Associated Papers
Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.
Mikhalchuk K et al.
Clinical Genetics, 2025
Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges.
Haque US et al.
Genes, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.
Niba ETE et al.
Genes, 2022
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 and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy.
Ahn EJ et al.
Journal of Clinical Neurology (seoul, Korea), 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
Oligomeric Properties of Survival Motor Neuron·Gemin2 Complexes.
Gupta K et al.
The Journal of Biological Chemistry, 2015
The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein.
Kwon DY et al.
Molecular Biology of the Cell, 2013
Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy.
He J et al.
Gene, 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
Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.
Thauvin-Robinet C et al.
American Journal of Medical Genetics. Part A, 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
The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.
Fallini C et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011
Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpain.
Fuentes JL et al.
Plos One, 2010
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.
Workman E et al.
Human Molecular Genetics, 2009
Regulation of SMN protein stability.
Burnett BG et al.
Molecular and Cellular Biology, 2009
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
The SMN binding protein Gemin2 is not involved in motor axon outgrowth.
McWhorter ML et al.
Developmental Neurobiology, 2008
Fishing for a mechanism: using zebrafish to understand spinal muscular atrophy.
Beattie CE et al.
Journal of Child Neurology, 2007
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
Zapletalová E et al.
Neuromuscular Disorders : Nmd, 2007
Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts.
Mattis VB et al.
Human Genetics, 2006
Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.
Carrel TL et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006
A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells.
Sharma A et al.
Experimental Cell Research, 2005
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
Modulation of SMN nuclear foci and cytoplasmic localization by its C-terminus.
Hua Y et al.
Cellular and Molecular Life Sciences : Cmls, 2004
Survival motor neuron (SMN) protein interacts with transcription corepressor mSin3A.
Zou J et al.
The Journal of Biological Chemistry, 2004
Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations.
Ogino S et al.
Human Mutation, 2004
Spinal muscular atrophy: molecular genetics and diagnostics.
Ogino S et al.
Expert Review of Molecular Diagnostics, 2004
Genetic testing and risk assessment for spinal muscular atrophy (SMA).
Ogino S et al.
Human Genetics, 2002
A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy.
Young PJ et al.
The Journal of Biological Chemistry, 2002
Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?
Rossoll W et al.
Human Molecular Genetics, 2002
The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding.
Young PJ et al.
Human Molecular Genetics, 2000
The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization.
Le TT et al.
Neurogenetics, 2000
Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein.
Owen N et al.
Human Molecular Genetics, 2000
Identification of survival motor neuron as a transcriptional activator-binding protein.
Strasswimmer J et al.
Human Molecular Genetics, 1999
Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy.
Wang CH et al.
Neurogenetics, 1998
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
Rochette CF et al.
Neurogenetics, 1997
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).
Hahnen E et al.
Human Molecular Genetics, 1997