The physiology of alternative splicing
LE Marasco, AR Kornblihtt - Nature Reviews Molecular Cell Biology, 2023 - nature.com
Alternative splicing is a substantial contributor to the high complexity of transcriptomes of
multicellular eukaryotes. In this Review, we discuss the accumulated evidence that most of …
multicellular eukaryotes. In this Review, we discuss the accumulated evidence that most of …
Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects
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 …
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …
The era of cryptic exons: implications for ALS-FTD
TDP-43 is an RNA-binding protein with a crucial nuclear role in splicing, and mislocalises
from the nucleus to the cytoplasm in a range of neurodegenerative disorders. TDP-43 …
from the nucleus to the cytoplasm in a range of neurodegenerative disorders. TDP-43 …
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)
M Oskoui, JW Day, N Deconinck, ES Mazzone… - Journal of …, 2023 - Springer
Risdiplam is an oral, survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier
approved for the treatment of spinal muscular atrophy (SMA). SUNFISH (NCT02908685) …
approved for the treatment of spinal muscular atrophy (SMA). SUNFISH (NCT02908685) …
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
R Masson, M Mazurkiewicz-Bełdzińska… - The Lancet …, 2022 - thelancet.com
Background Risdiplam is an orally administered therapy that modifies pre-mRNA splicing of
the survival of motor neuron 2 (SMN2) gene and is approved for the treatment of spinal …
the survival of motor neuron 2 (SMN2) gene and is approved for the treatment of spinal …
Spinal muscular atrophy: the past, present, and future of diagnosis and treatment
H Nishio, ETE Niba, T Saito, K Okamoto… - International Journal of …, 2023 - mdpi.com
Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive
inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the …
inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the …
Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders
S Jablonka, L Hennlein, M Sendtner - Neurological research and practice, 2022 - Springer
Background Major efforts have been made in the last decade to develop and improve
therapies for proximal spinal muscular atrophy (SMA). The introduction of …
therapies for proximal spinal muscular atrophy (SMA). The introduction of …
[HTML][HTML] Mid-and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec …
J Erdos, C Wild - European Journal of Paediatric Neurology, 2022 - Elsevier
Objectives This systematic review aimed to assess mid-and long-term (at least 12 months)
real-world study data from all types of spinal muscular atrophy (SMA) patients treated with …
real-world study data from all types of spinal muscular atrophy (SMA) patients treated with …
Optimization of base editors for the functional correction of SMN2 as a treatment for spinal muscular atrophy
CRR Alves, LL Ha, R Yaworski, ER Sutton… - Nature biomedical …, 2024 - nature.com
Spinal muscular atrophy (SMA) is caused by mutations in SMN1. SMN2 is a paralogous
gene with a C• G-to-T• A transition in exon 7, which causes this exon to be skipped in most …
gene with a C• G-to-T• A transition in exon 7, which causes this exon to be skipped in most …