Associated Papers
Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges.
Haque US et al.
Genes, 2024
Proteomic analysis of the SMN complex reveals conserved and etiologic connections to the proteostasis network.
Matera AG et al.
Frontiers in Rna Research, 2024
The TUDOR domain of SMN is an H3K79me1 histone mark reader.
Binda O et al.
Life Science Alliance, 2023
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
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.
Mendonça RH et al.
Neurology. Genetics, 2020
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
Comprehensive Modeling of Spinal Muscular Atrophy in Drosophila melanogaster.
Spring AM et al.
Frontiers in Molecular Neuroscience, 2019
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
How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
Li W
Plos One, 2017
SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila.
Praveen K et al.
Plos Genetics, 2014
A novel function for the survival motoneuron protein as a translational regulator.
Sanchez G et al.
Human Molecular Genetics, 2013
Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy.
Workman E et al.
Brain Research, 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
New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophy.
Gonçalves-Rocha M et al.
Genetic Testing and Molecular Biomarkers, 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
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
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
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
Detection of novel mutations in the SMN Tudor domain in type I SMA patients.
Cuscó I et al.
Neurology, 2004