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Select item 68711791.

Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

Camille Lemattre, Marion Imbert-Bouteille, Vincent Gatinois, Paule Benit, Elodie Sanchez, Thomas Guignard, Frédéric Tran Mau-Them, Emmanuelle Haquet, François Rivier, Emilie Carme, Agathe Roubertie, Anne Boland, Doris Lechner, Vincent Meyer, Julien Thevenon, Yannis Duffourd, Jean-Baptiste Rivière, Jean-François Deleuze, Constance Wells, Florence Molinari, Pierre Rustin, Patricia Blanchet, David Geneviève

Eur J Hum Genet. 2019 Nov; 27(11): 1692–1700. Published online 2019 Jul 8. doi: 10.1038/s41431-019-0433-2

PMCID:: PMC6871179

Abstract Article PDF–1017K

Select item 53932812.

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay

Emma S. Reid, Hywel Williams, Glenn Anderson, Malika Benatti, Kling Chong, Chela James, Louise Ocaka, GOSgene, Cheryl Hemingway, Daniel Little, Richard Brown, Alasdair Parker, Simon Holden, Emma Footitt, Shamima Rahman, Paul Gissen, Philippa B. Mills, Peter T. Clayton

J Inherit Metab Dis. 2017; 40(3): 385–394. Published online 2017 Mar 2. doi: 10.1007/s10545-017-0025-7

PMCID:: PMC5393281

Abstract Article PDF–1.3M

Select item 40313293.

SLC25A22 is a Novel Gene for Migrating Partial Seizures in Infancy

Annapurna Poduri, Erin L. Heinzen, Vida Chitsazzadeh, Francesco Massimo Lasorsa, P. Christina Elhosary, Christopher M. LaCoursiere, Emilie Martin, Christopher J. Yuskaitis, Robert Sean Hill, Kutay Deniz Atabay, Brenda Barry, Jennifer N. Partlow, Fahad A. Bashiri, Radwan M. Zeidan, Salah A. Elmalik, Mohammad M.U. Kabiraj, Sanjeev Kothare, Tommy Stödberg, Ingrid E. Scheffer, A. James Barkovich, Ferdinando Palmieri, Mustafa A. Salih, Christopher A. Walsh

Ann Neurol. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Ann Neurol. 2013 Dec; 74(6): 873–882. doi: 10.1002/ana.23998

PMCID:: PMC4031329

Abstract Article PDF–3.2M

Select item 11963784.

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

Florence Molinari, Annick Raas-Rothschild, Marlène Rio, Giuseppe Fiermonte, Ferechté Encha-Razavi, Luigi Palmieri, Ferdinando Palmieri, Ziva Ben-Neriah, Noman Kadhom, Michel Vekemans, Tania Attié-Bitach, Arnold Munnich, Pierre Rustin, Laurence Colleaux

Am J Hum Genet. 2005 Feb; 76(2): 334–339. Published online 2004 Dec 8. doi: 10.1086/427564

PMCID:: PMC1196378

Abstract Article PDF–375K

Select item 62590565.

SLC25A22 Promotes Proliferation and Metastasis of Osteosarcoma Cells via the PTEN Signaling Pathway

Ming-Wei Chen, Xue-jian Wu

Technol Cancer Res Treat. 2018; 17: 1533033818811143. Published online 2018 Nov 27. doi: 10.1177/1533033818811143

PMCID:: PMC6259056

Abstract Article PDF–968K

Select item 1256266.

Citrin and aralar1 are Ca²⁺-stimulated aspartate/glutamate transporters in mitochondria

L. Palmieri, B. Pardo, F.M. Lasorsa, A. del Arco, K. Kobayashi, M. Iijima, M.J. Runswick, J.E. Walker, T. Saheki, J. Satrústegui, F. Palmieri

EMBO J. 2001 Sep 17; 20(18): 5060–5069. doi: 10.1093/emboj/20.18.5060

PMCID:: PMC125626

Abstract Article PDF–304K

Select item 97933597.

SARS-CoV-2 hijacks cellular kinase CDK2 to promote viral RNA synthesis

Saisai Guo, Xiaobo Lei, Yan Chang, Jianyuan Zhao, Jing Wang, Xiaojing Dong, Qian Liu, Zixiong Zhang, Lidan Wang, Dongrong Yi, Ling Ma, Quanjie Li, Yongxin Zhang, Jiwei Ding, Chen Liang, Xiaoyu Li, Fei Guo, Jianwei Wang, Shan Cen

Signal Transduct Target Ther. 2022; 7: 400. Published online 2022 Dec 27. doi: 10.1038/s41392-022-01239-w

PMCID:: PMC9793359

Abstract Article PDF–3.7M

Select item 65846918.

CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI

Wen-Feng Hu, Kimiko L. Krieger, Dragana Lagundžin, Xueli Li, Ronald S. Cheung, Toshiyasu Taniguchi, Keith R. Johnson, Tadayoshi Bessho, Alvaro N. A. Monteiro, Nicholas T. Woods

Cell Death Discov. 2019; 5: 105. Published online 2019 Jun 19. doi: 10.1038/s41420-019-0185-3

PMCID:: PMC6584691

Abstract Article PDF–1.6M

Select item 61384419.

CRL4^AMBRA1 targets Elongin C for ubiquitination and degradation to modulate CRL5 signaling

Si‐Han Chen, Gwendolyn M Jang, Ruth Hüttenhain, David E Gordon, Dan Du, Billy W Newton, Jeffrey R Johnson, Joseph Hiatt, Judd F Hultquist, Tasha L Johnson, Yi‐Liang Liu, Lily A Burton, Jordan Ye, Kurt M Reichermeier, Robert M Stroud, Alexander Marson, Jayanta Debnath, John D Gross, Nevan J Krogan

EMBO J. 2018 Sep 14; 37(18): e97508. Published online 2018 Aug 30. doi: 10.15252/embj.201797508

PMCID:: PMC6138441

Abstract Article PDF–1.7M

Select item 495798110.

The TIP60 complex is a conserved coactivator of HIF1A

Joel I. Perez-Perri, Veronica L. Dengler, K. Audrey Audetat, Ahwan Pandey, Elizabeth A. Bonner, Marjeta Urh, Jacqui Mendez, Danette L. Daniels, Pablo Wappner, Matthew D. Galbraith, Joaquín M. Espinosa

Cell Rep. Author manuscript; available in PMC 2016 Jul 22.

Published in final edited form as: Cell Rep. 2016 Jun 28; 16(1): 37–47. Published online 2016 Jun 16. doi: 10.1016/j.celrep.2016.05.082

PMCID:: PMC4957981

Abstract Article PDF–1.5M

Select item 583958511.

Identification of proteins interacting with the mitochondrial small heat shock protein Hsp22 of Drosophila melanogaster: Implication in mitochondrial homeostasis

Afrooz Dabbaghizadeh, Geneviève Morrow, Yasmine Ould Amer, Etienne Hebert Chatelain, Nicolas Pichaud, Robert M. Tanguay

PLoS One. 2018; 13(3): e0193771. Published online 2018 Mar 6. doi: 10.1371/journal.pone.0193771

PMCID:: PMC5839585

Abstract Article PDF–15M

Select item 603071912.

CRISPR/Cas9-mediated Genomic Editing of Cluap1/IFT38 Reveals a New Role in Actin Arrangement

Tina Beyer, Sylvia Bolz, Katrin Junger, Nicola Horn, Muhammad Moniruzzaman, Yasmin Wissinger, Marius Ueffing, Karsten Boldt

Mol Cell Proteomics. 2018 Jul; 17(7): 1285–1294. Published online 2018 Apr 3. doi: 10.1074/mcp.RA117.000487

PMCID:: PMC6030719

Abstract Article PDF–2.7M

Select item 974196713.

DDX24 promotes metastasis by regulating RPL5 in non‐small cell lung cancer

Xinyan Hu, Fangfang Li, Yulan Zhou, Hairun Gan, Tiancheng Wang, Luting Li, Haoyu Long, Bing Li, Pengfei Pang

Cancer Med. 2022 Dec; 11(23): 4513–4525. Published online 2022 Jul 21. doi: 10.1002/cam4.4835

PMCID:: PMC9741967

Abstract Article PDF–25M

Select item 584947814.

Nuclear lamina genetic variants, including a truncated LAP2, in twins and siblings with nonalcoholic fatty liver disease

Graham F. Brady, Raymond Kwan, Peter J. Ulintz, Phirum Nguyen, Shirin Bassirian, Venkatesha Basrur, Alexey I. Nesvizhskii, Rohit Loomba, M. Bishr Omary

Hepatology. Author manuscript; available in PMC 2019 May 1.

Published in final edited form as: Hepatology. 2018 May; 67(5): 1710–1725. Published online 2018 Mar 24. doi: 10.1002/hep.29522

PMCID:: PMC5849478

Abstract Article PDF–1.7M

Select item 1000589815.

The p97/VCP segregase is essential for arsenic-induced degradation of PML and PML-RARA

Ellis G. Jaffray, Michael H. Tatham, Barbara Mojsa, Magda Liczmanska, Alejandro Rojas-Fernandez, Yili Yin, Graeme Ball, Ronald T. Hay

J Cell Biol. 2023 Apr 3; 222(4): e202201027. Published online 2023 Feb 28. doi: 10.1083/jcb.202201027

PMCID:: PMC10005898

Abstract Article PDF–6.7M

Select item 633389916.

Physiological and pathophysiological characteristics of ataxin-3 isoforms

Daniel Weishäupl, Juliane Schneider, Barbara Peixoto Pinheiro, Corinna Ruess, Sandra Maria Dold, Felix von Zweydorf, Christian Johannes Gloeckner, Jana Schmidt, Olaf Riess, Thorsten Schmidt

J Biol Chem. 2019 Jan 11; 294(2): 644–661. Published online 2018 Nov 19. doi: 10.1074/jbc.RA118.005801

PMCID:: PMC6333899

Abstract Article PDF–3.0M

Select item 748140417.

PARK2 promotes mitochondrial pathway of apoptosis and antimicrotubule drugs chemosensitivity via degradation of phospho-BCL-2

Hengxing Chen, Yun Li, Yu Li, Zhen Chen, Limin Xie, Wenjia Li, Yuanxin Zhu, Hong Xue, H. Phillip Koeffler, Wenjing Wu, Kaishun Hu, Dong Yin

Theranostics. 2020; 10(22): 9984–10000. Published online 2020 Aug 8. doi: 10.7150/thno.47044

PMCID:: PMC7481404

Abstract Article PDF–4.0M

Select item 959735218.

RUFY1 binds Arl8b and mediates endosome-to-TGN CI-M6PR retrieval for cargo sorting to lysosomes

Shalini Rawat, Dhruba Chatterjee, Rituraj Marwaha, Gitanjali Charak, Gaurav Kumar, Shrestha Shaw, Divya Khatter, Sheetal Sharma, Cecilia de Heus, Nalan Liv, Judith Klumperman, Amit Tuli, Mahak Sharma

J Cell Biol. 2023 Jan 2; 222(1): e202108001. Published online 2022 Oct 25. doi: 10.1083/jcb.202108001

PMCID:: PMC9597352

Abstract Article PDF–12M

Select item 486124919.

The Scaffold Protein KSR1, A Novel Therapeutic Target for the Treatment of Merlin-Deficient Tumors

Lu Zhou, Jade Lyons-Rimmer, Sylwia Ammoun, Jürgen Müller, Edwin Lasonder, Vikram Sharma, Emanuela Ercolano, David Hilton, Ifeoluwatola Taiwo, Magdalena Barczyk, C. Oliver Hanemann

Oncogene. Author manuscript; available in PMC 2016 Dec 30.

Published in final edited form as: Oncogene. 2016 Jun 30; 35(26): 3443–3453. Published online 2015 Nov 9. doi: 10.1038/onc.2015.404

PMCID:: PMC4861249

Abstract Article PDF–2.5M

Select item 895660420.

CRISPR activation screen identifies BCL-2 proteins and B3GNT2 as drivers of cancer resistance to T cell-mediated cytotoxicity

Julia Joung, Paul C. Kirchgatterer, Ankita Singh, Jang H. Cho, Suchita P. Nety, Rebecca C. Larson, Rhiannon K. Macrae, Rebecca Deasy, Yuen-Yi Tseng, Marcela V. Maus, Feng Zhang

Nat Commun. 2022; 13: 1606. Published online 2022 Mar 25. doi: 10.1038/s41467-022-29205-8

PMCID:: PMC8956604

Abstract Article PDF–3.9M

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