Associated Papers
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 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
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
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
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Solution structure of the core SMN-Gemin2 complex.
Sarachan KL et al.
The Biochemical Journal, 2012
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
The SMN binding protein Gemin2 is not involved in motor axon outgrowth.
McWhorter ML et al.
Developmental Neurobiology, 2008
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
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