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Items: 1 to 20 of 41

1.
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
AbstractArticlePDF–4.7M
2.
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
AbstractArticlePDF–641K
3.
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
AbstractArticlePDF–2.1M
4.
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
AbstractArticlePDF–4.3M
5.
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
AbstractArticlePDF–4.5M
6.
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
AbstractArticlePDF–1.9M
7.
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
8.
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
AbstractArticlePDF–708K
9.
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
10.
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
AbstractArticlePDF–552K
11.
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
AbstractArticlePDF–757K
12.
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
AbstractArticlePDF–3.2M
13.
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
AbstractArticlePDF–1.5M
14.
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
AbstractArticlePDF–2.1M
15.
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
AbstractArticlePDF–771K
16.
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
AbstractArticlePDF–1.7M
17.
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
AbstractArticlePDF–870K
18.
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
AbstractArticlePDF–4.5M
19.
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
AbstractArticlePDF–3.2M
20.
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
AbstractArticlePDF–2.7M

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