Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics.Scharf J.M., Endrizzi M.G., Wetter A., Huang S., Thompson T.G., Zerres K., Dietrich W.F., Wirth B., Kunkel L.M.View abstractCategoriesSequencesSourceMGI: 109257PubMedEurope PMCNat. Genet. 20:83-86 (1998)Cited in4Mapped to18
Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron.Bergin A., Kim G., Price D.L., Sisodia S.S., Lee M.K., Rabin B.A.View abstractCategoriesSequencesSourceMGI: 109257PubMedEurope PMCGene 204:47-53 (1997)Mapped to9
Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system.Battaglia G., Princivalle A., Forti F., Lizier C., Zeviani M.View abstractCategoriesSequences, ExpressionSourceMGI: 109257PubMedEurope PMCHum. Mol. Genet. 6:1961-1971 (1997)Cited in1Mapped to9
Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos.Schrank B., Goetz R., Gunnersen J.M., Ure J.M., Toyka K.V., Smith A.G., Sendtner M.View abstractCategoriesFunction, SequencesSourceMGI: 109257PubMedEurope PMCProc. Natl. Acad. Sci. U.S.A. 94:9920-9925 (1997)Cited in1Mapped to8
Genetic and physical mapping of the mouse host resistance locus Lgn1.Diez E., Beckers M.C., Ernst E., DiDonato C.J., Simard L.R., Morissette C., Gervais F., Yoshida S.I., Gros P.CategoriesFunction, SequencesSourceMGI: 109257PubMedEurope PMCMamm Genome 8:682-685 (1997)Mapped to20
Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene.Didonato C.J., Chen X.N., Noya D., Korenberg J.R., Nadeau J.H., Simard L.R.View abstractCategoriesSequencesSourceMGI: 109257PubMedEurope PMCGenome Res. 7:339-352 (1997)Cited in1Mapped to13
cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn).Viollet L., Bertrandy S., Brunialti A.L.B., Lefebvre S., Burlet P., Clermont O., Cruaud C., Guenet J.-L., Munnich A., Melki J.View abstractCategoriesSequencesSourceMGI: 109257PubMedEurope PMCGenomics 40:185-188 (1997)Cited in1Mapped to8
The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5.Scharf J.M., Damron D., Frisella A., Bruno S., Beggs A.H., Kunkel L.M., Dietrich W.F.View abstractCategoriesSequencesSourceMGI: 109257PubMedEurope PMCGenomics 38:405-417 (1996)Cited in33Mapped to50
Identification and characterization of a spinal muscular atrophy- determining gene.Lefebvre S., Buerglen L., Reboullet S., Clermont O., Burlet P., Viollet L., Benichou B., Cruaud C., Millasseau P.[...], Melki J.View abstractCategoriesSequencesSourceMGI: 109257PubMedEurope PMCCell 80:155-165 (1995)Cited in1Mapped to9
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.Bussaglia E., Clermont O., Tizzano E., Lefebvre S., Burglen L., Cruaud C., Urtizberea J.A., Colomer J., Munnich A., Baiget M.View abstractCategoriesSequencesSourceMGI: 109257PubMedEurope PMCNat Genet 11:335-337 (1995)Mapped to9
Systemic LPS Administration Stimulates the Activation of Non-Neuronal Cells in an Experimental Model of Spinal Muscular Atrophy.Karafoulidou E., Kesidou E., Theotokis P., Konstantinou C., Nella M.K., Michailidou I., Touloumi O., Polyzoidou E., Salamotas I.[...], Grigoriadis N.View abstractCategoriesNames, ExpressionSourceMGI: 109257PubMedEurope PMCCells 13:785-785 (2024)Mapped to18
Improved gene therapy for spinal muscular atrophy in mice using codon- optimized hSMN1 transgene and hSMN1 gene-derived promotor.Xie Q., Chen X., Ma H., Zhu Y., Ma Y., Jalinous L., Cox G.F., Weaver F., Yang J.[...], Xie J.View abstractCategoriesFunctionSourceMGI: 109257PubMedEurope PMCEMBO Mol Med 16:945-965 (2024)Mapped to18
Depletion of SMN protein in mesenchymal progenitors impairs the development of bone and neuromuscular junction in spinal muscular atrophy.Hann S.H., Kim S.Y., Kim Y.L., Jo Y.W., Kang J.S., Park H., Choi S.Y., Kong Y.Y.View abstractAnnotationDepletion of SMN protein in mesenchymal progenitors impairs the development of bone and neuromuscular junction in spinal muscular atrophy.CategoriesFunctionSourceGeneRif: 20595PubMedEurope PMCElife 12:RP92731-RP92731 (2024)Mapped to11
SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy.Valsecchi V., Errico F., Bassareo V., Marino C., Nuzzo T., Brancaccio P., Laudati G., Casamassa A., Grimaldi M.[...], Usiello A.View abstractAnnotationSMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy.CategoriesFunctionSourceGeneRif: 20595, MGI: 109257PubMedEurope PMCCommun Biol 6:1155-1155 (2023)Mapped to43
Diaphragm Fatigue in SMNDelta7 Mice and Its Molecular Determinants: An Underestimated Issue.Cadile F., Recchia D., Ansaldo M., Rossi P., Rastelli G., Boncompagni S., Brocca L., Pellegrino M.A., Canepari M.View abstractCategoriesFunctionSourceMGI: 109257PubMedEurope PMCInt J Mol Sci 24:14953-14953 (2023)Mapped to18
Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy.Lumpkin C.J., Harris A.W., Connell A.J., Kirk R.W., Whiting J.A., Saieva L., Pellizzoni L., Burghes A.H.M., Butchbach M.E.R.View abstractCategoriesFunctionSourceMGI: 109257PubMedEurope PMCSci Rep 13:10374-10374 (2023)Mapped to18
Dysregulation of Aldh1a2 underlies motor neuron degeneration in spinal muscular atrophy.Kataoka M., Sahashi K., Tsujikawa K., Takeda J.I., Hirunagi T., Iida M., Katsuno M.View abstractCategoriesFunction, ExpressionSourceMGI: 109257PubMedEurope PMCNeurosci Res 194:58-65 (2023)Mapped to11
Nifedipine Ameliorates Cellular Differentiation Defects of Smn-Deficient Motor Neurons and Enhances Neuromuscular Transmission in SMA Mice.Tejero R., Alsakkal M., Hennlein L., Lopez-Cabello A.M., Jablonka S., Tabares L.View abstractAnnotationNifedipine Ameliorates Cellular Differentiation Defects of Smn-Deficient Motor Neurons and Enhances Neuromuscular Transmission in SMA Mice.CategoriesFunction, Phenotypes & VariantsSourceGeneRif: 20595PubMedEurope PMCInt J Mol Sci 24:7648-7648 (2023)Mapped to11
MiR34 contributes to spinal muscular atrophy and AAV9-mediated delivery of MiR34a ameliorates the motor deficits in SMA mice.Chen T.H., Chang S.H., Wu Y.F., Yen Y.P., Hsu F.Y., Chen Y.C., Ming Y., Hsu H.C., Su Y.C.[...], Chen J.A.View abstractCategoriesFunctionSourceMGI: 109257PubMedEurope PMCMol Ther Nucleic Acids 32:144-160 (2023)Mapped to18
Base editing rescue of spinal muscular atrophy in cells and in mice.Arbab M., Matuszek Z., Kray K.M., Du A., Newby G.A., Blatnik A.J., Raguram A., Richter M.F., Zhao K.T.[...], Liu D.R.View abstractCategoriesFunctionSourceMGI: 109257PubMedEurope PMCScience 380:eadg6518-eadg6518 (2023)Mapped to18
A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses.Kim J.K., Jha N.N., Awano T., Caine C., Gollapalli K., Welby E., Kim S.S., Fuentes-Moliz A., Wang X.[...], Monani U.R.View abstractAnnotationA spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses.CategoriesFunction, Phenotypes & VariantsSourceGeneRif: 20595, MGI: 109257PubMedEurope PMCNeuron 111:1423-1439.e4 (2023)Mapped to41
Long-Term <i>SMN</i>- and <i>Ncald</i>-ASO Combinatorial Therapy in SMA Mice and <i>NCALD</i>-ASO Treatment in hiPSC-Derived Motor Neurons Show Protective Effects.Muinos-Buhl A., Rombo R., Ling K.K., Zilio E., Rigo F., Bennett C.F., Wirth B.View abstractCategoriesFunction, Phenotypes & VariantsSourceMGI: 109257PubMedEurope PMCInt J Mol Sci 24:4198-4198 (2023)Mapped to9
Potentiation of neuromuscular transmission by a small molecule calcium channel gating modifier improves motor function in a severe spinal muscular atrophy mouse model.Ojala K.S., Kaufhold C.J., Davey M.R., Yang D., Liang M., Wipf P., Badawi Y., Meriney S.D.View abstractCategoriesFunctionSourceMGI: 109257PubMedEurope PMCHum Mol Genet 32:1901-1911 (2023)Mapped to18
DG9-conjugated morpholino rescues phenotype in SMA mice by reaching the CNS via a subcutaneous administration.Aslesh T., Erkut E., Ren J., Lim K.R.Q., Woo S., Hatlevig S., Moulton H.M., Gosgnach S., Greer J.[...], Yokota T.View abstractCategoriesFunctionSourceMGI: 109257PubMedEurope PMCJCI Insight 8:e160516-e160516 (2023)Mapped to9
Survival motor neuron protein and neurite degeneration are regulated by Gemin3 in spinal muscular atrophy motoneurons.Miralles M.P., Sansa A., Beltran M., Soler R.M., Garcera A.View abstractCategoriesFunctionSourceMGI: 109257PubMedEurope PMCFront Cell Neurosci 16:1054270-1054270 (2022)Mapped to18