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Items: 1 to 20 of 271

1.
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration
Tyler R. Fortuna, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Anixa Muiños-Bühl, Eric N. Anderson, Charlie H. Nelson, IV, Caroline Ward, Om Chauhan, Casey O’Brien, Dhivyaa Rajasundaram, Deepa S. Rajan, Brunhilde Wirth, Amit Singh, Udai Bhan Pandey
Acta Neuropathol. Author manuscript; available in PMC 2024 Aug 27.
Published in final edited form as: Acta Neuropathol. 2023 Sep; 146(3): 477–498. Published online 2023 Jun 27. doi: 10.1007/s00401-023-02607-8
PMCID:
PMC11348892
AbstractArticlePDF–4.0M
2.
Antagonistic roles of canonical and alternative-RPA in disease-associated tandem CAG repeat instability
Terence Gall-Duncan, Jennifer Luo, Carla-Marie Jurkovic, Laura A. Fischer, Kyota Fujita, Amit L. Deshmukh, Rachel J. Harding, Stephanie Tran, Mustafa Mehkary, Vanessa Li, David E. Leib, Ran Chen, Hikari Tanaka, Amanda G. Mason, Dominique Lévesque, Mahreen Khan, Mortezaali Razzaghi, Tanya Prasolava, Stella Lanni, Nozomu Sato, Marie-Christine Caron, Gagan B. Panigrahi, Peixiang Wang, Rachel Lau, Arturo López Castel, Jean-Yves Masson, Lynette Tippett, Clinton Turner, Maria Spies, Albert R. La Spada, Eric I. Campos, Maurice A. Curtis, François-Michel Boisvert, Richard L.M. Faull, Beverly L. Davidson, Masayuki Nakamori, Hitoshi Okazawa, Marc S. Wold, Christopher E. Pearson
Cell. Author manuscript; available in PMC 2024 Oct 26.
Published in final edited form as: Cell. 2023 Oct 26; 186(22): 4898–4919.e25. Published online 2023 Oct 11. doi: 10.1016/j.cell.2023.09.008
PMCID:
PMC11209935
AbstractArticlePDF–3.0M
3.
Genome-wide CRISPR screens identify novel regulators of wild-type and mutant p53 stability
YiQing Lü, Tiffany Cho, Saptaparna Mukherjee, Carmen Florencia Suarez, Nicolas S Gonzalez-Foutel, Ahmad Malik, Sebastien Martinez, Dzana Dervovic, Robin Hyunseo Oh, Ellen Langille, Khalid N Al-Zahrani, Lisa Hoeg, Zhen Yuan Lin, Ricky Tsai, Geraldine Mbamalu, Varda Rotter, Patricia Ashton-Prolla, Jason Moffat, Lucia Beatriz Chemes, Anne-Claude Gingras, Moshe Oren, Daniel Durocher, Daniel Schramek
Mol Syst Biol. 2024 Jun; 20(6): 719–740. Published online 2024 Apr 5. doi: 10.1038/s44320-024-00032-x
PMCID:
PMC11148184
AbstractArticlePDF–8.1M
4.
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals
Ludwig Heesen, Michael Peitz, Laura Torres-Benito, Irmgard Hölker, Kristina Hupperich, Kristina Dobrindt, Johannes Jungverdorben, Swetlana Ritzenhofen, Beatrice Weykopf, Daniela Eckert, Seyyed Mohsen Hosseini-Barkooie, Markus Storbeck, Noemi Fusaki, Renata Lonigro, Raoul Heller, Min Jeong Kye, Oliver Brüstle, Brunhilde Wirth
Cell Mol Life Sci. 2016 May; 73(10): 2089–2104. Published online 2015 Nov 16. doi: 10.1007/s00018-015-2084-y
PMCID:
PMC11108513
AbstractArticlePDF–10M
5.
SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy
Valeria Valsecchi, Francesco Errico, Valentina Bassareo, Carmen Marino, Tommaso Nuzzo, Paola Brancaccio, Giusy Laudati, Antonella Casamassa, Manuela Grimaldi, Adele D’Amico, Manolo Carta, Enrico Bertini, Giuseppe Pignataro, Anna Maria D’Ursi, Alessandro Usiello
Commun Biol. 2023; 6: 1155. Published online 2023 Nov 13. doi: 10.1038/s42003-023-05543-1
PMCID:
PMC10643621
AbstractArticlePDF–6.3M
6.
C9orf72 protein quality control by UBR5‐mediated heterotypic ubiquitin chains
Julia Jülg, Dieter Edbauer, Christian Behrends
EMBO Rep. 2023 Aug; 24(8): e55895. Published online 2023 Jun 15. doi: 10.15252/embr.202255895
PMCID:
PMC10398660
AbstractArticlePDF–2.4M
7.
The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers
Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, David R Mowat, Kristi J Jones, Edwin P Kirk, Didu Kariyawasam, Michelle Farrar, Arlene D’Silva
Genes (Basel) 2023 Jul; 14(7): 1403. Published online 2023 Jul 6. doi: 10.3390/genes14071403
PMCID:
PMC10379112
AbstractArticlePDF–1.5M
8.
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen
Selena Trifunov, Daniel Natera-de Benito, Laura Carrera-García, Anna Codina, Jesica Expósito-Escudero, Carlos Ortez, Julita Medina, Soraya Torres Alcala, Sara Bernal, Laura Alias, Carmen Badosa, Sol Balsells, Daniel Alcolea, Andres Nascimento, Cecilia Jimenez-Mallebrera
J Neuromuscul Dis. 2023; 10(4): 653–665. Prepublished online 2023 Apr 5. Published online 2023 Jul 4. doi: 10.3233/JND-230012
PMCID:
PMC10357204
AbstractArticlePDF–475K
9.
Targeting USP10 induces degradation of oncogenic ANLN in esophageal squamous cell carcinoma
Yu-Fei Cao, Lei Xie, Bei-Bei Tong, Man-Yu Chu, Wen-Qi Shi, Xiang Li, Jian-Zhong He, Shao-Hong Wang, Zhi-Yong Wu, Dan-Xia Deng, Ya-Qi Zheng, Zhi-Mao Li, Xiu-E Xu, Lian-Di Liao, Yin-Wei Cheng, Li-Yan Li, Li-Yan Xu, En-Min Li
Cell Death Differ. 2023 Feb; 30(2): 527–543. Published online 2022 Dec 16. doi: 10.1038/s41418-022-01104-x
PMCID:
PMC9950447
AbstractArticlePDF–8.4M
10.
SMN Deficiency Destabilizes ABCA1 Expression in Human Fibroblasts: Novel Insights in Pathophysiology of Spinal Muscular Atrophy
Francesca Gabanella, Annalisa Onori, Cinzia Pisani, Marco Fiore, Giampiero Ferraguti, Andrea Colizza, Marco de Vincentiis, Marco Ceccanti, Maurizio Inghilleri, Nicoletta Corbi, Claudio Passananti, Maria Grazia Di Certo
Int J Mol Sci. 2023 Feb; 24(3): 2916. Published online 2023 Feb 2. doi: 10.3390/ijms24032916
PMCID:
PMC9917534
AbstractArticlePDF–2.4M
11.
The RNA-Binding Protein SMN as a Novel Player in Laryngeal Squamous Cell Carcinoma
Francesca Gabanella, Andrea Colizza, Maria Chiara Mottola, Silvia Francati, Giovanna Blaconà, Carla Petrella, Christian Barbato, Antonio Greco, Massimo Ralli, Marco Fiore, Nicoletta Corbi, Giampiero Ferraguti, Alessandro Corsi, Antonio Minni, Marco de Vincentiis, Claudio Passananti, Maria Grazia Di Certo
Int J Mol Sci. 2023 Jan; 24(2): 1794. Published online 2023 Jan 16. doi: 10.3390/ijms24021794
PMCID:
PMC9864193
AbstractArticlePDF–6.3M
12.
SMN promotes mitochondrial metabolic maturation during myogenesis by regulating the MYOD-miRNA axis
Akihiro Ikenaka, Yohko Kitagawa, Michiko Yoshida, Chuang-Yu Lin, Akira Niwa, Tatsutoshi Nakahata, Megumu K Saito
Life Sci Alliance. 2023 Mar; 6(3): e202201457. Published online 2023 Jan 5. doi: 10.26508/lsa.202201457
PMCID:
PMC9834662
AbstractArticlePDF–4.2M
13.
HDLBP Promotes Hepatocellular Carcinoma Proliferation and Sorafenib Resistance by Suppressing Trim71-dependent RAF1 Degradation
Jingsheng Yuan, Tao Lv, Jian Yang, Zhenru Wu, Lvnan Yan, Jiayin Yang, Yujun Shi, Li Jiang
Cell Mol Gastroenterol Hepatol. 2023; 15(2): 307–325. Published online 2022 Oct 14. doi: 10.1016/j.jcmgh.2022.10.005
PMCID:
PMC9772558
AbstractArticlePDF–8.2M
14.
A whole genome CRISPR screen identifies AHR loss as a mechanism of resistance to a PARP7 inhibitor
Huadong Chen, Morgan E. Diolaiti, Patrick C. O’Leary, Ajda Rojc, Nevan J. Krogan, Minkyu Kim, Alan Ashworth
Mol Cancer Ther. Author manuscript; available in PMC 2023 Jan 5.
Published in final edited form as: Mol Cancer Ther. 2022 Jul 5; 21(7): 1076–1089. doi: 10.1158/1535-7163.MCT-21-0841
PMCID:
PMC9769698
AbstractArticlePDF–2.7M
15.
SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members
Olivier Binda, Franceline Juillard, Julia Novion Ducassou, Constance Kleijwegt, Geneviève Paris, Andréanne Didillon, Faouzi Baklouti, Armelle Corpet, Yohann Couté, Jocelyn Côté, Patrick Lomonte
Life Sci Alliance. 2023 Jan; 6(1): e202201429. Published online 2022 Nov 14. doi: 10.26508/lsa.202201429
PMCID:
PMC9684302
AbstractArticlePDF–2.2M
16.
SARS-CoV-2 Nsp6 damages Drosophila heart and mouse cardiomyocytes through MGA/MAX complex-mediated increased glycolysis
Jun-yi Zhu, Guanglei Wang, Xiaohu Huang, Hangnoh Lee, Jin-Gu Lee, Penghua Yang, Joyce van de Leemput, Weiliang Huang, Maureen A. Kane, Peixin Yang, Zhe Han
Commun Biol. 2022; 5: 1039. Published online 2022 Sep 30. doi: 10.1038/s42003-022-03986-6
PMCID:
PMC9523645
AbstractArticlePDF–3.9M
17.
ALS-linked loss of Cyclin-F function affects HSP90
Alexander Siebert, Vanessa Gattringer, Jochen H Weishaupt, Christian Behrends
Life Sci Alliance. 2022 Dec; 5(12): e202101359. Published online 2022 Sep 16. doi: 10.26508/lsa.202101359
PMCID:
PMC9481933
AbstractArticlePDF–3.5M
18.
Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on Survival Motor Neuron 2 (SMN2) mRNA Splicing and Expression
Sambee Kanda, Emily Moulton, Matthew E.R. Butchbach
Mol Pharmacol. 2022 Aug; 102(2): 92–105. Published online 2022 Aug. doi: 10.1124/molpharm.122.000529
PMCID:
PMC9341265
AbstractArticlePDF–2.0M
19.
Internal Introns Promote Backsplicing to Generate Circular RNAs from Spinal Muscular Atrophy Gene
Diou Luo, Natalia Nikolaevna Singh, Ravindra Narayan Singh
Genes (Basel) 2022 Jul; 13(7): 1145. Published online 2022 Jun 25. doi: 10.3390/genes13071145
PMCID:
PMC9323214
AbstractArticlePDF–3.5M
20.
Combinatorial targeting of a chromatin complex comprising Dot1L, menin and the tyrosine kinase BAZ1B reveals a new therapeutic vulnerability of endocrine therapy-resistant breast cancer
Annamaria Salvati, Viola Melone, Assunta Sellitto, Francesca Rizzo, Roberta Tarallo, Tuula A. Nyman, Giorgio Giurato, Giovanni Nassa, Alessandro Weisz
Breast Cancer Res. 2022; 24: 52. Published online 2022 Jul 18. doi: 10.1186/s13058-022-01547-7
PMCID:
PMC9290241
AbstractArticlePDF–8.2M

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