Associated Papers
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.
Niba ETE et al.
Genes, 2022
Phenotypes of SMA patients retaining SMN1 with intragenic mutation.
Wijaya YOS et al.
Brain & Development, 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
High-throughput screening reveals novel mutations in spinal muscular atrophy patients.
Zhang R et al.
Italian Journal of Pediatrics, 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
The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans.
Bai J et al.
Gene, 2018
How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
Li W
Plos One, 2017
28570645 (PubMed )
Supplement: pone.0178519.s002.pdf
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
Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.
Yamamoto T et al.
Brain & Development, 2014
Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China.
Liu WL et al.
Genetics and Molecular Research : Gmr, 2013
Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.
Yu-Jin Q et al.
Bmc Medical Genetics, 2012
[Mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
DU J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
[Study of SMN gene in Chinese children with spinal muscular atrophy].
Liu WL et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2010
Select a paper to view details