Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects

ME Rogalska, C Vivori, J Valcárcel - Nature Reviews Genetics, 2023 - nature.com
The removal of introns from mRNA precursors and its regulation by alternative splicing are
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …

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 …

A framework for individualized splice-switching oligonucleotide therapy

J Kim, S Woo, CM de Gusmao, B Zhao, DH Chin… - Nature, 2023 - nature.com
Splice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of
individuals with genetic diseases, but the systematic identification of such individuals …

Splicing mutations in human genetic disorders: examples, detection, and confirmation

A Anna, G Monika - Journal of applied genetics, 2018 - Springer
Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the
presence of consensus “cis” sequences that define exon-intron boundaries and regulatory …

The life and times of a tRNA

EM Phizicky, AK Hopper - RNA, 2023 - rnajournal.cshlp.org
The study of eukaryotic tRNA processing has given rise to an explosion of new information
and insights in the last several years. We now have unprecedented knowledge of each step …

Pluripotent stem cells in disease modelling and drug discovery

Y Avior, I Sagi, N Benvenisty - Nature reviews Molecular cell biology, 2016 - nature.com
Experimental modelling of human disorders enables the definition of the cellular and
molecular mechanisms underlying diseases and the development of therapies for treating …

[PDF][PDF] Overview of the anatomy, physiology, and pharmacology of the autonomic nervous system.

EA Wehrwein, HS Orer, SM Barman - 2016 - researchgate.net
Comprised of the sympathetic nervous system, parasympathetic nervous system, and enteric
nervous system, the autonomic nervous system (ANS) provides the neural control of all parts …

Translation deregulation in human disease

S Tahmasebi, A Khoutorsky, MB Mathews… - … reviews Molecular cell …, 2018 - nature.com
Advances in sequencing and high-throughput techniques have provided an unprecedented
opportunity to interrogate human diseases on a genome-wide scale. The list of disease …

tRNA biology charges to the front

EM Phizicky, AK Hopper - Genes & development, 2010 - genesdev.cshlp.org
tRNA biology has come of age, revealing an unprecedented level of understanding and
many unexpected discoveries along the way. This review highlights new findings on the …

Role of tRNA modifications in human diseases

AG Torres, E Batlle, LR de Pouplana - Trends in molecular medicine, 2014 - cell.com
Transfer RNAs (tRNAs) are key for efficient and accurate protein translation. To be fully
active, tRNAs need to be heavily modified post-transcriptionally. Growing evidence indicates …