cancer

P Bielli, R Busà, MP Paronetto… - Endocrine-related …, 2011 - erc.bioscientifica.com
Resistance to chemotherapy is a major complication in the treatment of advanced breast
cancer. Estrogens and prolactin (PRL) are implicated in the pathogenesis of breast cancer …

Transcription and post-transcriptional regulation of spermatogenesis

A Bettegowda, MF Wilkinson - … Transactions of the …, 2010 - royalsocietypublishing.org
Spermatogenesis in mammals is achieved by multiple players that pursue a common goal of
generating mature spermatozoa. The developmental processes acting on male germ cells …

The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

S Pedrotti, P Bielli, MP Paronetto, F Ciccosanti… - The EMBO …, 2010 - embopress.org
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor
neurons in patients with null mutations in the SMN1 gene. An almost identical SMN2 gene is …

Developments in RNA splicing and disease

MG Poulos, R Batra, K Charizanis… - Cold Spring Harbor …, 2011 - cshperspectives.cshlp.org
Pre-mRNA processing, including 5′-end capping, splicing, editing, and polyadenylation,
consists of a series of orchestrated and primarily cotranscriptional steps that ensure both the …