[HTML][HTML] Alternative splicing and related RNA binding proteins in human health and disease

Y Tao, Q Zhang, H Wang, X Yang, H Mu - Signal Transduction and …, 2024 - nature.com
Alternative splicing (AS) serves as a pivotal mechanism in transcriptional regulation,
engendering transcript diversity, and modifications in protein structure and functionality …

[HTML][HTML] Short tandem repeat expansions and RNA-mediated pathogenesis in myotonic dystrophy

ŁJ Sznajder, MS Swanson - International Journal of Molecular Sciences, 2019 - mdpi.com
Short tandem repeat (STR) or microsatellite, expansions underlie more than 50 hereditary
neurological, neuromuscular and other diseases, including myotonic dystrophy types 1 …

[HTML][HTML] circMbl functions in cis and in trans to regulate gene expression and physiology in a tissue-specific fashion

NR Pamudurti, IL Patop, A Krishnamoorthy, O Bartok… - Cell reports, 2022 - cell.com
Muscleblind (mbl) is an essential muscle and neuronal splicing regulator. Mbl hosts multiple
circular RNAs (circRNAs), including circMbl, which is conserved from flies to humans. Here …

[HTML][HTML] Non-canonical functions of spliceosome components in cancer progression

OM Ivanova, KS Anufrieva, AN Kazakova… - Cell Death & …, 2023 - nature.com
Dysregulation of pre-mRNA splicing is a common hallmark of cancer cells and it is
associated with altered expression, localization, and mutations of the components of the …

[HTML][HTML] Molecular functions and specific roles of circRNAs in the cardiovascular system

LM Holdt, A Kohlmaier, D Teupser - Non-coding RNA research, 2018 - Elsevier
As part of the superfamily of long noncoding RNAs, circular RNAs (circRNAs) are emerging
as a new type of regulatory molecules that partake in gene expression control. Here, we …

MBNL expression in autoregulatory feedback loops

P Konieczny, E Stepniak-Konieczna, K Sobczak - RNA biology, 2018 - Taylor & Francis
Muscleblind-like (MBNL) proteins bind to hundreds of pre-and mature mRNAs to regulate
their alternative splicing, alternative polyadenylation, stability and subcellular localization …

MBNL splicing activity depends on RNA binding site structural context

K Taylor, ŁJ Sznajder, P Cywoniuk… - Nucleic acids …, 2018 - academic.oup.com
Muscleblind-like (MBNL) proteins are conserved RNA-binding factors involved in alternative
splicing (AS) regulation during development. While AS is controlled by distribution of MBNL …

[HTML][HTML] Dysregulation of circular RNAs in myotonic dystrophy type 1

C Voellenkle, A Perfetti, M Carrara, P Fuschi… - International journal of …, 2019 - mdpi.com
Circular RNAs (circRNAs) constitute a recently re-discovered class of non-coding RNAs
functioning as sponges for miRNAs and proteins, affecting RNA splicing and regulating …

Comparative Genomics of the BDNF Gene, Non-Canonical Modes of Transcriptional Regulation, and Neurological Disease

J Keifer - Molecular Neurobiology, 2021 - Springer
Alternative splicing of genes in the central nervous system is ubiquitous and utilizes many
different mechanisms. Splicing generates unique transcript or protein isoforms of the primary …

[HTML][HTML] Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

DM Dincã, L Lallemant, A González-Barriga… - Nature …, 2022 - nature.com
Brain dysfunction in myotonic dystrophy type 1 (DM1), the prototype of toxic RNA disorders,
has been mainly attributed to neuronal RNA misprocessing, while little attention has been …