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Items: 1 to 20 of 43

1.
Cancer‐associated FBXW7 loss is synthetic lethal with pharmacological targeting of CDC7
Joseph S. Baxter, Rachel Brough, Dragomir B. Krastev, Feifei Song, Sandhya Sridhar, Aditi Gulati, John Alexander, Theodoros I. Roumeliotis, Zuza Kozik, Jyoti S. Choudhary, Syed Haider, Stephen J. Pettitt, Andrew N. J. Tutt, Christopher J. Lord
Mol Oncol. 2024 Feb; 18(2): 369–385. Published online 2023 Oct 22. doi: 10.1002/1878-0261.13537
PMCID:
PMC10850818
AbstractArticlePDF–2.7M
2.
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study
Florencia Epifani, Susana María Pujol Serra, Marta Llorens, Sol Balcells, Gregorio Nolasco, Mercè Bolasell, Sergio Aguilera-Albesa, Ramon Cancho Candela, José Luis Cuevas Cervera, Verónica García Sánchez, Oscar Garcia, María Concepción Miranda-Herrero, Pedro J. Moreno-Lozano, Bernabé Robles, Susana Roldán Aparicio, Ramón Velázquez Fragua, Mercedes Serrano
Sci Rep. 2023; 13: 22783. Published online 2023 Dec 20. doi: 10.1038/s41598-023-49518-y
PMCID:
PMC10739927
AbstractArticlePDF–2.1M
3.
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia
Fevronia Kiparissi, Antonia Dastamani, Liina Palm, Aline Azabdaftari, Luis Campos, Edward Gaynor, Stephanie Grünewald, Holm H. Uhlig, Robert Kleta, Detlef Böckenhauer, Kelsey D. J. Jones
Hum Genet. 2023; 142(5): 697–704. Published online 2023 Feb 11. doi: 10.1007/s00439-023-02523-7
PMCID:
PMC10181953
AbstractArticlePDF–1.3M
4.
Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability
Fan Yu, Li Lin, Jingmiao Sun, Jicheng Pan, Yixin Liao, Yunfan Pan, Guannan Bai, Liangjian Ma, Jianhua Mao, Lidan Hu
Oxid Med Cell Longev. 2023; 2023: 5964723. Published online 2023 Jan 25. doi: 10.1155/2023/5964723
PMCID:
PMC9891822
AbstractArticlePDF–5.4M
5.
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery
Pierre C. Havugimana, Raghuveera Kumar Goel, Sadhna Phanse, Ahmed Youssef, Dzmitry Padhorny, Sergei Kotelnikov, Dima Kozakov, Andrew Emili
Nat Commun. 2022; 13: 4043. Published online 2022 Jul 13. doi: 10.1038/s41467-022-31809-z
PMCID:
PMC9279285
AbstractArticlePDF–2.5M
6.
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
AbstractArticlePDF–3.0M
7.
Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration
Tara E. Tracy, Jesus Madero-Pérez, Danielle L. Swaney, Timothy S. Chang, Michelle Moritz, Csaba Konrad, Michael E. Ward, Erica Stevenson, Ruth Hüttenhain, Grant Kauwe, Maria Mercedes, Lauren Sweetland-Martin, Xu Chen, Sue-Ann Mok, Man Ying Wong, Maria Telpoukhovskaia, Sang-Won Min, Chao Wang, Peter Dongmin Sohn, Jordie Martin, Yungui Zhou, Wenjie Luo, John Q. Trojanowski, Virginia M.Y. Lee, Shiaoching Gong, Giovanni Manfredi, Giovanni Coppola, Nevan J. Krogan, Daniel H. Geschwind, Li Gan
Cell. Author manuscript; available in PMC 2022 Feb 19.
Published in final edited form as: Cell. 2022 Feb 17; 185(4): 712–728.e14. Published online 2022 Jan 20. doi: 10.1016/j.cell.2021.12.041
PMCID:
PMC8857049
AbstractArticlePDF–3.6M
8.
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)
Sumaya Islam, Mehmet Tekman, Sarah E. Flanagan, Lisa Guay‐Woodford, Khalid Hussain, Sian Ellard, Robert Kleta, Detlef Bockenhauer, Horia Stanescu, Daniela Iancu
Mol Genet Genomic Med. 2021 Dec; 9(12): e1674. Published online 2021 Apr 3. doi: 10.1002/mgg3.1674
PMCID:
PMC8683636
AbstractArticlePDF–1.0M
9.
Genotype-Phenotype Correlations in PMM2-CDG
Laurien Vaes, Daisy Rymen, David Cassiman, Anna Ligezka, Nele Vanhoutvin, Dulce Quelhas, Eva Morava, Peter Witters
Genes (Basel) 2021 Nov; 12(11): 1658. Published online 2021 Oct 21. doi: 10.3390/genes12111658
PMCID:
PMC8620515
AbstractArticlePDF–573K
10.
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
Fabio Pettinato, Giovanni Mostile, Roberta Battini, Diego Martinelli, Annalisa Madeo, Elisa Biamino, Daniele Frattini, Domenico Garozzo, Serena Gasperini, Rossella Parini, Fabio Sirchia, Giuseppe Sortino, Luisa Sturiale, Gert Matthijs, Amelia Morrone, Maja Di Rocco, Renata Rizzo, Jaak Jaeken, Agata Fiumara, Rita Barone
Cerebellum. 2021; 20(4): 596–605. Published online 2021 Feb 22. doi: 10.1007/s12311-021-01242-x
PMCID:
PMC8360885
AbstractArticlePDF–563K
11.
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
12.
Proteome-wide identification of HSP70/HSC70 chaperone clients in human cells
Seung W. Ryu, Rose Stewart, D. Chase Pectol, Nicolette A. Ender, Oshadi Wimalarathne, Ji-Hoon Lee, Carlos P. Zanini, Antony Harvey, Jon M. Huibregtse, Peter Mueller, Tanya T. Paull
PLoS Biol. 2020 Jul; 18(7): e3000606. Published online 2020 Jul 20. doi: 10.1371/journal.pbio.3000606
PMCID:
PMC7392334
AbstractArticlePDF–2.7M
13.
In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report
Bogdan Doroftei, Loredana Nemtanu, Ovidiu-Dumitru Ilie, Gabriela Simionescu, Iuliu Ivanov, Emil Anton, Maria Puiu, Radu Maftei
Genes (Basel) 2020 Jun; 11(6): 697. Published online 2020 Jun 25. doi: 10.3390/genes11060697
PMCID:
PMC7349484
AbstractArticlePDF–3.5M
14.
Comparative Application of BioID and TurboID for Protein-Proximity Biotinylation
Danielle G. May, Kelsey L. Scott, Alexandre R. Campos, Kyle J. Roux
Cells. 2020 May; 9(5): 1070. Published online 2020 Apr 25. doi: 10.3390/cells9051070
PMCID:
PMC7290721
AbstractArticlePDF–9.2M
15.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
16.
Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency
Tianliu Peng, Chao Lv, Hangjing Tan, Jiafeng Huang, Hailun He, Yan Wang, Minghua Zeng, Dajing Yi, Jie Li, Hongwen Deng, Xiaobo Shi, Hongmei Xiao
J Assist Reprod Genet. 2020 Feb; 37(2): 443–450. Published online 2020 Jan 4. doi: 10.1007/s10815-019-01675-8
PMCID:
PMC7056801
AbstractArticlePDF–1.8M
17.
Transmembrane insertases and N-glycosylation critically determine synthesis, trafficking, and activity of the nonselective cation channel TRPC6
Brianna E. Talbot, David H. Vandorpe, Brian R. Stotter, Seth L. Alper, Johannes S. Schlondorff
J Biol Chem. 2019 Aug 23; 294(34): 12655–12669. Published online 2019 Jul 2. doi: 10.1074/jbc.RA119.008299
PMCID:
PMC6709635
AbstractArticlePDF–2.5M
18.
PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling
Adnan Shami Shah, Alex G. Batrouni, Dongsung Kim, Amith Punyala, Wendy Cao, Chun Han, Michael L. Goldberg, Marcus B. Smolka, Jeremy M. Baskin
Cell Rep. Author manuscript; available in PMC 2019 Jun 26.
Published in final edited form as: Cell Rep. 2019 May 14; 27(7): 2157–2170.e8. doi: 10.1016/j.celrep.2019.04.060
PMCID:
PMC6594551
AbstractArticlePDF–1.4M
19.
Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency
Xiang Yang, Philippe Touraine, Swapna Desai, Gregory Humphreys, Huaiyang Jiang, Alexander Yatsenko, Aleksandar Rajkovic
J Assist Reprod Genet. 2019 Jan; 36(1): 39–45. Published online 2018 Nov 7. doi: 10.1007/s10815-018-1349-4
PMCID:
PMC6338598
AbstractArticlePDF–395K
20.
KAP1 facilitates reinstatement of heterochromatin after DNA replication
Suk Min Jang, Annamaria Kauzlaric, Jean-Pierre Quivy, Julien Pontis, Benjamin Rauwel, Andrea Coluccio, Sandra Offner, Julien Duc, Priscilla Turelli, Geneviève Almouzni, Didier Trono
Nucleic Acids Res. 2018 Sep 28; 46(17): 8788–8802. Published online 2018 Jun 28. doi: 10.1093/nar/gky580
PMCID:
PMC6158507
AbstractArticlePDF–9.4M

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