The Need for SMN-Independent Treatments of Spinal Muscular Atrophy (SMA) to Complement SMN-Enhancing Drugs [PDF]
Frontiers in Neurology, 2020 Spinal Muscular Atrophy (SMA) is monogenic motoneuron disease caused by low levels of the Survival of Motoneuron protein (SMN). Recently, two different drugs were approved for the treatment of the disease.
Niko Hensel +5 more
doaj +3 more sources
A small molecule antagonist of SMN disrupts the interaction between SMN and RNAP II
Nature Communications, 2022 The SMN protein recognizes symmetric dimethylarginine by its Tudor domain, and SMN deficiency leads to spinal muscular atrophy. Here, Liu et al. discover a small molecule that binds to the SMN Tudor domain and disrupts the interaction between SMN and RNA
Yanli Liu +20 more
doaj +3 more sources
Life Science Alliance, 2023 The survival motor neuron (SMN) protein associates with translation regulators and phase-separates into RNA-stabilized droplets that are likely candidates for the formation of nuclear and cytoplasmic membraneless organelles.
Olivier Binda +10 more
doaj +4 more sources
Conditional deletion of SMN in cell culture identifies functional SMN alleles [PDF]
Human Molecular Genetics, 2020 Abstract Spinal muscular atrophy (SMA) is caused by mutation or deletion of survival motor neuron 1 (SMN1) and retention of SMN2 leading to SMN protein deficiency. We developed an immortalized mouse embryonic fibroblast (iMEF) line in which full-length wild-type Smn (flwt-Smn) can be conditionally deleted using Cre recombinase.
Anton J, Blatnik +5 more
openaire +2 more sources
Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy [PDF]
Neuroscience Insights, 2020 Most cases of spinal muscular atrophy are caused by functional loss of the survival of motor neuron 1 ( SMN1) gene, while less than 5% of cases are attributed to genes other than SMN. Mutations in LMNA, the lamin A/C encoding gene, cause an adult form of spinal muscular atrophy (SMA), and in our recent work, we highlight a role for lamin A/C in SMN ...
Darija Šoltić, Heidi R Fuller
openaire +4 more sources
The spinal muscular atrophy disease protein SMN is linked to the Golgi network. [PDF]
PLoS ONE, 2012 Proximal spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by deficiency of the ubiquitous Survival of Motor Neuron (SMN) protein. SMN has been shown to be transported in granules along the axon and moved through cytoskeletal elements.
Chen-Hung Ting +5 more
doaj +1 more source
Axon outgrowth and neuronal differentiation defects after a-SMN and FL-SMN silencing in primary hippocampal cultures. [PDF]
PLoS ONE, 2018 Spinal Muscular Atrophy (SMA) is a severe autosomal recessive disease characterized by selective motor neuron degeneration, caused by disruptions of the Survival of Motor Neuron 1 (Smn1) gene.
Daniela Pletto +7 more
doaj +1 more source
Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late. [PDF]
PLoS ONE, 2010 Spinal muscular atrophy (SMA) is caused by low survival motor neuron (SMN) levels and patients represent a clinical spectrum due primarily to varying copies of the survival motor neuron-2 (SMN2) gene.
Suzan M Hammond +5 more
doaj +1 more source
Generation of a tamoxifen inducible SMN mouse for temporal SMN replacement [PDF]
genesis, 2011 AbstractProximal spinal muscular atrophy (SMA) is caused by low levels of the SMN protein, encoded by the Survival Motor Neuron genes (SMN1 and SMN2). Mouse models of SMA can be rescued by increased SMN expression, but the timing of SMN replacement for complete rescue is unknown.
Bebee, Thomas W. +2 more
openaire +2 more sources
SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials. [PDF]
PLoS ONE, 2016 Spinal muscular atrophy (SMA) is caused by defects in the survival motor neuron 1 (SMN1) gene that encodes survival motor neuron (SMN) protein. The majority of therapeutic approaches currently in clinical development for SMA aim to increase SMN protein ...
Phillip Zaworski +11 more
doaj +1 more source