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Items: 1 to 20 of 117

1.
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy
Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, Irene C. Notting, Elfride De Baere, Sophie Walraedt, Julie De Zaeytijd, Filip Van den Broeck, Bart P. Leroy, Camiel J. F. Boon, Maria M. van Genderen
Sci Rep. 2024; 14: 22956. Published online 2024 Oct 3. doi: 10.1038/s41598-024-74364-x
PMCID:
PMC11450207
AbstractArticlePDF–1.6M
2.
Cell fixation improves performance of in situ crosslinking mass spectrometry while preserving cellular ultrastructure
Andrew R. M. Michael, Bruno C. Amaral, Kallie L. Ball, Kristen H. Eiriksson, David C. Schriemer
Nat Commun. 2024; 15: 8537. Published online 2024 Oct 2. doi: 10.1038/s41467-024-52844-y
PMCID:
PMC11447256
AbstractArticlePDF–2.8M
3.
ER-export and ARFRP1/AP-1–dependent delivery of SARS-CoV-2 Envelope to lysosomes controls late stages of viral replication
Guy J. Pearson, Harriet V. Mears, Malgorzata Broncel, Ambrosius P. Snijders, David L. V. Bauer, Jeremy G. Carlton
Sci Adv. 2024 Apr 5; 10(14): eadl5012. Published online 2024 Apr 3. doi: 10.1126/sciadv.adl5012
PMCID:
PMC10990277
AbstractArticlePDF–3.9M
4.
The miR-668 binding site variant rs1046322 on WFS1 is associated with obesity in Southeast Asians
Maha M. Hammad, Mohamed Abu-Farha, Prashantha Hebbar, Emil Anoop, Betty Chandy, Motasem Melhem, Arshad Channanath, Fahd Al-Mulla, Thangavel Alphonse Thanaraj, Jehad Abubaker
Front Endocrinol (Lausanne) 2023; 14: 1185956. Published online 2023 Oct 4. doi: 10.3389/fendo.2023.1185956
PMCID:
PMC10583568
AbstractArticlePDF–653K
5.
Selective proteasome degradation of C‐terminally‐truncated human WFS1 in pancreatic beta cells
Hiraku Tokuma, Daisuke Sakano, Katsuya Tanabe, Yukio Tanizawa, Nobuaki Shiraki, Shoen Kume
FEBS Open Bio. 2023 Aug; 13(8): 1405–1414. Published online 2023 Jul 19. doi: 10.1002/2211-5463.13674
PMCID:
PMC10392043
AbstractArticlePDF–4.0M
6.
The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes
Yating Li, Siqian Gong, Meng Li, Xiaoling Cai, Wei Liu, Simin Zhang, Yumin Ma, Yingying Luo, Lingli Zhou, Xiuying Zhang, Xiuting Huang, Xueying Gao, Mengdie Hu, Yufeng Li, Qian Ren, Yanai Wang, Xianghai Zhou, Xueyao Han, Linong Ji
Sci Rep. 2023; 13: 9127. Published online 2023 Jun 5. doi: 10.1038/s41598-023-36334-7
PMCID:
PMC10241780
AbstractArticlePDF–929K
7.
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
AbstractArticlePDF–23M
8.
Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome
Malgorzata Zatyka, Tatiana R. Rosenstock, Congxin Sun, Adina M. Palhegyi, Georgina W. Hughes, Samuel Lara-Reyna, Dewi Astuti, Alessandro di Maio, Axel Sciauvaud, Miriam E. Korsgen, Vesna Stanulovic, Gamze Kocak, Malgorzata Rak, Sandra Pourtoy-Brasselet, Katherine Winter, Thiago Varga, Margot Jarrige, Hélène Polvèche, Joao Correia, Eva-Maria Frickel, Maarten Hoogenkamp, Douglas G. Ward, Laetitia Aubry, Timothy Barrett, Sovan Sarkar
Stem Cell Reports. 2023 May 9; 18(5): 1090–1106. Published online 2023 May 9. doi: 10.1016/j.stemcr.2023.04.002
PMCID:
PMC10202695
AbstractArticlePDF–8.1M
9.
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
AbstractArticlePDF–2.9M
10.
Genetic Variants of HNF4A, WFS1, DUSP9, FTO, and ZFAND6 Genes Are Associated with Prediabetes Susceptibility and Inflammatory Markers in the Saudi Arabian Population
Dalal N. Binjawhar, Mohammed G. A. Ansari, Shaun Sabico, Syed Danish Hussain, Amal M. Alenad, Majed S. Alokail, Abeer A. Al-Masri, Nasser M. Al-Daghri
Genes (Basel) 2023 Mar; 14(3): 536. Published online 2023 Feb 21. doi: 10.3390/genes14030536
PMCID:
PMC10048403
AbstractArticlePDF–287K
11.
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
AbstractArticlePDF–8.2M
12.
System analysis based on the ER stress-related genes identifies WFS1 as a novel therapy target for colon cancer
Xianguang Yang, Chaoyang Zhang, Cheng Yan, Liukai Ma, Jiahao Ma, Xiaoke Meng
Aging (Albany NY) 2022 Nov 30; 14(22): 9243–9263. Published online 2022 Nov 28. doi: 10.18632/aging.204404
PMCID:
PMC9740360
AbstractArticlePDF–2.6M
13.
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
14.
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
15.
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
16.
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome
Kun Hu, Malgorzata Zatyka, Dewi Astuti, Nicola Beer, Renuka P Dias, Archana Kulkarni, John Ainsworth, Benjamin Wright, Anna Majander, Patrick Yu-Wai-Man, Denise Williams, Timothy Barrett
J Med Genet. 2022 Jan; 59(1): 65–74. Published online 2021 May 18. doi: 10.1136/jmedgenet-2020-107257
PMCID:
PMC8685651
AbstractArticlePDF–2.8M
17.
WFS1 functions in ER export of vesicular cargo proteins in pancreatic β-cells
Linlin Wang, Hongyang Liu, Xiaofei Zhang, Eli Song, You Wang, Tao Xu, Zonghong Li
Nat Commun. 2021; 12: 6996. Published online 2021 Nov 30. doi: 10.1038/s41467-021-27344-y
PMCID:
PMC8632972
AbstractArticlePDF–5.6M
18.
Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome
Ziyu Ren, Jixiu Yi, Min Zhong, Yunting Wang, Qicong Liu, Xuan Wang, Dongfang Liu, Wei Ren
BMC Endocr Disord. 2021; 21: 166. Published online 2021 Aug 17. doi: 10.1186/s12902-021-00823-5
PMCID:
PMC8369721
AbstractArticlePDF–2.9M
19.
Protein interaction landscapes revealed by advanced in vivo cross-linking–mass spectrometry
Andrew Wheat, Clinton Yu, Xiaorong Wang, Anthony M. Burke, Ilan E. Chemmama, Robyn M. Kaake, Peter Baker, Scott D. Rychnovsky, Jing Yang, Lan Huang
Proc Natl Acad Sci U S A. 2021 Aug 10; 118(32): e2023360118. Published online 2021 Aug 4. doi: 10.1073/pnas.2023360118
PMCID:
PMC8364181
AbstractArticlePDF–3.0M
20.
A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4
Maurizio Delvecchio, Federica Ortolani, Orazio Palumbo, Concetta Aloi, Alessandro Salina, Francesco Claudio Susca, Pietro Palumbo, Massimo Carella, Nicoletta Resta, Elvira Piccinno
Int J Mol Sci. 2021 Aug; 22(15): 8082. Published online 2021 Jul 28. doi: 10.3390/ijms22158082
PMCID:
PMC8348440
AbstractArticlePDF–6.5M

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