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Items: 1 to 20 of 136

1.
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
2.
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
3.
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
4.
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
5.
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
AbstractArticlePDF–3.3M
6.
High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts
Yogik Onky Silvana Wijaya, Emma Tabe Eko Niba, Hisahide Nishio, Kentaro Okamoto, Hiroyuki Awano, Toshio Saito, Yasuhiro Takeshima, Masakazu Shinohara
Genes (Basel) 2022 Apr; 13(4): 685. Published online 2022 Apr 13. doi: 10.3390/genes13040685
PMCID:
PMC9027857
AbstractArticlePDF–4.2M
7.
Systematic characterization of short intronic splicing-regulatory elements in SMN2 pre-mRNA
Yuan Gao, Kuan-Ting Lin, Tao Jiang, Yang Yang, Mohammad A Rahman, Shuaishuai Gong, Jialin Bai, Li Wang, Junjie Sun, Lei Sheng, Adrian R Krainer, Yimin Hua
Nucleic Acids Res. 2022 Jan 25; 50(2): 731–749. Published online 2022 Jan 8. doi: 10.1093/nar/gkab1280
PMCID:
PMC8789036
AbstractArticlePDF–8.7M
8.
Interactome Analysis of the Nucleocapsid Protein of SARS-CoV-2 Virus
Xiaoqin Zheng, Zeyu Sun, Liang Yu, Danrong Shi, Miaojin Zhu, Hangping Yao, Lanjuan Li
Pathogens. 2021 Sep; 10(9): 1155. Published online 2021 Sep 8. doi: 10.3390/pathogens10091155
PMCID:
PMC8465953
AbstractArticlePDF–1.7M
9.
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy
Mar Costa-Roger, Laura Blasco-Pérez, Ivon Cuscó, Eduardo F. Tizzano
Int J Mol Sci. 2021 Aug; 22(16): 9029. Published online 2021 Aug 21. doi: 10.3390/ijms22169029
PMCID:
PMC8396600
AbstractArticlePDF–1.2M
10.
Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer
Athea Vichas, Amanda K. Riley, Naomi T. Nkinsi, Shriya Kamlapurkar, Phoebe C. R. Parrish, April Lo, Fujiko Duke, Jennifer Chen, Iris Fung, Jacqueline Watson, Matthew Rees, Austin M. Gabel, James D. Thomas, Robert K. Bradley, John K. Lee, Emily M. Hatch, Marina K. Baine, Natasha Rekhtman, Marc Ladanyi, Federica Piccioni, Alice H. Berger
Nat Commun. 2021; 12: 4789. Published online 2021 Aug 9. doi: 10.1038/s41467-021-24841-y
PMCID:
PMC8352964
AbstractArticlePDF–4.5M
11.
Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development
Matthew E. R. Butchbach
Int J Mol Sci. 2021 Aug; 22(15): 7896. Published online 2021 Jul 23. doi: 10.3390/ijms22157896
PMCID:
PMC8348669
AbstractArticlePDF–1.5M
12.
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients
Laura Blasco‐Pérez, Ida Paramonov, Jordi Leno, Sara Bernal, Laura Alias, Pablo Fuentes‐Prior, Ivon Cuscó, Eduardo F. Tizzano
Hum Mutat. 2021 Jun; 42(6): 787–795. Published online 2021 Apr 6. doi: 10.1002/humu.24200
PMCID:
PMC8252042
AbstractArticlePDF–1.3M
13.
Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants
John N. Milligan, Jessica L. Larson, Stela Filipovic-Sadic, Walairat Laosinchai-Wolf, Ya-Wen Huang, Tsang-Ming Ko, Kristin M. Abbott, Henny H. Lemmink, Minna Toivonen, Johanna Schleutker, Caren Gentile, Vivianna M. Van Deerlin, Huiping Zhu, Gary J. Latham
J Mol Diagn. 2021 Jun; 23(6): 753–764. doi: 10.1016/j.jmoldx.2021.03.004
PMCID:
PMC8207472
AbstractArticlePDF–749K
14.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
15.
The Effect of SMN Gene Dosage on ALS Risk and Disease Severity
Matthieu Moisse, Ramona A. J. Zwamborn, Joke van Vugt, Rick van der Spek, Wouter van Rheenen, Brendan Kenna, Kristel Van Eijk, Kevin Kenna, Philippe Corcia, Philippe Couratier, Patrick Vourc'h, Orla Hardiman, Russell McLaughin, Marc Gotkine, Vivian Drory, Nicola Ticozzi, Vincenzo Silani, Mamede de Carvalho, Jesús S. Mora Pardina, Monica Povedano, Peter M. Andersen, Markus Weber, Nazli A. Başak, Xiao Chen, Michael A. Eberle, Ammar Al‐Chalabi, Chris Shaw, Pamela J. Shaw, Karen E. Morrison, John E. Landers, Jonathan D. Glass, Wim Robberecht, Michael van Es, Leonard van den Berg, Jan Veldink, Philip Van Damme, Project MinE Sequencing Consortium
Ann Neurol. 2021 Apr; 89(4): 686–697. Published online 2021 Jan 15. doi: 10.1002/ana.26009
PMCID:
PMC8048961
AbstractArticlePDF–2.0M
16.
Conditional deletion of SMN in cell culture identifies functional SMN alleles
Anton J Blatnik, III, Vicki L McGovern, Thanh T Le, Chitra C Iyer, Brian K Kaspar, Arthur H M Burghes
Hum Mol Genet. 2020 Nov 1; 29(21): 3477–3492. Published online 2020 Oct 19. doi: 10.1093/hmg/ddaa229
PMCID:
PMC7946624
AbstractArticlePDF–1.5M
17.
FBW7 suppresses ovarian cancer development by targeting the N6-methyladenosine binding protein YTHDF2
Fei Xu, Jiajia Li, Mengdong Ni, Jingyi Cheng, Haiyun Zhao, Shanshan Wang, Xiang Zhou, Xiaohua Wu
Mol Cancer. 2021; 20: 45. Published online 2021 Mar 3. doi: 10.1186/s12943-021-01340-8
PMCID:
PMC7927415
AbstractArticlePDF–2.9M
18.
Identification of SRSF10 as a regulator of SMN2 ISS-N1
Sabrina Brøner Frederiksen, Lise Lolle Holm, Martin R. Larsen, Thomas K. Doktor, Henriette S. Andersen, Michelle L. Hastings, Yimin Hua, Adrian R. Krainer, Brage S. Andresen
Hum Mutat. Author manuscript; available in PMC 2022 Mar 1.
Published in final edited form as: Hum Mutat. 2021 Mar; 42(3): 246–260. Published online 2020 Dec 16. doi: 10.1002/humu.24149
PMCID:
PMC7878440
AbstractArticlePDF–1.5M
19.
脊髓性肌萎缩症患儿SMN1和SMN2基因拷贝数与临床表型的相关性分析
章 印红, 张 云茜, 朱 宝生, 贺 静, 王 蕾, 唐 新华, 郭 晶晶, 靳 婵婵, 陈 红, 张 杰, 章 锦曼, 李 利
Zhongguo Dang Dai Er Ke Za Zhi. 2019 Mar 25; 21(3): 239–243. Chinese. doi: 10.7499/j.issn.1008-8830.2019.03.010
PMCID:
PMC7389366
AbstractArticlePDF–1.1M
20.
New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand?
Tai-Heng Chen
Int J Mol Sci. 2020 May; 21(9): 3297. Published online 2020 May 7. doi: 10.3390/ijms21093297
PMCID:
PMC7246502
AbstractArticlePDF–1.3M

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