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Select item 112033081.

Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1)

Julie Rochat, André Blavier, Séverine Ruet, Sophie Vasseur, Angela Puma, Béatrice Desnous, Victor Chan, Emilien Delmont, Shahram Attarian, Raul Juntas Morales, Isabelle Quadrio, Léo Vidoni, Nathalie Bonello-Palot, David Cheillan

Genes (Basel) 2024 Jun; 15(6): 692. Published online 2024 May 26. doi: 10.3390/genes15060692

PMCID:: PMC11203308

Abstract Article PDF–1.3M

Select item 109168662.

Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma

Suzannah G. Miller, Maria Hoh, Christopher C. Ebmeier, Jian Wei Tay, Natalie G. Ahn

Mol Biol Cell. 2024 Mar 1; 35(3): ar31. Published online 2024 Jan 29. doi: 10.1091/mbc.E23-06-0255

PMCID:: PMC10916866

Abstract Article PDF–4.7M

Select item 104805353.

Mapping the MOB proteins’ proximity network reveals a unique interaction between human MOB3C and the RNase P complex

Islam E. Elkholi, Jonathan Boulais, Marie-Pier Thibault, Hong-Duc Phan, Amélie Robert, Lien B. Lai, Denis Faubert, Matthew J. Smith, Venkat Gopalan, Jean-Franҫois Côté

J Biol Chem. 2023 Sep; 299(9): 105123. Published online 2023 Aug 1. doi: 10.1016/j.jbc.2023.105123

PMCID:: PMC10480535

Abstract Article PDF–2.4M

Select item 102374224.

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 101516155.

Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein–protein interactions in the human cell

Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low

Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120

PMCID:: PMC10151615

Abstract Article PDF–2.9M

Select item 101061446.

Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations

Peishan Wang, Qiao Wei, Hongfu Li, Zhi-Ying Wu

Chin Med J (Engl) 2023 Jan 20; 136(2): 176–183. Published online 2023 Feb 20. doi: 10.1097/CM9.0000000000002495

PMCID:: PMC10106144

Abstract Article PDF–1.2M

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 98160599.

CST1 inhibits ferroptosis and promotes gastric cancer metastasis by regulating GPX4 protein stability via OTUB1

Dongbao Li, Yuhong Wang, Chao Dong, Tao Chen, Anqi Dong, Jiayu Ren, Weikang Li, Gege Shu, Jiaoyang Yang, Wenhao Shen, Lei Qin, Lin Hu, Jin Zhou

Oncogene. 2023; 42(2): 83–98. Published online 2022 Nov 12. doi: 10.1038/s41388-022-02537-x

PMCID:: PMC9816059

Abstract Article PDF–7.6M

Select item 981253110.

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 980420311.

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment

Chiara Fiorillo, Giovanna Capodivento, Alessandro Geroldi, Stefano Tozza, Isabella Moroni, Payam Mohassel, Matteo Cataldi, Chiara Campana, Simone Morando, Chiara Panicucci, Marina Pedemonte, Noemi Brolatti, Sabrina Siliquini, Monica Traverso, Serena Baratto, Doriana Debellis, Stefania Magri, Valeria Prada, Emilia Bellone, Vincenzo Salpietro, Sandra Donkervoort, Kenneth Gable, Sita D. Gupta, Teresa M. Dunn, Carsten G. Bönnemann, Franco Taroni, Claudio Bruno, Angelo Schenone, Paola Mandich, Lucilla Nobbio, Maria Nolano

Neuropathol Appl Neurobiol. 2022 Dec; 48(7): e12842. Published online 2022 Aug 10. doi: 10.1111/nan.12842

PMCID:: PMC9804203

Abstract Article PDF–46M

Select item 953129912.

Regulation of membrane fluidity by RNF145‐triggered degradation of the lipid hydrolase ADIPOR2

Norbert Volkmar, Christian M Gawden‐Bone, James C Williamson, Jonathon Nixon‐Abell, James A West, Peter H St George‐Hyslop, Arthur Kaser, Paul J Lehner

EMBO J. 2022 Oct; 41(19): e110777. Published online 2022 Aug 22. doi: 10.15252/embj.2022110777

PMCID:: PMC9531299

Abstract Article PDF–6.9M

Select item 948193313.

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 933831314.

HSF1 phosphorylation establishes an active chromatin state via the TRRAP–TIP60 complex and promotes tumorigenesis

Mitsuaki Fujimoto, Ryosuke Takii, Masaki Matsumoto, Mariko Okada, Keiich I. Nakayama, Ryuichiro Nakato, Katsunori Fujiki, Katsuhiko Shirahige, Akira Nakai

Nat Commun. 2022; 13: 4355. Published online 2022 Jul 29. doi: 10.1038/s41467-022-32034-4

PMCID:: PMC9338313

Abstract Article PDF–2.8M

Select item 923162315.

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 922651016.

ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia

Linjiang Lao, Isabelle Bourdeau, Lucia Gagliardi, Xiao He, Wei Shi, Bingbing Hao, Minjia Tan, Yan Hu, Junzheng Peng, Benoit Coulombe, David J Torpy, Hamish S Scott, Andre Lacroix, Hongyu Luo, Jiangping Wu

Nucleic Acids Res. 2022 Jun 24; 50(11): 6343–6367. Published online 2022 Jun 10. doi: 10.1093/nar/gkac483

PMCID:: PMC9226510

Abstract Article PDF–3.7M

Select item 917141117.

Physical and functional interactome atlas of human receptor tyrosine kinases

Kari Salokas, Xiaonan Liu, Tiina Öhman, Iftekhar Chowdhury, Lisa Gawriyski, Salla Keskitalo, Markku Varjosalo

EMBO Rep. 2022 Jun; 23(6): e54041. Published online 2022 Apr 5. doi: 10.15252/embr.202154041

PMCID:: PMC9171411

Abstract Article PDF–1.9M

Select item 914091718.

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1

Heike Kölbel, Florian Kraft, Andreas Hentschel, Artur Czech, Andrea Gangfuss, Payam Mohassel, Chi Nguyen, Werner Stenzel, Ulrike Schara-Schmidt, Corinna Preuße, Andreas Roos

Genes (Basel) 2022 May; 13(5): 893. Published online 2022 May 17. doi: 10.3390/genes13050893

PMCID:: PMC9140917

Abstract Article PDF–2.8M

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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