Associated Papers
Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges.
Haque US et al.
Genes, 2024
What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective.
Blatnik AJ et al.
International Journal of Molecular Sciences, 2021
Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.
Butchbach MER
International Journal of Molecular Sciences, 2021
Conditional deletion of SMN in cell culture identifies functional SMN alleles.
Blatnik AJ et al.
Human Molecular Genetics, 2020
Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates.
Maretina MA et al.
Current Genomics, 2018
Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction.
Lanfranco M et al.
Frontiers in Molecular Biosciences, 2017
SMN control of RNP assembly: from post-transcriptional gene regulation to motor neuron disease.
Li DK et al.
Seminars in Cell & Developmental Biology, 2014
Advances in therapeutic development for spinal muscular atrophy.
Howell MD et al.
Future Medicinal Chemistry, 2014
Survey of common eye diseases in laboratory mouse strains.
Chang B et al.
Investigative Ophthalmology & Visual Science, 2013
Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpain.
Fuentes JL et al.
Plos One, 2010
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Burghes AH et al.
Nature Reviews. Neuroscience, 2009
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.
Workman E et al.
Human Molecular Genetics, 2009
Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes.
Rossoll W et al.
Results and Problems in Cell Differentiation, 2009
Identification and characterization of the porcine (Sus scrofa) survival motor neuron (SMN1) gene: an animal model for therapeutic studies.
Lorson MA et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2008
Fishing for a mechanism: using zebrafish to understand spinal muscular atrophy.
Beattie CE et al.
Journal of Child Neurology, 2007
A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins.
Kotani T et al.
Journal of Neurology, 2007
Gemin2 plays an important role in stabilizing the survival of motor neuron complex.
Ogawa C et al.
The Journal of Biological Chemistry, 2007
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
Sun Y et al.
Human Mutation, 2005