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Select item 113488921.

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

Abstract Article PDF–4.0M

Select item 112099352.

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

Abstract Article PDF–3.0M

Select item 111085133.

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

Abstract Article PDF–10M

Select item 106436214.

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

Abstract Article PDF–6.3M

Select item 103986605.

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

Abstract Article PDF–2.4M

Select item 103791126.

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

Abstract Article PDF–1.5M

Select item 103572047.

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

Abstract Article PDF–475K

Select item 99504478.

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

Abstract Article PDF–8.4M

Select item 99175349.

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

Abstract Article PDF–2.4M

Select item 986419310.

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

Abstract Article PDF–6.3M

Select item 983466211.

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

Abstract Article PDF–4.2M

Select item 977255812.

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

Abstract Article PDF–8.2M

Select item 976969813.

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

Abstract Article PDF–2.7M

Select item 968430214.

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

Abstract Article PDF–2.2M

Select item 952364515.

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

Abstract Article PDF–3.9M

Select item 948193316.

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

Abstract Article PDF–3.5M

Select item 932321417.

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

Abstract Article PDF–3.5M

Select item 929024118.

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

Abstract Article PDF–8.2M

Select item 911973619.

OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization

Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti

Science. Author manuscript; available in PMC 2022 Sep 11.

Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983

PMCID:: PMC9119736

Abstract Article PDF–3.3M

Select item 910523520.

Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling

Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser

Int J Mol Sci. 2022 May; 23(9): 5151. Published online 2022 May 5. doi: 10.3390/ijms23095151

PMCID:: PMC9105235

Abstract Article PDF–5.8M

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