MBNL proteins and their target RNAs, interaction and splicing regulation

P Konieczny, E Stepniak-Konieczna… - Nucleic acids …, 2014 - academic.oup.com
Muscleblind-like (MBNL) proteins are key regulators of precursor and mature mRNA
metabolism in mammals. Based on published and novel data, we explore models of tissue …

Tau Isoforms: Gaining Insight into MAPT Alternative Splicing

A Corsi, C Bombieri, MT Valenti… - International Journal of …, 2022 - mdpi.com
Tau microtubule-associated proteins, encoded by the MAPT gene, are mainly expressed in
neurons participating in axonal transport and synaptic plasticity. Six major isoforms …

Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10+ 16 splice-site mutation in MAPT

T Sposito, E Preza, CJ Mahoney… - Human molecular …, 2015 - academic.oup.com
The alternative splicing of the tau gene, MAPT, generates six protein isoforms in the adult
human central nervous system (CNS). Tau splicing is developmentally regulated and …

[HTML][HTML] Myotonic dystrophy type 1

TD Bird - 2021 - europepmc.org
Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth
muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical …

MBNL sequestration by toxic RNAs and RNA misprocessing in the myotonic dystrophy brain

M Goodwin, A Mohan, R Batra, KY Lee, K Charizanis… - Cell reports, 2015 - cell.com
For some neurological disorders, disease is primarily RNA mediated due to expression of
non-coding microsatellite expansion RNAs (RNA exp). Toxicity is thought to result from …

Myotonic dystrophies: state of the art of new therapeutic developments for the CNS

G Gourdon, G Meola - Frontiers in cellular neuroscience, 2017 - frontiersin.org
Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart
dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting …

Mechanistic determinants of MBNL activity

ŁJ Sznajder, M Michalak, K Taylor… - Nucleic acids …, 2016 - academic.oup.com
Muscleblind-like (MBNL) proteins are critical RNA processing factors in development. MBNL
activity is disrupted in the neuromuscular disease myotonic dystrophy type 1 (DM1), due to …

The natural compound neobractatin inhibits tumor metastasis by upregulating the RNA-binding-protein MBNL2

J Zhang, Z Zheng, M Wu, L Zhang, J Wang, W Fu… - Cell Death & …, 2019 - nature.com
Tumor metastasis is the predominant cause of lethality in cancer. We found that
Neobractatin (NBT), a natural compound isolated from Garcinia bracteata, could efficiently …

Differential regulation of tau exon 2 and 10 isoforms in Huntington's disease brain

S Petry, B Nateghi, R Keraudren, N Sergeant, E Planel… - Neuroscience, 2023 - Elsevier
Huntington's disease (HD) is an inherited neurodegenerative disorder caused by an
expansion of CAG repeats in the Huntingtin (HTT) gene. Accumulating evidence suggests …

Brain pathogenesis and potential therapeutic strategies in myotonic dystrophy type 1

J Liu, ZN Guo, XL Yan, Y Yang… - Frontiers in aging …, 2021 - frontiersin.org
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy that affects
multiple systems including the muscle and heart. The mutant CTG expansion at the 3′-UTR …