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Spinal Muscular Atrophy.
Prior TW, Leach ME, Finanger E. Prior TW, et al. 2000 Feb 24 [updated 2020 Dec 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Feb 24 [updated 2020 Dec 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301526 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. ...The …
CLINICAL CHARACTERISTICS: Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degenerat …
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG).
Finkel RS, Darras BT, Mendell JR, Day JW, Kuntz NL, Connolly AM, Zaidman CM, Crawford TO, Butterfield RJ, Shieh PB, Tennekoon G, Brandsema JF, Iannaccone ST, Shoffner J, Kavanagh S, Macek TA, Tauscher-Wisniewski S. Finkel RS, et al. J Neuromuscul Dis. 2023;10(3):389-404. doi: 10.3233/JND-221560. J Neuromuscul Dis. 2023. PMID: 36911944 Free PMC article.
BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disorder arising from biallelic non-functional survival motor neuron 1 (SMN1) genes with variable copies of partially functional SMN2 gene. ...METHODS: Sitting, nonambulatory SMA patients (biallelic SMN1 …
BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disorder arising from biallelic non-functional survival motor neuron 1 (SMN1 …
Expanding the Availability of Onasemnogene Abeparvovec to Older Patients: The Evolving Treatment Landscape for Spinal Muscular Atrophy.
René CA, Parks RJ. René CA, et al. Pharmaceutics. 2023 Jun 19;15(6):1764. doi: 10.3390/pharmaceutics15061764. Pharmaceutics. 2023. PMID: 37376212 Free PMC article. Review.
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder caused by mutations in the survival of motor neuron 1 (SMN1) gene, which leads to a reduced level in the SMN protein within cells. Patients with SMA suffer from a loss of alpha motor neurons in th …
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder caused by mutations in the survival of motor neuron 1 (SMN1) ge …
Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy.
Reilly A, Yaworski R, Beauvais A, Schneider BL, Kothary R. Reilly A, et al. Hum Mol Genet. 2024 Feb 28;33(6):510-519. doi: 10.1093/hmg/ddad202. Hum Mol Genet. 2024. PMID: 38073249
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by motor neuron loss and skeletal muscle atrophy. SMA is caused by the loss of the SMN1 gene and low SMN protein levels. ...Surprisingly, both delivery routes resulted …
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by motor neuron loss and skeletal muscle …
Dual SMN inducing therapies can rescue survival and motor unit function in symptomatic ∆7SMA mice.
Kray KM, McGovern VL, Chugh D, Arnold WD, Burghes AHM. Kray KM, et al. Neurobiol Dis. 2021 Nov;159:105488. doi: 10.1016/j.nbd.2021.105488. Epub 2021 Aug 20. Neurobiol Dis. 2021. PMID: 34425216 Free PMC article.
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by survival motor neuron (SMN) protein deficiency which results in motor neuron loss and muscle atrophy. SMA is caused by a mutation or deletion of the survival motor neuron 1 (SMN1) gene …
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by survival motor neuron (SMN) protein deficiency which result …
SMN protein is required throughout life to prevent spinal muscular atrophy disease progression.
Zhao X, Feng Z, Risher N, Mollin A, Sheedy J, Ling KKY, Narasimhan J, Dakka A, Baird JD, Ratni H, Lutz C, Chen KS, Naryshkin NA, Ko CP, Welch E, Metzger F, Weetall M. Zhao X, et al. Hum Mol Genet. 2021 Dec 17;31(1):82-96. doi: 10.1093/hmg/ddab220. Hum Mol Genet. 2021. PMID: 34368854
Spinal muscular atrophy (SMA) is caused by the loss of the survival motor neuron 1 (SMN1) gene function. The related SMN2 gene partially compensates but produces insufficient levels of SMN protein due to alternative splicing of exon 7. ...To define SMN requirements …
Spinal muscular atrophy (SMA) is caused by the loss of the survival motor neuron 1 (SMN1) gene function. The related SMN2 gene …
Central and peripheral delivered AAV9-SMN are both efficient but target different pathomechanisms in a mouse model of spinal muscular atrophy.
Reilly A, Deguise MO, Beauvais A, Yaworski R, Thebault S, Tessier DR, Tabard-Cossa V, Hensel N, Schneider BL, Kothary R. Reilly A, et al. Gene Ther. 2022 Sep;29(9):544-554. doi: 10.1038/s41434-022-00338-1. Epub 2022 Apr 25. Gene Ther. 2022. PMID: 35462564
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by loss of the SMN1 gene and low SMN protein levels. Although lower motor neurons are a primary target, there is evidence that peripheral organ defects contribute to SMA. ...Surprisingly, both delivery …
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by loss of the SMN1 gene and low SMN protein levels. Although …
Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophy.
El-Khodor BF, Edgar N, Chen A, Winberg ML, Joyce C, Brunner D, Suárez-Fariñas M, Heyes MP. El-Khodor BF, et al. Exp Neurol. 2008 Jul;212(1):29-43. doi: 10.1016/j.expneurol.2008.02.025. Epub 2008 Mar 18. Exp Neurol. 2008. PMID: 18455159
Spinal muscular atrophy (SMA) is characterized by selective loss of alpha-motor neurons and is caused by homozygous loss or mutation in the survival motor neuron (SMN1) gene. Loss of SMN1 is partially compensated by the copy gene, SMN2. Currentl …
Spinal muscular atrophy (SMA) is characterized by selective loss of alpha-motor neurons and is caused by homozygous loss or mu …
Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice.
Dominguez E, Marais T, Chatauret N, Benkhelifa-Ziyyat S, Duque S, Ravassard P, Carcenac R, Astord S, Pereira de Moura A, Voit T, Barkats M. Dominguez E, et al. Hum Mol Genet. 2011 Feb 15;20(4):681-93. doi: 10.1093/hmg/ddq514. Epub 2010 Nov 30. Hum Mol Genet. 2011. PMID: 21118896
Loss of SMN1 leads to reduced SMN protein levels, inducing degeneration of motor neurons (MN) and progressive muscle weakness and atrophy. ...The systemic scAAV9 therapy mediated complete correction of motor function, prevented MN death and rescued the weight …
Loss of SMN1 leads to reduced SMN protein levels, inducing degeneration of motor neurons (MN) and progressive muscle weakness …
SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy.
Pagliarini V, Pelosi L, Bustamante MB, Nobili A, Berardinelli MG, D'Amelio M, Musarò A, Sette C. Pagliarini V, et al. J Cell Biol. 2015 Oct 12;211(1):77-90. doi: 10.1083/jcb.201502059. Epub 2015 Oct 5. J Cell Biol. 2015. PMID: 26438828 Free PMC article.
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. ...We found that knockout of the splicing factor SAM68 partially rescued body weight and viability of SMAdelta7 mice …
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the …
30 results