Associated Papers
Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.
Stringer BW et al.
Embo Molecular Medicine, 2026
Chaperoning the chaperones: Proteomic analysis of the SMN complex reveals conserved and etiologic connections to the proteostasis network.
Matera AG et al.
Biorxiv : the Preprint Server for Biology, 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
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
Conditional deletion of SMN in cell culture identifies functional SMN alleles.
Blatnik AJ et al.
Human Molecular Genetics, 2020
Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy.
Walsh MB et al.
Bmc Biology, 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
Diverse role of survival motor neuron protein.
Singh RN et al.
Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms, 2017
How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
Li W
Plos One, 2017
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
Neuron-specific knock-down of SMN1 causes neuron degeneration and death through an apoptotic mechanism.
Gallotta I et al.
Human Molecular Genetics, 2016
Reconstitution of the human U snRNP assembly machinery reveals stepwise Sm protein organization.
Neuenkirchen N et al.
The Embo Journal, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
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
The gemin2-binding site on SMN protein: accessibility to antibody.
Lam le T et al.
Biochemical and Biophysical Research Communications, 2013
Solution structure of the core SMN-Gemin2 complex.
Sarachan KL et al.
The Biochemical Journal, 2012
Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy.
Workman E et al.
Brain Research, 2012
A novel Caenorhabditis elegans allele, smn-1(cb131), mimicking a mild form of spinal muscular atrophy, provides a convenient drug screening platform highlighting new and pre-approved compounds.
Sleigh JN 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
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