Associated Papers
Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review.
Chi Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.
Costa-Roger M et al.
Neurology. Genetics, 2024
Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges.
Haque US et al.
Genes, 2024
Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.
Niri F et al.
International Journal of Neonatal Screening, 2023
The TUDOR domain of SMN is an H3K79me1 histone mark reader.
Binda O et al.
Life Science Alliance, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
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
Identification and structural analysis of the Schizosaccharomyces pombe SMN complex.
Veepaschit J et al.
Nucleic Acids Research, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Conditional deletion of SMN in cell culture identifies functional SMN alleles.
Blatnik AJ et al.
Human Molecular Genetics, 2020
Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice.
McGovern VL et al.
Human Molecular Genetics, 2020
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach.
Sneha P et al.
Metabolic Brain Disease, 2018
Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates.
Maretina MA et al.
Current Genomics, 2018
SMA mutations in SMN Tudor and C-terminal domains destabilize the protein.
Takarada T et al.
Brain & Development, 2017
How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
Li W
Plos One, 2017
Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction.
Lanfranco M et al.
Frontiers in Molecular Biosciences, 2017
Disruption of snRNP biogenesis factors Tgs1 and pICln induces phenotypes that mirror aspects of SMN-Gemins complex perturbation in Drosophila, providing new insights into spinal muscular atrophy.
Borg RM et al.
Neurobiology of Disease, 2016
Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.
Qu YJ et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients.
Jędrzejowska M et al.
Neuromuscular Disorders : Nmd, 2014
The survival motor neuron protein forms soluble glycine zipper oligomers.
Martin R et al.
Structure (london, England : 1993), 2012
Mouse models of SMA: tools for disease characterization and therapeutic development.
Bebee TW et al.
Human Genetics, 2012
Spinal muscular atrophy: the role of SMN in axonal mRNA regulation.
Fallini C et al.
Brain Research, 2012
Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy.
Workman E et al.
Brain Research, 2012
Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron.
Locatelli D et al.
Journal of Neurochemistry, 2012
Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins.
Tripsianes K et al.
Nature Structural & Molecular Biology, 2011
HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects.
Hubers L et al.
Human Molecular Genetics, 2011
Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpain.
Fuentes JL et al.
Plos One, 2010
A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2.
Jodelka FM et al.
Human Molecular Genetics, 2010
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
Alías L et al.
Human 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
KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy.
Tadesse H et al.
Human Molecular Genetics, 2008
The SMN binding protein Gemin2 is not involved in motor axon outgrowth.
McWhorter ML et al.
Developmental Neurobiology, 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
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
Sun Y et al.
Human Mutation, 2005