Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies

D Li, CS McIntosh, FL Mastaglia, SD Wilton… - Translational …, 2021 - Springer
Precursor messenger RNA (pre-mRNA) splicing is a fundamental step in eukaryotic gene
expression that systematically removes non-coding regions (introns) and ligates coding …

Splicing and neurodegeneration: Insights and mechanisms

S Nik, TV Bowman - Wiley Interdisciplinary Reviews: RNA, 2019 - Wiley Online Library
Splicing is the global cellular process whereby intervening sequences (introns) in precursor
messenger RNA (pre‐mRNA) are removed and expressed regions (exons) are ligated …

Alternative splicing in neurodegenerative disease and the promise of RNA therapies

D Nikom, S Zheng - Nature Reviews Neuroscience, 2023 - nature.com
Alternative splicing generates a myriad of RNA products and protein isoforms of different
functions from a single gene. Dysregulated alternative splicing has emerged as a new …

Aberrant splicing in neurological diseases

D Feng, J Xie - Wiley Interdisciplinary Reviews: RNA, 2013 - Wiley Online Library
Splicing of precursor messenger RNA (pre‐mRNA) removes the intervening sequences
(introns) and joins the expressed regions (exons) in the nucleus, before an intron‐containing …

Invention and early history of exon skipping and splice modulation

KRQ Lim, T Yokota - Exon skipping and inclusion therapies: methods and …, 2018 - Springer
Since its discovery in 1977, much has been known about RNA splicing and how it plays a
central role in human development, function, and, notably, disease. Defects in RNA splicing …

Alternative splicing of neuronal genes: new mechanisms and new therapies

D Lipscombe, EJL Soto - Current opinion in neurobiology, 2019 - Elsevier
Highlights•Alternative splicing is dynamic and supports all stages of neuronal
function.•Studies reveal molecular mechanisms that direct cell-specific exon …

Exploring the diverse functional and regulatory consequences of alternative splicing in development and disease

MB Titus, AW Chang, EC Olesnicky - Frontiers in Genetics, 2021 - frontiersin.org
Alternative splicing is a fundamental mechanism of eukaryotic RNA regulation that increases
the transcriptomic and proteomic complexity within an organism. Moreover, alternative …

Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases

K Siva, G Covello, MA Denti - Nucleic acid therapeutics, 2014 - liebertpub.com
Alternative splicing is an important regulator of the transcriptome. However, mutations may
cause alteration of splicing patterns, which in turn leads to disease. During the past 10 …

The splice of life: alternative splicing and neurological disease

BK Dredge, AD Polydorides, RB Darnell - Nature Reviews …, 2001 - nature.com
Splicing of pre-messenger RNA is regulated differently in the brain compared with other
tissues. Recognition of aberrations in splicing events that are associated with neurological …

Beyond proteome diversity: alternative splicing as a regulator of neuronal transcript dynamics

O Mauger, P Scheiffele - Current opinion in neurobiology, 2017 - Elsevier
Highlights•Function of alternative splicing in neurons is not restricted to diversification of
protein families.•Alternative splicing targets mRNA populations to additional RNA …