Associated Papers
Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges.
Haque US et al.
Genes, 2024
Identification and structural analysis of the Schizosaccharomyces pombe SMN complex.
Veepaschit J et al.
Nucleic Acids Research, 2021
Assembly of higher-order SMN oligomers is essential for metazoan viability and requires an exposed structural motif present in the YG zipper dimer.
Gupta K et al.
Nucleic Acids Research, 2021
Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy.
Bai J et al.
Journal of Molecular Neuroscience : Mn, 2021
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
32954327 (PubMed )
Supplement: fcaa075_supplementary_data.pdf
Comprehensive Modeling of Spinal Muscular Atrophy in Drosophila melanogaster.
Spring AM et al.
Frontiers in Molecular Neuroscience, 2019
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
SMN and coilin negatively regulate dyskerin association with telomerase RNA.
Poole AR et al.
Biology Open, 2016
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
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
Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene.
Moutou C et al.
Prenatal Diagnosis, 2006
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
Clermont O et al.
Human Mutation, 2004
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