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Items: 1 to 20 of 110

1.
Induction of lysosomal and mitochondrial biogenesis by AMPK phosphorylation of FNIP1
Nazma Malik, Bibiana I. Ferreira, Pablo E. Hollstein, Stephanie D. Curtis, Elijah Trefts, Sammy Weiser Novak, Jingting Yu, Rebecca Gilson, Kristina Hellberg, Lingjing Fang, Arlo Sheridan, Nasun Hah, Gerald S. Shadel, Uri Manor, Reuben J. Shaw
Science. Author manuscript; available in PMC 2024 Jan 18.
Published in final edited form as: Science. 2023 Apr 21; 380(6642): eabj5559. Published online 2023 Apr 21. doi: 10.1126/science.abj5559
PMCID:
PMC10794112
AbstractArticlePDF–3.3M
2.
Germline- and Somatic-Inactivating FLCN Variants in Parathyroid Cancer and Atypical Parathyroid Tumors
Smita Jha, James Welch, Rana Tora, Justin Lack, Andrew Warner, Jaydira del Rivero, Samira M Sadowski, Naris Nilubol, Laura S Schmidt, W Marston Linehan, Lee S Weinstein, William F Simonds, Sunita K Agarwal
J Clin Endocrinol Metab. 2023 Oct; 108(10): 2686–2698. Published online 2023 Mar 20. doi: 10.1210/clinem/dgad136
PMCID:
PMC10505536
AbstractArticle
3.
Role of FLCN Phosphorylation in Insulin‐Mediated mTORC1 Activation and Tumorigenesis
Guoyan Wang, Lei Chen, Xinjian Lei, Senlin Qin, Huijun Geng, Yining Zheng, Chao Xia, Junhu Yao, Tong Meng, Lu Deng
Adv Sci (Weinh) 2023 Jun; 10(17): 2206826. Published online 2023 Apr 21. doi: 10.1002/advs.202206826
PMCID:
PMC10265093
AbstractArticlePDF–5.9M
4.
Folliculin Prevents Lysosomal Degradation of Human Papillomavirus To Support Infectious Cell Entry
Yoshiyuki Ishii, Toshiyuki Yamaji, Tsuyoshi Sekizuka, Yuta Homma, Seiichiro Mori, Takamasa Takeuchi, Iwao Kukimoto
J Virol. 2023 May; 97(5): e00056-23. Published online 2023 May 11. doi: 10.1128/jvi.00056-23
PMCID:
PMC10231244
AbstractArticlePDF–4.2M
5.
Exons 1–3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome
Yue Wang, Mengru Cai, Xianliang Jiang, Guangyu Lv, Daiju Hu, Guofeng Zhang, Jinli Liu, Wei Wei, Jun Xiao, Bing Shen, Jay H. Ryu, Xiaowen Hu
Orphanet J Rare Dis. 2023; 18: 115. Published online 2023 May 12. doi: 10.1186/s13023-023-02710-9
PMCID:
PMC10176890
AbstractArticlePDF–1.2M
6.
Multiplexed kinase interactome profiling quantifies cellular network activity and plasticity
Martin Golkowski, Andrea Lius, Tanmay Sapre, Ho-Tak Lau, Taylor Moreno, Dustin J. Maly, Shao-En Ong
Mol Cell. Author manuscript; available in PMC 2023 Apr 4.
Published in final edited form as: Mol Cell. 2023 Mar 2; 83(5): 803–818.e8. Published online 2023 Feb 2. doi: 10.1016/j.molcel.2023.01.015
PMCID:
PMC10072906
AbstractArticlePDF–4.2M
7.
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis
Irma van de Beek, Iris E Glykofridis, Jan C Oosterwijk, Peter C van den Akker, Gilles F H Diercks, Maria C Bolling, Quinten Waisfisz, Arjen R Mensenkamp, Jesper A Balk, Rob Zwart, Alex V Postma, Hanne E J Meijers-Heijboer, R Jeroen A van Moorselaar, Rob M F Wolthuis, Arjan C Houweling
Hum Mol Genet. 2023 Apr 1; 32(7): 1223–1235. Published online 2022 Nov 28. doi: 10.1093/hmg/ddac288
PMCID:
PMC10026250
AbstractArticlePDF–1.3M
8.
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors
Irma van de Beek, Iris E. Glykofridis, Anja Wagner, Dorine T. den Toom, Ernie M. H. F. Bongers, Geert J. L. H. van Leenders, Paul C. Johannesma, Hanne E. J. Meijers‐Heijboer, Rob M. F. Wolthuis, Maurice A. M. van Steensel, Hendrikus J. Dubbink, Arjan C. Houweling
Mol Genet Genomic Med. 2023 Feb; 11(2): e2098. Published online 2022 Nov 16. doi: 10.1002/mgg3.2098
PMCID:
PMC9938753
AbstractArticlePDF–1.2M
9.
Frequency of Truncating FLCN Variants and Birt-Hogg-Dubé-Associated Phenotypes in a Healthcare System Population
Juliann M. Savatt, Hermela Shimelis, Andres Moreno-De-Luca, Natasha T. Strande, Matthew T. Oetjens, David H. Ledbetter, Christa Lese Martin, Scott M. Myers, Brenda M. Finucane
Genet Med. Author manuscript; available in PMC 2022 Nov 28.
Published in final edited form as: Genet Med. 2022 Sep; 24(9): 1857–1866. Published online 2022 May 31. doi: 10.1016/j.gim.2022.05.006
PMCID:
PMC9703446
AbstractArticlePDF–792K
10.
Cigarette smoking is a secondary cause of folliculin loss
Xiuying Li, Yandong Lai, Zachary Lane, Hilary Strollo, Kazuya Tanimura, John C Sembrat, Chunbin Zou, Michael M Myerburg, Mauricio Rojas, Steven Shapiro, Yu Jiang, Toru Nyunoya
Thorax. 2023 Apr; 78(4): 402–408. Published online 2022 Mar 17. doi: 10.1136/thoraxjnl-2021-217197
PMCID:
PMC9612398
AbstractArticlePDF–1.5M
11.
Structural basis for FLCN RagC GAP activation in MiT-TFE substrate-selective mTORC1 regulation
Rachel M. Jansen, Roberta Peruzzo, Simon A. Fromm, Adam L. Yokom, Roberto Zoncu, James H. Hurley
Sci Adv. 2022 Sep; 8(37): eadd2926. Published online 2022 Sep 14. doi: 10.1126/sciadv.add2926
PMCID:
PMC9473554
AbstractArticlePDF–3.2M
12.
Phosphoproteomic Analysis of FLCN Inactivation Highlights Differential Kinase Pathways and Regulatory TFEB Phosphoserines
Iris E. Glykofridis, Alex A. Henneman, Jesper A. Balk, Richard Goeij-de Haas, Denise Westland, Sander R. Piersma, Jaco C. Knol, Thang V. Pham, Michiel Boekhout, Fried J.T. Zwartkruis, Rob M.F. Wolthuis, Connie R. Jimenez
Mol Cell Proteomics. 2022 Sep; 21(9): 100263. Published online 2022 Jul 19. doi: 10.1016/j.mcpro.2022.100263
PMCID:
PMC9421328
AbstractArticlePDF–4.8M
13.
The tumor suppressor folliculin inhibits lactate dehydrogenase A and regulates the Warburg effect
Mark R. Woodford, Alexander J. Baker-Williams, Rebecca A. Sager, Sarah J. Backe, Adam R. Blanden, Fiza Hashmi, Priyanka Kancherla, Alessandro Gori, David R. Loiselle, Matteo Castelli, Stefano A. Serapian, Giorgio Colombo, Timothy A. Haystead, Sandra M. Jensen, William G. Stetler-Stevenson, Stewart N. Loh, Laura S. Schmidt, W. Marston Linehan, Alaji Bah, Dimitra Bourboulia, Gennady Bratslavsky, Mehdi Mollapour
Nat Struct Mol Biol. Author manuscript; available in PMC 2022 Jul 13.
Published in final edited form as: Nat Struct Mol Biol. 2021 Aug; 28(8): 662–670. Published online 2021 Aug 11. doi: 10.1038/s41594-021-00633-2
PMCID:
PMC9278990
AbstractArticlePDF–3.8M
14.
A dual-activity topoisomerase complex regulates mRNA translation and turnover
Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang
Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538
PMCID:
PMC9262614
AbstractArticlePDF–3.6M
15.
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
AbstractArticlePDF–6.0M
16.
Clinical and Genetic Comparison of Birt–Hogg–Dubé Syndrome (Hornstein–Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases
Wangji Zhou, Keqiang Liu, Kai-Feng Xu, Yaping Liu, Xinlun Tian
Int J Gen Med. 2022; 15: 5111–5121. Published online 2022 May 23. doi: 10.2147/IJGM.S359660
PMCID:
PMC9144823
AbstractArticlePDF–1.0M
17.
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
AbstractArticlePDF–5.8M
18.
Genetic insight into Birt–Hogg–Dubé syndrome in Indian patients reveals novel mutations at FLCN
Anindita Ray, Esita Chattopadhyay, Richa Singh, Saurabh Ghosh, Arnab Bera, Mridul Sarma, Mahavir Munot, Unnati Desai, Sujeet Rajan, Pralhad Prabhudesai, Ashish K. Prakash, Sushmita Roy Chowdhury, Niladri Bhowmick, Raja Dhar, Zarir F. Udwadia, Atin Dey, Subhra Mitra, Jyotsna M. Joshi, Arindam Maitra, Bidyut Roy
Orphanet J Rare Dis. 2022; 17: 176. Published online 2022 Apr 27. doi: 10.1186/s13023-022-02326-5
PMCID:
PMC9044636
AbstractArticlePDF–1.7M
19.
C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy
Bing-Ru Yan, Taoyingnan Li, Etienne Coyaud, Estelle M. N. Laurent, Jonathan St-Germain, Yuhuan Zhou, Peter K. Kim, Brian Raught, John H. Brumell
Autophagy. 2022; 18(4): 829–840. Published online 2021 Aug 25. doi: 10.1080/15548627.2021.1960116
PMCID:
PMC9037554
AbstractArticlePDF–4.1M
20.
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population
Kristina Lagerstedt-Robinson, Izabella Baranowska Körberg, Stefanos Tsiaprazis, Erik Björck, Emma Tham, Anna Poluha, Maritta Hellström Pigg, Ylva Paulsson-Karlsson, Magnus Nordenskjöld, Maria Johansson-Soller, Christos Aravidis
PLoS One. 2022; 17(2): e0264056. Published online 2022 Feb 17. doi: 10.1371/journal.pone.0264056
PMCID:
PMC8853502
AbstractArticlePDF–671K

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