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Items: 1 to 20 of 31

1.
Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons
Federica Rizzo, Monica Nizzardo, Shikha Vashisht, Erika Molteni, Valentina Melzi, Michela Taiana, Sabrina Salani, Pamela Santonicola, Elia Di Schiavi, Monica Bucchia, Andreina Bordoni, Irene Faravelli, Nereo Bresolin, Giacomo Pietro Comi, Uberto Pozzoli, Stefania Corti
Brain. 2019 Feb; 142(2): 276–294. Published online 2019 Jan 15. doi: 10.1093/brain/awy330
Correction in:
Brain. 2019 May; 142(5): e20.
PMCID:
PMC6351774
AbstractArticlePDF–1.5M
2.
Automated Screening of C. elegans Neurodegeneration Mutants Enabled by Microfluidics and Image Analysis Algorithms
Ivan de Carlos Cáceres, Daniel A. Porto, Ivan Gallotta, Pamela Santonicola, Josue Rodríguez-Cordero, Elia Di Schiavi, Hang Lu
Integr Biol (Camb) Author manuscript; available in PMC 2019 Sep 17.
Published in final edited form as: Integr Biol (Camb). 2018 Sep 17; 10(9): 539–548. doi: 10.1039/c8ib00091c
PMCID:
PMC6193809
AbstractArticlePDF–891K
3.
Decreased function of survival motor neuron protein impairs endocytic pathways
Maria Dimitriadi, Aaron Derdowski, Geetika Kalloo, Melissa S. Maginnis, Patrick O’Hern, Bryn Bliska, Altar Sorkaç, Ken C. Q. Nguyen, Steven J. Cook, George Poulogiannis, Walter J. Atwood, David H. Hall, Anne C. Hart
Proc Natl Acad Sci U S A. 2016 Jul 26; 113(30): E4377–E4386. Published online 2016 Jul 11. doi: 10.1073/pnas.1600015113
PMCID:
PMC4968725
AbstractArticlePDF–1.2M
4.
Spinal Muscular Atrophy and a Model for Survival of Motor Neuron Protein Function in Axonal Ribonucleoprotein Complexes
Wilfried Rossoll, Gary J. Bassell
Results Probl Cell Differ. Author manuscript; available in PMC 2013 Jul 22.
Published in final edited form as: Results Probl Cell Differ. 2009; 48: 289–326. doi: 10.1007/400_2009_4
PMCID:
PMC3718852
AbstractArticlePDF–923K
5.
The Neuroprotective Drug Riluzole Acts via Small Conductance Ca2+-Activated K+ Channels to Ameliorate Defects in Spinal Muscular Atrophy Models
Maria Dimitriadi, Min Jeong Kye, Geetika Kalloo, Jill M. Yersak, Mustafa Sahin, Anne C. Hart
J Neurosci. 2013 Apr 10; 33(15): 6557–6562. doi: 10.1523/JNEUROSCI.1536-12.2013
PMCID:
PMC3652322
AbstractArticlePDF–693K
6.
The survival motor neuron gene smn-1 interacts with the U2AF large subunit gene uaf-1 to regulate Caenorhabditis elegans lifespan and motor functions
Xiaoyang Gao, Yanling Teng, Jintao Luo, Liange Huang, Min Li, Zhuohua Zhang, Yong-Chao Ma, Long Ma
RNA Biol. 2014 Sep; 11(9): 1148–1160. Published online 2014 Oct 31. doi: 10.4161/rna.36100
PMCID:
PMC4615316
AbstractArticlePDF–1018K
7.
Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan
Michael Briese, Behrooz Esmaeili, Sandrine Fraboulet, Emma C. Burt, Stefanos Christodoulou, Paula R. Towers, Kay E. Davies, David B. Sattelle
Hum Mol Genet. 2009 Jan 1; 18(1): 97–104. Published online 2008 Oct 1. doi: 10.1093/hmg/ddn320
PMCID:
PMC2644645
AbstractArticlePDF–714K
8.
An in vivo genetic screen for genes involved in spliced leader trans-splicing indicates a crucial role for continuous de novo spliced leader RNP assembly
Lucas Philippe, George C. Pandarakalam, Rotimi Fasimoye, Neale Harrison, Bernadette Connolly, Jonathan Pettitt, Berndt Müller
Nucleic Acids Res. 2017 Aug 21; 45(14): 8474–8483. Published online 2017 Jun 5. doi: 10.1093/nar/gkx500
PMCID:
PMC5737717
AbstractArticlePDF–4.0M
9.
The secreted MSP domain of C. elegans VAPB homolog VPR-1 patterns the adult striated muscle mitochondrial reticulum via SMN-1
Jessica Schultz, Se-Jin Lee, Tim Cole, Hieu D. Hoang, Jack Vibbert, Pauline A. Cottee, Michael A. Miller, Sung Min Han
Development. 2017 Jun 15; 144(12): 2175–2186. doi: 10.1242/dev.152025
PMCID:
PMC5482996
AbstractArticle
10.
Neuron-specific knock-down of SMN1 causes neuron degeneration and death through an apoptotic mechanism
Ivan Gallotta, Nadia Mazzarella, Alessandra Donato, Alessandro Esposito, Justin C. Chaplin, Silvana Castro, Giuseppina Zampi, Giorgio S. Battaglia, Massimo A. Hilliard, Paolo Bazzicalupo, Elia Di Schiavi
Hum Mol Genet. 2016 Jun 15; 25(12): 2564–2577. Published online 2016 Jun 3. doi: 10.1093/hmg/ddw119
PMCID:
PMC5181630
AbstractArticlePDF–973K
11.
Impairment of the neurotrophic signaling hub B-Raf contributes to motoneuron degeneration in spinal muscular atrophy
Niko Hensel, Federica Cieri, Pamela Santonicola, Ines Tapken, Tobias Schüning, Michela Taiana, Elisa Pagliari, Antonia Joseph, Silke Fischer, Natascha Heidrich, Hella Brinkmann, Sabrina Kubinski, Anke K. Bergmann, Manuela F. Richter, Klaus Jung, Stefania Corti, Elia Di Schiavi, Peter Claus
Proc Natl Acad Sci U S A. 2021 May 4; 118(18): e2007785118. Published online 2021 Apr 30. doi: 10.1073/pnas.2007785118
PMCID:
PMC8106332
AbstractArticlePDF–2.4M
12.
Functional characterization of SMN evolution in mouse models of SMA
Erkan Y. Osman, Madeline R. Bolding, Eric Villalón, Kevin A. Kaifer, Zachary C. Lorson, Sarah Tisdale, Yue Hao, Gavin C. Conant, J. Chris Pires, Livio Pellizzoni, Christian L. Lorson
Sci Rep. 2019; 9: 9472. Published online 2019 Jul 1. doi: 10.1038/s41598-019-45822-8
PMCID:
PMC6603021
AbstractArticlePDF–3.6M
13.
The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein
Deborah Y. Kwon, Maria Dimitriadi, Barbara Terzic, Casey Cable, Anne C. Hart, Ajay Chitnis, Kenneth H. Fischbeck, Barrington G. Burnett
Mol Biol Cell. 2013 Jun 15; 24(12): 1863–1871. doi: 10.1091/mbc.E13-01-0042
PMCID:
PMC3681692
AbstractArticlePDF–1.1M
14.
Decreased microRNA levels lead to deleterious increases in neuronal M2 muscarinic receptors in Spinal Muscular Atrophy models
Patrick J O'Hern, Inês do Carmo G. Gonçalves, Johanna Brecht, Eduardo Javier López Soto, Jonah Simon, Natalie Chapkis, Diane Lipscombe, Min Jeong Kye, Anne C Hart
eLife. 2017; 6: e20752. Published online 2017 May 2. doi: 10.7554/eLife.20752
PMCID:
PMC5413352
AbstractArticlePDF–4.4M
15.
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis
Markus Riessland, Anna Kaczmarek, Svenja Schneider, Kathryn J. Swoboda, Heiko Löhr, Cathleen Bradler, Vanessa Grysko, Maria Dimitriadi, Seyyedmohsen Hosseinibarkooie, Laura Torres-Benito, Miriam Peters, Aaradhita Upadhyay, Nasim Biglari, Sandra Kröber, Irmgard Hölker, Lutz Garbes, Christian Gilissen, Alexander Hoischen, Gudrun Nürnberg, Peter Nürnberg, Michael Walter, Frank Rigo, C. Frank Bennett, Min Jeong Kye, Anne C. Hart, Matthias Hammerschmidt, Peter Kloppenburg, Brunhilde Wirth
Am J Hum Genet. 2017 Feb 2; 100(2): 297–315. Published online 2017 Jan 26. doi: 10.1016/j.ajhg.2017.01.005
PMCID:
PMC5294679
AbstractArticlePDF–3.1M
16.
TGS1 impacts snRNA 3′-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegeneration
Lu Chen, Caitlin M Roake, Paolo Maccallini, Francesca Bavasso, Roozbeh Dehghannasiri, Pamela Santonicola, Natalia Mendoza-Ferreira, Livia Scatolini, Ludovico Rizzuti, Alessandro Esposito, Ivan Gallotta, Sofia Francia, Stefano Cacchione, Alessandra Galati, Valeria Palumbo, Marie A Kobin, Gian Gaetano Tartaglia, Alessio Colantoni, Gabriele Proietti, Yunming Wu, Matthias Hammerschmidt, Cristiano De Pittà, Gabriele Sales, Julia Salzman, Livio Pellizzoni, Brunhilde Wirth, Elia Di Schiavi, Maurizio Gatti, Steven E Artandi, Grazia D Raffa
Nucleic Acids Res. 2022 Nov 28; 50(21): 12400–12424. Published online 2022 Aug 10. doi: 10.1093/nar/gkac659
Correction in:
Nucleic Acids Res. 2022 Nov 28; 50(21): 12596.
PMCID:
PMC9757054
AbstractArticlePDF–5.3M
17.
Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy
Melissa B. Walsh, Eva Janzen, Emily Wingrove, Seyyedmohsen Hosseinibarkooie, Natalia Rodriguez Muela, Lance Davidow, Maria Dimitriadi, Erika M. Norabuena, Lee L. Rubin, Brunhilde Wirth, Anne C. Hart
BMC Biol. 2020; 18: 127. Published online 2020 Sep 16. doi: 10.1186/s12915-020-00845-w
PMCID:
PMC7495824
AbstractArticlePDF–1.8M
18.
A novel, essential trans-splicing protein connects the nematode SL1 snRNP to the CBC-ARS2 complex
Rotimi Yemi Fasimoye, Rosie Elizabeth Barker Spencer, Eva Soto-Martin, Peter Eijlers, Haitem Elmassoudi, Sarah Brivio, Carolina Mangana, Viktorija Sabele, Radoslava Rechtorikova, Marius Wenzel, Bernadette Connolly, Jonathan Pettitt, Berndt Müller
Nucleic Acids Res. 2022 Jul 22; 50(13): 7591–7607. Published online 2022 Jun 23. doi: 10.1093/nar/gkac534
PMCID:
PMC9303266
AbstractArticlePDF–5.5M
19.
Sm protein down-regulation leads to defects in nuclear pore complex disassembly and distribution in C. elegans embryos
Daphna Joseph-Strauss, Mátyás Gorjánácz, Rachel Santarella-Mellwig, Ekaterina Voronina, Anjon Audhya, Orna Cohen-Fix
Dev Biol. Author manuscript; available in PMC 2013 May 15.
Published in final edited form as: Dev Biol. 2012 May 15; 365(2): 445–457. Published online 2012 Mar 8. doi: 10.1016/j.ydbio.2012.02.036
PMCID:
PMC3337357
AbstractArticlePDF–3.2M
20.
PETISCO is a novel protein complex required for 21U RNA biogenesis and embryonic viability
Ricardo J. Cordeiro Rodrigues, António Miguel de Jesus Domingues, Svenja Hellmann, Sabrina Dietz, Bruno F.M. de Albuquerque, Christian Renz, Helle D. Ulrich, Peter Sarkies, Falk Butter, René F. Ketting
Genes Dev. 2019 Jul 1; 33(13-14): 857–870. doi: 10.1101/gad.322446.118
PMCID:
PMC6601512
AbstractArticlePDF–15M

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