Concept
Spinal muscular atrophies
Related publications (11)
AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn(2B/-) spinal muscular atrophy mice
Structural, functional and molecular cardiac defects have been reported in spinal muscular atrophy (SMA) patients and mouse models. Previous quantitative proteomics analyses demonstrated widespread molecular defects in the severe Taiwanese SMA mouse model. ...
OXFORD UNIV PRESS2023SMN Depleted Mice Offer a Robust and Rapid Onset Model of Nonalcoholic Fatty Liver Disease
BACKGROUND & AIMS: Nonalcoholic fatty liver disease (NAFLD) is considered a health epidemic with potential devastating effects on the patients and the healthcare systems. Current preclinical models of NAFLD are invariably imperfect and generally take a lon ...
2021Lack of effect on ambulation of dalfampridine-ER (4-AP) treatment in adult SMA patients
SMA is a genetically determined motor system disorder that results in muscle weakness, selective motor neuron death, muscle atrophy, and impaired functional mobility. In SMA model systems, long-term treatment with 4-aminopyridine (4-AP) has been shown to i ...
PERGAMON-ELSEVIER SCIENCE LTD2020Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic development
Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are the two most common motoneuron disorders, which share typical pathological hallmarks while remaining genetically distinct. Indeed, SMA is caused by deletions or mutations in the surv ...
ELSEVIER SCIENCE BV2018WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models
SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death. Although SMN is required in every cell for proper RNA metabolism, the re ...
Academic Press Inc Elsevier Science2017ALS disrupts spinal motor neuron maturation and aging pathways within gene co-expression networks
ALS patient iPSC-derived motor neurons aim to model disease phenotypes. The authors demonstrate that these cells transcriptomically resemble fetal rather than adult spinal motor neurons, and familial and sporadic forms of ALS disrupt gene networks and path ...
2016Marinesco-Sjogren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS
Bernard Schneider, Céline Ruegsegger, Niran Maharjan
Mechanisms underlying motor neuron subtype selective endoplasmic reticulum (ER) stress and associated axonal pathology in amyotrophic lateral sclerosis (ALS) remain unclear. Here we show that the molecular environment of the ER between motor neuron subtype ...
Nature Publishing Group2015Efficient transduction of non-human primate motor neurons after intramuscular delivery of recombinant AAV serotype 6
Patrick Aebischer, Bernard Schneider, Christopher Towne
Retrograde transport of viral vectors in the rodent spinal cord provides a powerful means to administer a therapeutic transgene from the innervated musculature. With the aim of scaling up this approach to non-human primates, we have injected recombinant ad ...
2010Adeno-Associated Virus-Mediated Gene Delivery for the Treatment of Amyotrophic Lateral Sclerosis and other Motor Neuron Disorders
The delivery of molecules and genes to the central nervous system (CNS) poses a major challenge for the treatment of neurodegenerative diseases. CNS disorders require long-term intervention and the presence of the blood-brain barrier (BBB) restricts the pe ...
EPFL2010Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation
Didier Trono, Isabelle Barde, Sonia Verp
In spinal muscular atrophy (SMA), the leading genetic cause of early childhood death, the survival motor neuron 1 gene (SMN1) is deleted or inactivated. The nearly identical SMN2 gene has a silent mutation that impairs the utilization of exon 7 and the pro ...
Oxford University Press2008