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Select item 109168661.

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 103196792.

PSEN1/SLC20A2 double mutation causes early-onset Alzheimer’s disease and primary familial brain calcification co-morbidity

Sophie Hebestreit, Janine Schwahn, Vesile Sandikci, Mate E. Maros, Ivan Valkadinov, Rüstem Yilmaz, Lukas Eckrich, Seyed Babak Loghmani, Hendrik Lesch, Julian Conrad, Holger Wenz, Anne Ebert, David Brenner, Jochen H. Weishaupt

Neurogenetics. 2023; 24(3): 209–213. Published online 2023 Jun 21. doi: 10.1007/s10048-023-00723-x

PMCID:: PMC10319679

Abstract Article PDF–641K

Select item 98495303.

Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis

Hao Sun, Xuan Xu, Junyu Luo, Tingbin Ma, Jiaming Cui, Mugen Liu, Bo Xiong, Shujia Zhu, Jing-Yu Liu

Neurosci Bull. 2023 Jan; 39(1): 57–68. Published online 2022 Jun 17. doi: 10.1007/s12264-022-00893-y

PMCID:: PMC9849530

Abstract Article PDF–2.1M

Select item 97088824.

PiT2 deficiency prevents increase of bone marrow adipose tissue during skeletal maturation but not in OVX-induced osteoporosis

Giulia Frangi, Marie Guicheteau, Frederic Jacquot, Grzegorz Pyka, Greet Kerckhofs, Magalie Feyeux, Joëlle Veziers, Pierre Guihard, Boris Halgand, Sophie Sourice, Jérôme Guicheux, Xavier Prieur, Laurent Beck, Sarah Beck-Cormier

Front Endocrinol (Lausanne) 2022; 13: 921073. Published online 2022 Nov 16. doi: 10.3389/fendo.2022.921073

PMCID:: PMC9708882

Abstract Article PDF–4.3M

Select item 95521185.

Claudin-4 localization in epithelial ovarian cancer

Margaret C. Neville, Patricia G. Webb, Heidi K. Baumgartner, Benjamin G. Bitler

Heliyon. 2022 Oct; 8(10): e10862. Published online 2022 Oct 4. doi: 10.1016/j.heliyon.2022.e10862

PMCID:: PMC9552118

Abstract Article PDF–4.5M

Select item 91714116.

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 88970227.

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

Abstract Article PDF–3.0M

Select item 84843578.

Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2

A. Arteche-López, MI. Álvarez-Mora, MT. Sánchez Calvin, JM. Lezana Rosales, C. Palma Milla, M. J. Gómez Rodríguez, I. Gomez Manjón, A. Blázquez, A. Juarez Rufián, P. Ramos Gómez, O. Sierra Tomillo, I. Hidalgo Mayoral, R. Pérez de la Fuente, IJ. Posada Rodríguez, LI. González Granado, Miguel A. Martin, JF. Quesada-Espinosa, M. Moreno-García

Eur J Hum Genet. 2021 Oct; 29(10): 1520–1526. Published online 2021 Jul 15. doi: 10.1038/s41431-021-00919-5

PMCID:: PMC8484357

Abstract Article PDF–708K

Select item 81650309.

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

Abstract Article PDF–2.2M

Select item 799782110.

Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

Luca Magistrelli, Roberta Croce, Fabiola De Marchi, Chiara Basagni, Miryam Carecchio, Nicola Nasuelli, Roberto Cantello, Federica Invernizzi, Barbara Garavaglia, Cristoforo Comi, Letizia Mazzini, Sandra D’Alfonso, Lucia Corrado

Neurogenetics. 2021; 22(1): 65–70. Published online 2021 Jan 20. doi: 10.1007/s10048-021-00634-9

PMCID:: PMC7997821

Abstract Article PDF–552K

Select item 741140011.

Whole-exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family

Yiqiang Li, Xuemei Lin, Mingwei Zhu, Jingchun Li, Zhe Yuan, Hongwen Xu

Mol Med Rep. 2020 Sep; 22(3): 2469–2477. Published online 2020 Jul 6. doi: 10.3892/mmr.2020.11298

PMCID:: PMC7411400

Abstract Article PDF–757K

Select item 736313212.

Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis

Uriel López-Sánchez, Sandrine Tury, Gaël Nicolas, Miranda S. Wilson, Snejana Jurici, Xavier Ayrignac, Valérie Courgnaud, Adolfo Saiardi, Marc Sitbon, Jean-Luc Battini

J Biol Chem. 2020 Jul 10; 295(28): 9366–9378. Published online 2020 May 11. doi: 10.1074/jbc.RA119.011376

PMCID:: PMC7363132

Abstract Article PDF–3.2M

Select item 735915113.

Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation

Antonietta Coppola, Laura Hernandez-Hernandez, Simona Balestrini, S. Krithika, Nicholas Moran, Blake Hale, Carla Cordivari, Sanjay M. Sisodiya

J Neurol. 2020; 267(8): 2221–2227. Published online 2020 Apr 9. doi: 10.1007/s00415-020-09821-4

PMCID:: PMC7359151

Abstract Article PDF–1.5M

Select item 687272314.

Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification

Kazuya Nishii, Ritsuko Shimogawa, Hisaka Kurita, Masatoshi Inden, Michio Kobayashi, Itaru Toyoshima, Yoshiharu Taguchi, Akihiro Ueda, Hidetaka Tamune, Isao Hozumi

Sci Rep. 2019; 9: 17288. Published online 2019 Nov 21. doi: 10.1038/s41598-019-53401-0

PMCID:: PMC6872723

Abstract Article PDF–2.1M

Select item 661816115.

Slc20a2, Encoding the Phosphate Transporter PiT2, Is an Important Genetic Determinant of Bone Quality and Strength

Sarah Beck‐Cormier, Christopher J Lelliott, John G Logan, David T Lafont, Laure Merametdjian, Victoria D Leitch, Natalie C Butterfield, Hayley J Protheroe, Peter I Croucher, Paul A Baldock, Alina Gaultier‐Lintia, Yves Maugars, Gael Nicolas, Christopher Banse, Sébastien Normant, Nicolas Magne, Emmanuel Gérardin, Nina Bon, Sophie Sourice, Jérôme Guicheux, Laurent Beck, Graham R Williams, J H Duncan Bassett

J Bone Miner Res. 2019 Jun; 34(6): 1101–1114. Published online 2019 Mar 19. doi: 10.1002/jbmr.3691

PMCID:: PMC6618161

Abstract Article PDF–771K

Select item 638658816.

The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2

Joanna R. Kovalski, Aparna Bhaduri, Ashley M. Zehnder, Poornima H. Neela, Yonglu Che, Glenn G. Wozniak, Paul A. Khavari

Mol Cell. Author manuscript; available in PMC 2020 Feb 21.

Published in final edited form as: Mol Cell. 2019 Feb 21; 73(4): 830–844.e12. Published online 2019 Jan 10. doi: 10.1016/j.molcel.2018.12.001

PMCID:: PMC6386588

Abstract Article PDF–1.7M

Select item 588773817.

A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients

Yan Ding, Hui-Qing Dong

Chin Med J (Engl) 2018 Apr 5; 131(7): 799–803. doi: 10.4103/0366-6999.228245

PMCID:: PMC5887738

Abstract Article PDF–870K

Select item 586483218.

An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations

Xiaonan Liu, Kari Salokas, Fitsum Tamene, Yaming Jiu, Rigbe G. Weldatsadik, Tiina Öhman, Markku Varjosalo

Nat Commun. 2018; 9: 1188. Published online 2018 Mar 22. doi: 10.1038/s41467-018-03523-2

PMCID:: PMC5864832

Abstract Article PDF–4.5M

Select item 567858119.

RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination

Nila Roy Choudhury, Gregory Heikel, Maryia Trubitsyna, Peter Kubik, Jakub Stanislaw Nowak, Shaun Webb, Sander Granneman, Christos Spanos, Juri Rappsilber, Alfredo Castello, Gracjan Michlewski

BMC Biol. 2017; 15: 105. Published online 2017 Nov 8. doi: 10.1186/s12915-017-0444-9

PMCID:: PMC5678581

Abstract Article PDF–3.2M

Select item 553161120.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

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