Activation of a cryptic 5' splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene.Singh N.N., Del Rio-Malewski J.B., Luo D., Ottesen E.W., Howell M.D., Singh R.N.View abstractCited forNUCLEOTIDE SEQUENCECategoriesSequencesSourceUniProtKB unreviewed (TrEMBL)PubMedEurope PMCNucleic Acids Res 45:12214-12240 (2017)Cited in7Mapped to14
No title available.Singh N.N., Del Rio-Malewski J.B., Diou L., Eric O.W., Matthew H.D., Singh R.N.Cited forNUCLEOTIDE SEQUENCECategoriesSequencesSourceUniProtKB unreviewed (TrEMBL)Submission Submitted to EMBL/GenBank/DDBJ databases (FEB-2018)Cited in7
Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease.Moulard B., Salachas F., Chassande B., Briolotti V., Meininger V., Malafosse A., Camu W.View abstractAnnotationAssociated with OTHER: sporadic adult-onset lower motor neuron disease.CategoriesDisease & VariantsSourceGAD:141807PubMedEurope PMCAnn Neurol 43:640-644 (1998)Mapped to21
Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature.Li L., Menezes M.P., Smith M., Forbes R., Zuchner S., Burgess A., Woodcock I.R., Delatycki M.B., Yiu E.M.View abstractAnnotationRare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature.SourceGeneRif: 6606PubMedEurope PMCNeuromuscul Disord 37:29-35 (2024)Mapped to21
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: 6606PubMedEurope PMCCommun Biol 6:1155-1155 (2023)Mapped to43
[Analysis of a Chinese pedigree affected with Spinal muscular atrophy due to compound heterozygous variants of SMN gene].Gu Y., Li L., Chen H., Xu L., Fang Y., Xu X., Long Y.View abstractSourceGeneRif: 6606PubMedEurope PMCZhonghua Yi Xue Yi Chuan Xue Za Zhi 40:1387-1391 (2023)Mapped to21
Deletions of SMNI gene exon 7 and NAIP gene exon 5 in spinal muscular atrophy patients in selected population.Hussain N., Alkhateeb M.A., Bashir A., Iqbal R., Hussain T., Aziz T., Al-Abbas N.S., Shaer N.A., Alamri A.S.[...], Labban S.View abstractAnnotationDeletions of SMNI gene exon 7 and NAIP gene exon 5 in spinal muscular atrophy patients in selected population.CategoriesFunctionSourceGeneRif: 6606PubMedEurope PMCEur Rev Med Pharmacol Sci 27:7935-7945 (2023)Mapped to21
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?Ricci M., Cicala G., Capasso A., Coratti G., Fiori S., Cutrona C., D'Amico A., Sansone V.A., Bruno C.[...], Capece G.View abstractAnnotationClinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?SourceGeneRif: 6607PubMedEurope PMCAnn Neurol 94:1126-1135 (2023)Mapped to17
The Carrier Frequency of Two <i>SMN1</i> Genes in Parents of Symptomatic Children with SMA and the Significance of <i>SMN1</i> Exon 8 in Carriers.Davidson J.E., Russell J.S., Martinez N.N., Mowat D.R., Jones K.J., Kirk E.P., Kariyawasam D., Farrar M., D'Silva A.View abstractAnnotationThe Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers.CategoriesFunctionSourceGeneRif: 6606, GeneRif: 6607PubMedEurope PMCGenes (Basel) 14:1403-1403 (2023)Mapped to22
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration.Fortuna T.R., Kour S., Chimata A.V., Muinos-Buhl A., Anderson E.N., Nelson Iv C.H., Ward C., Chauhan O., O'Brien C.[...], Pandey U.B.View abstractAnnotationSMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration.CategoriesFunctionSourceGeneRif: 6606PubMedEurope PMCActa Neuropathol 146:477-498 (2023)Mapped to25
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.Trifunov S., Natera-de Benito D., Carrera-Garcia L., Codina A., Exposito-Escudero J., Ortez C., Medina J., Torres Alcala S., Bernal S.[...], Jimenez-Mallebrera C.View abstractAnnotationFull-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.CategoriesFunctionSourceGeneRif: 6606PubMedEurope PMCJ Neuromuscul Dis 10:653-665 (2023)Mapped to21
Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.Kimizu T., Ida S., Oki K., Shima M., Nishimoto S., Nakajima K., Ikeda T., Mogami Y., Yanagihara K.[...], Suzuki Y.View abstractAnnotationNewborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.CategoriesSequencesSourceGeneRif: 6606, GeneRif: 6607PubMedEurope PMCBrain Dev 45:363-371 (2023)Mapped to22
SMN Deficiency Destabilizes ABCA1 Expression in Human Fibroblasts: Novel Insights in Pathophysiology of Spinal Muscular Atrophy.Gabanella F., Onori A., Pisani C., Fiore M., Ferraguti G., Colizza A., de Vincentiis M., Ceccanti M., Inghilleri M.[...], Di Certo M.G.View abstractAnnotationSMN Deficiency Destabilizes ABCA1 Expression in Human Fibroblasts: Novel Insights in Pathophysiology of Spinal Muscular Atrophy.CategoriesFunctionSourceGeneRif: 6606PubMedEurope PMCInt J Mol Sci 24:2916-2916 (2023)Mapped to30
The RNA-Binding Protein SMN as a Novel Player in Laryngeal Squamous Cell Carcinoma.Gabanella F., Colizza A., Mottola M.C., Francati S., Blacona G., Petrella C., Barbato C., Greco A., Ralli M.[...], Di Certo M.G.View abstractAnnotationThe RNA-Binding Protein SMN as a Novel Player in Laryngeal Squamous Cell Carcinoma.CategoriesFunctionSourceGeneRif: 6606PubMedEurope PMCInt J Mol Sci 24:1794-1794 (2023)Mapped to21
SMN promotes mitochondrial metabolic maturation during myogenesis by regulating the MYOD-miRNA axis.Ikenaka A., Kitagawa Y., Yoshida M., Lin C.Y., Niwa A., Nakahata T., Saito M.K.View abstractAnnotationSMN promotes mitochondrial metabolic maturation during myogenesis by regulating the MYOD-miRNA axis.CategoriesFunction, Disease & VariantsSourceGeneRif: 6606PubMedEurope PMCLife Sci Alliance 6:e202201457-e202201457 (2023)Mapped to39
SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members.Binda O., Juillard F., Ducassou J.N., Kleijwegt C., Paris G., Didillon A., Baklouti F., Corpet A., Coute Y.[...], Lomonte P.View abstractAnnotationSMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members.CategoriesInteractionSourceGeneRif: 6606PubMedEurope PMCLife Sci Alliance 6:e202201429-e202201429 (2023)Mapped to21
A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy.Wang L., Ji Y., Chen Y., Bai J., Gao P., Feng P.View abstractAnnotationA splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy.CategoriesFunction, Disease & VariantsSourceGeneRif: 6607PubMedEurope PMCHum Mol Genet 32:971-983 (2023)Mapped to17
Internal Introns Promote Backsplicing to Generate Circular RNAs from Spinal Muscular Atrophy Gene.Luo D., Singh N.N., Singh R.N.View abstractAnnotationInternal Introns Promote Backsplicing to Generate Circular RNAs from Spinal Muscular Atrophy Gene.CategoriesFunctionSourceGeneRif: 6606PubMedEurope PMCGenes (Basel) 13:1145-1145 (2022)Mapped to21
Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on <i>Survival Motor Neuron 2</i> (<i>SMN2</i>) mRNA Splicing and Expression.Kanda S., Moulton E., Butchbach M.E.R.View abstractAnnotationEffects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on Survival Motor Neuron 2 (SMN2) mRNA Splicing and Expression.CategoriesFunction, ExpressionSourceGeneRif: 6607PubMedEurope PMCMol Pharmacol 102:92-105 (2022)Mapped to17
Comprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number, Intragenic Mutation, and 2 + 0 Carrier Analysis by Third-Generation Sequencing.Li S., Han X., Xu Y., Chang C., Gao L., Li J., Lu Y., Mao A., Wang Y.View abstractAnnotationComprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number Intragenic Mutation and 2 + 0 Carrier Analysis by Third-Generation Sequencing.CategoriesDisease & VariantsSourceGeneRif: 6606PubMedEurope PMCJ Mol Diagn 24:1009-1020 (2022)Mapped to21
Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.Dai M., Xu Y., Sun Y., Xiao B., Ying X., Liu Y., Jiang W., Zhang J., Liu X., Ji X.View abstractAnnotationRevealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.CategoriesSequences, ExpressionSourceGeneRif: 6606, GeneRif: 6607PubMedEurope PMCMol Genet Genomics 297:1039-1048 (2022)Mapped to22
High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed <i>SMN2</i> Splicing in Patient Fibroblasts.Wijaya Y.O.S., Niba E.T.E., Nishio H., Okamoto K., Awano H., Saito T., Takeshima Y., Shinohara M.View abstractAnnotationHigh Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts.CategoriesExpressionSourceGeneRif: 6607PubMedEurope PMCGenes (Basel) 13:685-685 (2022)Mapped to16
Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?Schwartz O., Kolbel H., Blaschek A., Glaser D., Burggraf S., Roschinger W., Schara U., Muller-Felber W., Vill K.View abstractAnnotationSpinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?CategoriesSequences, Disease & VariantsSourceGeneRif: 6607PubMedEurope PMCJ Neuromuscul Dis 9:389-396 (2022)Mapped to17
Activating ATF6 in spinal muscular atrophy promotes SMN expression and motor neuron survival through the IRE1alpha-XBP1 pathway.D'Amico D., Biondi O., Januel C., Bezier C., Sapaly D., Clerc Z., El Khoury M., Sundaram V.K., Houdebine L.[...], Charbonnier F.View abstractAnnotationActivating ATF6 in spinal muscular atrophy promotes SMN expression and motor neuron survival through the IRE1alpha-XBP1 pathway.CategoriesFunctionSourceGeneRif: 6606PubMedEurope PMCNeuropathol Appl Neurobiol 48:e12816-e12816 (2022)Mapped to27
Premature termination codons in SMN1 leading to spinal muscular atrophy trigger nonsense-mediated mRNA decay.Zhang M., Lin Y., Zhang X., Lan F., Zeng J.View abstractAnnotationPremature termination codons in SMN1 leading to spinal muscular atrophy trigger nonsense-mediated mRNA decay.CategoriesFunction, Disease & VariantsSourceGeneRif: 6606PubMedEurope PMCClin Chim Acta 530:45-49 (2022)Mapped to21