Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions
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 …
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 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 …
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
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 …
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 …
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 …
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 …
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 …
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
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 …
neurons in patients with null mutations in the SMN1 gene. An almost identical SMN2 gene is …
Developments in RNA splicing and disease
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 …
consists of a series of orchestrated and primarily cotranscriptional steps that ensure both the …