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Items: 1 to 20 of 31

1.
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy
Joohyun Park, Bianca R. Flores, Katalin Scherer, Hanna Kuepper, Mari Rossi, Katrin Rupprich, Maren Rautenberg, Natalie Deininger, Annette Weichselbaum, Alexander Grimm, Marc Sturm, Ute Grasshoff, Eric Delpire, Tobias B. Haack
J Med Genet. Author manuscript; available in PMC 2024 May 7.
Published in final edited form as: J Med Genet. 2020 Apr; 57(4): 283–288. Published online 2019 Aug 22. doi: 10.1136/jmedgenet-2019-106273
PMCID:
PMC11074718
AbstractArticlePDF–774K
2.
Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype
Sissel Løseth, Helle Høyer, Kim-Mai Le, Eric Delpire, Einar Kinge, Asgeir Lande, Hilde Tveitan Hilmarsen, Toril Fagerheim, Øivind Nilssen, Geir Julius Braathen
Brain. 2023 Mar; 146(3): 912–922. Published online 2022 Dec 21. doi: 10.1093/brain/awac488
PMCID:
PMC9976957
AbstractArticlePDF–505K
3.
Novel heterozygous variants of SLC12A6 in Japanese families with Charcot–Marie–Tooth disease
Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi, Jun Takei, Mika Takeuchi, Yu Hiramatsu, Fumitaka Shimizu, Masaya Kubota, Akari Takeshima, Takehiro Ueda, Kishin Koh, Utako Nagaoka, Takashi Tokashiki, Setsu Sawai, Yusuke Sakiyama, Akihiro Hashiguchi, Ryota Sato, Takashi Kanda, Yuji Okamoto, Hiroshi Takashima
Ann Clin Transl Neurol. 2022 Jul; 9(7): 902–911. Published online 2022 Jun 22. doi: 10.1002/acn3.51603
PMCID:
PMC9268887
AbstractArticlePDF–870K
4.
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
5.
Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy
Petya Bogdanova-Mihaylova, Patricia McNamara, Sarah Burton-Jones, Sinéad M Murphy
BMJ Case Rep. 2021; 14(10): e244641. Published online 2021 Oct 27. doi: 10.1136/bcr-2021-244641
PMCID:
PMC8552160
AbstractArticlePDF–405K
6.
N6-methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation
Yuanming Cheng, Wei Xie, Brian F Pickering, Karen L Chu, Angela M Savino, Xuejing Yang, Hanzhi Luo, Diu TT Nguyen, Shanlan Mo, Ersilia Barin, Anthony Velleca, Thomas Rohwetter, Dinshaw J Patel, Samie R Jaffrey, Michael G Kharas
Cancer Cell. Author manuscript; available in PMC 2022 Jul 12.
Published in final edited form as: Cancer Cell. 2021 Jul 12; 39(7): 958–972.e8. Published online 2021 May 27. doi: 10.1016/j.ccell.2021.04.017
PMCID:
PMC8282764
AbstractArticlePDF–3.4M
7.
Phospho‐regulation, nucleotide binding and ion access control in potassium‐chloride cotransporters
Gamma Chi, Rebecca Ebenhoch, Henry Man, Haiping Tang, Laurence E Tremblay, Gabriella Reggiano, Xingyu Qiu, Tina Bohstedt, Idlir Liko, Fernando G Almeida, Alexandre P Garneau, Dong Wang, Gavin McKinley, Christophe P Moreau, Kiran D Bountra, Patrizia Abrusci, Shubhashish M M Mukhopadhyay, Alejandra Fernandez‐Cid, Samira Slimani, Julie L Lavoie, Nicola A Burgess‐Brown, Ben Tehan, Frank DiMaio, Ali Jazayeri, Paul Isenring, Carol V Robinson, Katharina L Dürr
EMBO J. 2021 Jul 15; 40(14): e107294. Published online 2021 May 25. doi: 10.15252/embj.2020107294
PMCID:
PMC8280820
AbstractArticlePDF–3.6M
8.
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
9.
AMPK, a key regulator of metabolism and autophagy, is activated by lysosomal damage via a novel galectin-directed ubiquitin signal transduction system
Jingyue Jia, Bhawana Bissa, Lukas Brecht, Lee Allers, Seong Won Choi, Yuexi Gu, Mark Zbinden, Mark R. Burge, Graham Timmins, Kenneth Hallows, Christian Behrends, Vojo Deretic
Mol Cell. Author manuscript; available in PMC 2021 Mar 5.
Published in final edited form as: Mol Cell. 2020 Mar 5; 77(5): 951–969.e9. Published online 2020 Jan 28. doi: 10.1016/j.molcel.2019.12.028
PMCID:
PMC7785494
AbstractArticlePDF–2.9M
10.
Phosphodiesterase 2A2 regulates mitochondria clearance through Parkin-dependent mitophagy
Miguel J. Lobo, Laia Reverte-Salisa, Ying-Chi Chao, Andreas Koschinski, Frank Gesellchen, Gunasekaran Subramaniam, He Jiang, Samuel Pace, Natasha Larcom, Ester Paolocci, Alexander Pfeifer, Sara Zanivan, Manuela Zaccolo
Commun Biol. 2020; 3: 596. Published online 2020 Oct 21. doi: 10.1038/s42003-020-01311-7
PMCID:
PMC7578833
AbstractArticlePDF–4.3M
11.
RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation
Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen
Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117
PMCID:
PMC7322067
AbstractArticlePDF–2.7M
12.
SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus
Sheng Chih Jin, Charuta G. Furey, Xue Zeng, August Allocco, Carol Nelson‐Williams, Weilai Dong, Jason K. Karimy, Kevin Wang, Shaojie Ma, Eric Delpire, Kristopher T. Kahle
Mol Genet Genomic Med. 2019 Sep; 7(9): e892. Published online 2019 Aug 8. doi: 10.1002/mgg3.892
PMCID:
PMC6732308
AbstractArticlePDF–792K
13.
Loss of Neuronal Potassium/Chloride Cotransporter 3 (KCC3) Is Responsible for the Degenerative Phenotype in a Conditional Mouse Model of Hereditary Motor and Sensory Neuropathy Associated with Agenesis of the Corpus Callosum
Masoud Shekarabi, Randal X. Moldrich, Sarah Rasheed, Adéle Salin-Cantegrel, Janet Laganière, Daniel Rochefort, Pascale Hince, Karine Huot, Rébecca Gaudet, Nyoman Kurniawan, Susana G. Sotocinal, Jennifer Ritchie, Patrick A. Dion, Jeffrey S. Mogil, Linda J. Richards, Guy A. Rouleau
J Neurosci. 2012 Mar 14; 32(11): 3865–3876. doi: 10.1523/JNEUROSCI.3679-11.2012
PMCID:
PMC6703451
AbstractArticlePDF–4.0M
14.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
15.
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
16.
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
17.
Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter
Kristopher T. Kahle, Bianca Flores, Diana Bharucha-Goebel, Jinwei Zhang, Sandra Donkervoort, Madhuri Hegde, Gulnaz Begum, Daniel Duran, Bo Liang, Dandan Sun, Carsten G. Bönnemann, Eric Delpire
Sci Signal. Author manuscript; available in PMC 2017 Aug 2.
Published in final edited form as: Sci Signal. 2016 Aug 2; 9(439): ra77. Published online 2016 Aug 2. doi: 10.1126/scisignal.aae0546
PMCID:
PMC5506493
AbstractArticlePDF–1013K
18.
Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing
Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown
Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114
PMCID:
PMC5495225
AbstractArticlePDF–1.3M
19.
A dynamic protein interaction landscape of the human centrosome-cilium interface
Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier
Cell. Author manuscript; available in PMC 2016 Dec 3.
Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065
PMCID:
PMC5089374
AbstractArticlePDF–1.5M
20.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M

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