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Select item 110216111.

SPTLC2 variants are associated with early‐onset ALS and FTD due to aberrant sphingolipid synthesis

Hiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, Jun Mitsui, Wataru Satake, Peter Greimel, Nanoka Shingai, Yuka Machino, Yasumasa Kokubo, Hirotoshi Hamaguchi, Tetsuya Oda, Tomoko Ikkaku, Ichiro Yokota, Yuji Takahashi, Yuta Suzuki, Takashi Matsukawa, Jun Goto, Kishin Koh, Yoshihisa Takiyama, Shinichi Morishita, Takeo Yoshikawa, Shoji Tsuji, Tatsushi Toda

Ann Clin Transl Neurol. 2024 Apr; 11(4): 946–957. Published online 2024 Feb 5. doi: 10.1002/acn3.52013

PMCID:: PMC11021611

Abstract Article PDF–2.6M

Select item 109222882.

Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

Maike F. Dohrn, Danique Beijer, Museer A. Lone, Elif Bayraktar, Piraye Oflazer, Rotem Orbach, Sandra Donkervoort, A. Reghan Foley, Aubrey Rose, Michael Lyons, Raymond J. Louie, Kenneth Gable, Teresa Dunn, Sitong Chen, Matt C. Danzi, Matthis Synofzik, Carsten G. Bönnemann, A. Nazli Başak, Thorsten Hornemann, Stephan Züchner

J Neurol Neurosurg Psychiatry. Author manuscript; available in PMC 2024 Mar 8.

Published in final edited form as: J Neurol Neurosurg Psychiatry. 2024 Feb 14; 95(3): 201–205. Published online 2024 Feb 14. doi: 10.1136/jnnp-2023-332130

PMCID:: PMC10922288

Abstract Article PDF–848K

Select item 108507183.

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

Safoora B Syeda, Museer A Lone, Payam Mohassel, Sandra Donkervoort, Pinki Munot, Marcondes C França, Jr, Juan Eli Galarza-Brito, Matthias Eckenweiler, Alexander Asamoah, Kenneth Gable, Anirban Majumdar, Anke Schumann, Sita D Gupta, Arpita Lakhotia, Perry B Shieh, A Reghan Foley, Kelly E Jackson, Katherine R Chao, Thomas L Winder, Francesco Catapano, Lucy Feng, Janbernd Kirschner, Francesco Muntoni, Teresa M Dunn, Thorsten Hornemann, Carsten G Bönnemann

J Neurol Neurosurg Psychiatry. 2024 Feb; 95(2): 103–113. Published online 2023 Nov 24. doi: 10.1136/jnnp-2023-332132

PMCID:: PMC10850718

Abstract Article PDF–4.9M

Select item 106277864.

ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis

Alexandre Janer, Jordan L Morris, Michiel Krols, Hana Antonicka, Mari J Aaltonen, Zhen-Yuan Lin, Hanish Anand, Anne-Claude Gingras, Julien Prudent, Eric A Shoubridge

Life Sci Alliance. 2024 Jan; 7(1): e202302335. Published online 2023 Nov 6. doi: 10.26508/lsa.202302335

PMCID:: PMC10627786

Abstract Article PDF–5.2M

Select item 102374225.

TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing

Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan

Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233

PMCID:: PMC10237422

Abstract Article PDF–23M

Select item 101375656.

Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family

Lindsey M. Q. Wilson, Sadaf Saba, Jun Li, Lev Prasov, Jason M. L. Miller

Genes (Basel) 2023 Apr; 14(4): 931. Published online 2023 Apr 18. doi: 10.3390/genes14040931

PMCID:: PMC10137565

Abstract Article PDF–4.6M

Select item 100401227.

Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis

Chunyu Li, Yanbing Hou, Qianqian Wei, Junyu Lin, Zheng Jiang, Qirui Jiang, Tianmi Yang, Yi Xiao, Jingxuan Huang, Yangfan Cheng, Ruwei Ou, Kuncheng Liu, Xueping Chen, Wei Song, Bi Zhao, Ying Wu, Bei Cao, Yongping Chen, Huifang Shang

Hum Genomics. 2023; 17: 28. Published online 2023 Mar 25. doi: 10.1186/s40246-023-00479-3

PMCID:: PMC10040122

Abstract Article PDF–725K

Select item 99501838.

CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment

Daphne J. Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A. A. Demmers, Dick H. W. Dekkers, Antonio Romito, Peter J. van der Spek, Tjakko J. van Ham, Aida M. Bertoli-Avella, Grazia M. S. Mancini

Hum Genet. 2023; 142(3): 379–397. Published online 2022 Dec 20. doi: 10.1007/s00439-022-02511-3

PMCID:: PMC9950183

Abstract Article PDF–2.4M

Select item 98125319.

Structural insights into the regulation of human serine palmitoyltransferase complexes

Yingdi Wang, Yiming Niu, Zhe Zhang, Kenneth Gable, Sita D. Gupta, Niranjanakumari Somashekarappa, Gongshe Han, Hongtu Zhao, Alexander Myasnikov, Ravi Kalathur, Teresa M. Dunn, Chia-Hsueh Lee

Nat Struct Mol Biol. Author manuscript; available in PMC 2023 Jan 4.

Published in final edited form as: Nat Struct Mol Biol. 2021 Mar; 28(3): 240–248. Published online 2021 Feb 8. doi: 10.1038/s41594-020-00551-9

PMCID:: PMC9812531

Abstract Article PDF–6.5M

Select item 952364510.

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 948193311.

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 923162312.

ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1

Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen

Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119

PMCID:: PMC9231623

Abstract Article PDF–6.0M

Select item 911973613.

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 910523514.

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

Select item 905883615.

The involvement of Parkin-dependent mitophagy in the anti-cancer activity of Ginsenoside

Xin Sun, Yeting Hong, Yuhan Shu, Caixia Wu, Guiqin Ye, Hanxiao Chen, Hongying Zhou, Ruilan Gao, Jianbin Zhang

J Ginseng Res. 2022 Mar; 46(2): 266–274. Published online 2021 Jul 8. doi: 10.1016/j.jgr.2021.06.009

PMCID:: PMC9058836

Abstract Article PDF–2.9M

Select item 904055616.

A protein interaction landscape of breast cancer

Minkyu Kim, Jisoo Park, Mehdi Bouhaddou, Kyumin Kim, Ajda Rojc, Maya Modak, Margaret Soucheray, Michael J. McGregor, Patrick O’Leary, Denise Wolf, Erica Stevenson, Tzeh Keong Foo, Dominique Mitchell, Kari A. Herrington, Denise P. Muñoz, Beril Tutuncuoglu, Kuei-Ho Chen, Fan Zheng, Jason F. Kreisberg, Morgan E. Diolaiti, John D. Gordan, Jean-Philippe Coppé, Danielle L. Swaney, Bing Xia, Laura van ’t Veer, Alan Ashworth, Trey Ideker, Nevan Krogan

Science. Author manuscript; available in PMC 2022 Apr 26.

Published in final edited form as: Science. 2021 Oct; 374(6563): eabf3066. Published online 2021 Oct 1. doi: 10.1126/science.abf3066

PMCID:: PMC9040556

Abstract Article PDF–2.2M

Select item 895155617.

A BioID-Derived Proximity Interactome for SARS-CoV-2 Proteins

Danielle G. May, Laura Martin-Sancho, Valesca Anschau, Sophie Liu, Rachel J. Chrisopulos, Kelsey L. Scott, Charles T. Halfmann, Ramon Díaz Peña, Dexter Pratt, Alexandre R. Campos, Kyle J. Roux

Viruses. 2022 Mar; 14(3): 611. Published online 2022 Mar 15. doi: 10.3390/v14030611

PMCID:: PMC8951556

Abstract Article PDF–4.4M

Select item 889702218.

Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy

Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang

Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003

PMCID:: PMC8897022

Abstract Article PDF–3.0M

Select item 889438019.

A multi-factor trafficking site on the spliceosome remodeling enzyme BRR2 recruits C9ORF78 to regulate alternative splicing

Alexandra Bergfort, Marco Preußner, Benno Kuropka, İbrahim Avşar Ilik, Tarek Hilal, Gert Weber, Christian Freund, Tuğçe Aktaş, Florian Heyd, Markus C. Wahl

Nat Commun. 2022; 13: 1132. Published online 2022 Mar 3. doi: 10.1038/s41467-022-28754-2

PMCID:: PMC8894380

Abstract Article PDF–5.6M

Select item 855290720.

SARS‐CoV‐2–host proteome interactions for antiviral drug discovery

Xiaonan Liu, Sini Huuskonen, Tuomo Laitinen, Taras Redchuk, Mariia Bogacheva, Kari Salokas, Ina Pöhner, Tiina Öhman, Arun Kumar Tonduru, Antti Hassinen, Lisa Gawriyski, Salla Keskitalo, Maria K Vartiainen, Vilja Pietiäinen, Antti Poso, Markku Varjosalo

Mol Syst Biol. 2021 Nov; 17(11): e10396. Published online 2021 Oct 28. doi: 10.15252/msb.202110396

PMCID:: PMC8552907

Abstract Article PDF–3.9M

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