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10. Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals. Heesen L; Peitz M; Torres-Benito L; Hölker I; Hupperich K; Dobrindt K; Jungverdorben J; Ritzenhofen S; Weykopf B; Eckert D; Hosseini-Barkooie SM; Storbeck M; Fusaki N; Lonigro R; Heller R; Kye MJ; Brüstle O; Wirth B Cell Mol Life Sci; 2016 May; 73(10):2089-104. PubMed ID: 26573968 [TBL] [Abstract][Full Text] [Related]
11. ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy. Kannan A; Jiang X; He L; Ahmad S; Gangwani L Brain; 2020 Jan; 143(1):69-93. PubMed ID: 31828288 [TBL] [Abstract][Full Text] [Related]
12. Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings. Yener İH; Topaloglu H; Erdem-Özdamar S; Dayangac-Erden D Pediatr Int; 2017 Jan; 59(1):53-56. PubMed ID: 27279027 [TBL] [Abstract][Full Text] [Related]
13. SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy. See K; Yadav P; Giegerich M; Cheong PS; Graf M; Vyas H; Lee SG; Mathavan S; Fischer U; Sendtner M; Winkler C Hum Mol Genet; 2014 Apr; 23(7):1754-70. PubMed ID: 24218366 [TBL] [Abstract][Full Text] [Related]
14. Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy. Cobb MS; Rose FF; Rindt H; Glascock JJ; Shababi M; Miller MR; Osman EY; Yen PF; Garcia ML; Martin BR; Wetz MJ; Mazzasette C; Feng Z; Ko CP; Lorson CL Hum Mol Genet; 2013 May; 22(9):1843-55. PubMed ID: 23390132 [TBL] [Abstract][Full Text] [Related]
15. Survival motor neuron affects plastin 3 protein levels leading to motor defects. Hao le T; Wolman M; Granato M; Beattie CE J Neurosci; 2012 Apr; 32(15):5074-84. PubMed ID: 22496553 [TBL] [Abstract][Full Text] [Related]
16. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Hua Y; Sahashi K; Rigo F; Hung G; Horev G; Bennett CF; Krainer AR Nature; 2011 Oct; 478(7367):123-6. PubMed ID: 21979052 [TBL] [Abstract][Full Text] [Related]
17. 5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells. Yuo CY; Lin HH; Chang YS; Yang WK; Chang JG Ann Neurol; 2008 Jan; 63(1):26-34. PubMed ID: 17924536 [TBL] [Abstract][Full Text] [Related]
18. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Ruhno C; McGovern VL; Avenarius MR; Snyder PJ; Prior TW; Nery FC; Muhtaseb A; Roggenbuck JS; Kissel JT; Sansone VA; Siranosian JJ; Johnstone AJ; Nwe PH; Zhang RZ; Swoboda KJ; Burghes AHM Hum Genet; 2019 Mar; 138(3):241-256. PubMed ID: 30788592 [TBL] [Abstract][Full Text] [Related]
19. SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Riessland M; Ackermann B; Förster A; Jakubik M; Hauke J; Garbes L; Fritzsche I; Mende Y; Blumcke I; Hahnen E; Wirth B Hum Mol Genet; 2010 Apr; 19(8):1492-506. PubMed ID: 20097677 [TBL] [Abstract][Full Text] [Related]
20. Combinatorial ASO-mediated therapy with low dose SMN and the protective modifier Chp1 is not sufficient to ameliorate SMA pathology hallmarks. Muinos-Bühl A; Rombo R; Janzen E; Ling KK; Hupperich K; Rigo F; Bennett CF; Wirth B Neurobiol Dis; 2022 Sep; 171():105795. PubMed ID: 35724821 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]