RNA-binding proteins in human genetic disease

F Gebauer, T Schwarzl, J Valcárcel… - Nature Reviews …, 2021 - nature.com
RNA-binding proteins (RBPs) are critical effectors of gene expression, and as such their
malfunction underlies the origin of many diseases. RBPs can recognize hundreds of …

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 …

RNA transport and local translation in neurodevelopmental and neurodegenerative disease

MS Fernandopulle, J Lippincott-Schwartz… - Nature …, 2021 - nature.com
Neurons decentralize protein synthesis from the cell body to support the active metabolism
of remote dendritic and axonal compartments. The neuronal RNA transport apparatus …

catRAPID omics v2.0: going deeper and wider in the prediction of protein–RNA interactions

A Armaos, A Colantoni, G Proietti, J Rupert… - Nucleic Acids …, 2021 - academic.oup.com
Prediction of protein–RNA interactions is important to understand post-transcriptional events
taking place in the cell. Here we introduce cat RAPID omics v2. 0, an update of our web …

RNA-binding proteins in neurological development and disease

S Prashad, PP Gopal - RNA biology, 2021 - Taylor & Francis
ABSTRACT RNA-binding proteins are a critical group of multifunctional proteins that
precisely regulate all aspects of gene expression, from alternative splicing to mRNA …

Dopaminergic dysregulation in syndromic autism spectrum disorders: insights from genetic mouse models

P Kosillo, HS Bateup - Frontiers in Neural Circuits, 2021 - frontiersin.org
Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by altered social
interaction and communication, and repetitive, restricted, inflexible behaviors. Approximately …

RNA partitioning into stress granules is based on the summation of multiple interactions

T Matheny, B Van Treeck, TN Huynh, R Parker - Rna, 2021 - rnajournal.cshlp.org
Stress granules (SGs) are stress-induced RNA–protein assemblies formed from a complex
transcriptome of untranslating ribonucleoproteins (RNPs). Although RNAs can be either …

The RNA Binding Proteins YTHDC1 and FMRP Regulate the Nuclear Export of N6-Methyladenosine-Modified Hepatitis B Virus Transcripts and Affect the Viral Life …

GW Kim, H Imam, A Siddiqui - Journal of Virology, 2021 - Am Soc Microbiol
ABSTRACT YTHDC1 and fragile X mental retardation protein (FMRP) bind N 6-
methyladenosine (m6A)-modified RNAs and facilitate their transport to the cytoplasm. Here …

Interneuron dysfunction and inhibitory deficits in autism and fragile X syndrome

T Nomura - Cells, 2021 - mdpi.com
The alteration of excitatory–inhibitory (E–I) balance has been implicated in various
neurological and psychiatric diseases, including autism spectrum disorder (ASD). Fragile X …

The p53-induced RNA-binding protein ZMAT3 is a splicing regulator that inhibits the splicing of oncogenic CD44 variants in colorectal carcinoma

BR Muys, DG Anastasakis, D Claypool… - Genes & …, 2021 - genesdev.cshlp.org
Abstract p53 is an intensely studied tumor-suppressive transcription factor. Recent studies
suggest that the RNA-binding protein (RBP) ZMAT3 is important in mediating the tumor …