New therapies for spinal muscular atrophy: where we stand and what is next
L Antonaci, MC Pera, E Mercuri - European Journal of Pediatrics, 2023 - Springer
The natural history of spinal muscular atrophy has been radically changed by the advent of
improved standards of care and the availability of disease-modifying therapies. The aim of …
improved standards of care and the availability of disease-modifying therapies. The aim of …
AMPK is mitochondrial medicine for neuromuscular disorders
Duchenne muscular dystrophy (DMD), myotonic dystrophy type 1 (DM1), and spinal
muscular atrophy (SMA) are the most prevalent neuromuscular disorders (NMDs) in children …
muscular atrophy (SMA) are the most prevalent neuromuscular disorders (NMDs) in children …
APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer's Disease pathology
A Chemparathy, Y Le Guen, S Chen, EG Lee, L Leong… - Neuron, 2024 - cell.com
The ε4 allele of apolipoprotein E (APOE) is the strongest genetic risk factor for sporadic
Alzheimer's disease (AD). Knockdown of ε4 may provide a therapeutic strategy for AD, but …
Alzheimer's disease (AD). Knockdown of ε4 may provide a therapeutic strategy for AD, but …
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from …
Background Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular
Atrophy infants under 7 months and< 8.5 kg has been reported in clinical trials. This study …
Atrophy infants under 7 months and< 8.5 kg has been reported in clinical trials. This study …
Exploring gene content with pangene graphs
Motivation The gene content regulates the biology of an organism. It varies between species
and between individuals of the same species. Although tools have been developed to …
and between individuals of the same species. Although tools have been developed to …
Onasemnogene abeparvovec in type 1 spinal muscular atrophy: a systematic review and meta-analysis
C Pascual-Morena, I Cavero-Redondo… - Human Gene …, 2023 - liebertpub.com
One of the latest approved therapies for spinal muscular atrophy (SMA) is onasemnogene
abeparvovec, which transduces motor neurons with the survival of motor neuron gene. The …
abeparvovec, which transduces motor neurons with the survival of motor neuron gene. The …
Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor
Physiological regulation of transgene expression is a major challenge in gene therapy.
Onasemnogene abeparvovec (®) is an approved adeno-associated virus (AAV) vector gene …
Onasemnogene abeparvovec (®) is an approved adeno-associated virus (AAV) vector gene …
Gene therapy for monogenic disorders: challenges, strategies, and perspectives
Y Zhang, ZY Wu - Journal of Genetics and Genomics, 2024 - Elsevier
Monogenic disorders refer to a group of human diseases caused by mutations in single
genes. While disease-modifying therapies have offered some relief from symptoms and …
genes. While disease-modifying therapies have offered some relief from symptoms and …
Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification
We sought to devise a rational, systematic approach for defining/grouping survival motor
neuron‐targeted disease‐modifying treatment (DMT) scenarios. The proposed classification …
neuron‐targeted disease‐modifying treatment (DMT) scenarios. The proposed classification …
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations
A Aartsma-Rus, W van Roon-Mom, M Lauffer, C Siezen… - Rna, 2023 - rnajournal.cshlp.org
Splice-modulating antisense oligonucleotides (ASOs) offer treatment options for rare
neurological diseases, including those with very rare mutations, where patient-specific …
neurological diseases, including those with very rare mutations, where patient-specific …