Posttranscriptional upregulation by microRNAs

S Vasudevan - Wiley Interdisciplinary Reviews: RNA, 2012 - Wiley Online Library
MicroRNAs are small non‐coding RNA guide molecules that regulate gene expression via
association with effector complexes and sequence‐specific recognition of target sites on …

Trinucleotide repeat disorders

HT Orr, HY Zoghbi - Annu. Rev. Neurosci., 2007 - annualreviews.org
The discovery that expansion of unstable repeats can cause a variety of neurological
disorders has changed the landscape of disease-oriented research for several forms of …

Spatiotemporal proteomic analysis of stress granule disassembly using APEX reveals regulation by SUMOylation and links to ALS pathogenesis

H Marmor-Kollet, A Siany, N Kedersha, N Knafo… - Molecular cell, 2020 - cell.com
Stress granules (SGs) are cytoplasmic assemblies of proteins and non-translating mRNAs.
Whereas much has been learned about SG formation, a major gap remains in …

Widespread RNA editing dysregulation in brains from autistic individuals

SS Tran, HI Jun, JH Bahn, A Azghadi… - Nature …, 2019 - nature.com
Transcriptomic analyses of postmortem brains have begun to elucidate molecular
abnormalities in autism spectrum disorder (ASD). However, a crucial pathway involved in …

[HTML][HTML] Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome

V Brown, P Jin, S Ceman, JC Darnell, WT O'Donnell… - Cell, 2001 - cell.com
Fragile X syndrome results from the absence of the RNA binding FMR protein. Here, mRNA
was coimmunoprecipitated with the FMRP ribonucleoprotein complex and used to …

Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci

A Takata, N Matsumoto, T Kato - Nature communications, 2017 - nature.com
Detailed analyses of transcriptome have revealed complexity in regulation of alternative
splicing (AS). These AS events often undergo modulation by genetic variants. Here we …

[HTML][HTML] The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses

F Zalfa, M Giorgi, B Primerano, A Moro, A Di Penta… - Cell, 2003 - cell.com
The Fragile X syndrome, which results from the absence of functional FMRP protein, is the
most common heritable form of mental retardation. Here, we show that FMRP acts as a …

Fragile X mental retardation protein regulates translation by binding directly to the ribosome

E Chen, MR Sharma, X Shi, RK Agrawal, S Joseph - Molecular cell, 2014 - cell.com
Fragile X syndrome (FXS) is the most common form of inherited mental retardation, and it is
caused by loss of function of the fragile X mental retardation protein (FMRP). FMRP is an …

[HTML][HTML] The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

Q Liu, U Fischer, F Wang, G Dreyfuss - Cell, 1997 - cell.com
Spinal muscular atrophy (SMA), one of the most common fatal autosomal recessive
diseases, is characterized by degeneration of motor neurons and muscular atrophy. The …

Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway

P Jin, DC Zarnescu, S Ceman, M Nakamoto… - Nature …, 2004 - nature.com
Fragile X syndrome is caused by a loss of expression of the fragile X mental retardation
protein (FMRP). FMRP is a selective RNA-binding protein which forms a messenger …