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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.
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
5.
The K–Cl Cotransporter KCC3 as an Independent Prognostic Factor in Human Esophageal Squamous Cell Carcinoma
Atsushi Shiozaki, Kenichi Takemoto, Daisuke Ichikawa, Hitoshi Fujiwara, Hirotaka Konishi, Toshiyuki Kosuga, Shuhei Komatsu, Kazuma Okamoto, Mitsuo Kishimoto, Yoshinori Marunaka, Eigo Otsuji
Biomed Res Int. 2014; 2014: 936401. Published online 2014 Jul 9. doi: 10.1155/2014/936401
PMCID:
PMC4119626
AbstractArticlePDF–3.7M
6.
N-terminal Serine Dephosphorylation Is Required for KCC3 Cotransporter Full Activation by Cell Swelling
Zesergio Melo, Paola de los Heros, Silvia Cruz-Rangel, Norma Vázquez, Norma A. Bobadilla, Herminia Pasantes-Morales, Dario R. Alessi, Adriana Mercado, Gerardo Gamba
J Biol Chem. 2013 Nov 1; 288(44): 31468–31476. Published online 2013 Sep 16. doi: 10.1074/jbc.M113.475574
PMCID:
PMC3814743
AbstractArticlePDF–600K
7.
Transit Defect of Potassium-Chloride Co-transporter 3 Is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Adèle Salin-Cantegrel, Jean-Baptiste Rivière, Masoud Shekarabi, Sarah Rasheed, Sandra DaCal, Janet Laganière, Rébecca Gaudet, Daniel Rochefort, Gaëtan Lesca, Claudia Gaspar, Patrick A. Dion, Jean-Yves Lapointe, Guy A. Rouleau
J Biol Chem. 2011 Aug 12; 286(32): 28456–28465. Published online 2011 May 31. doi: 10.1074/jbc.M111.226894
PMCID:
PMC3151088
AbstractArticlePDF–1.8M
8.
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
9.
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
10.
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
11.
Potassium-Chloride Cotransporter 3 Interacts with Vav2 to Synchronize the Cell Volume Decrease Response with Cell Protrusion Dynamics
Adèle Salin-Cantegrel, Masoud Shekarabi, Sarah Rasheed, François M. Charron, Janet Laganière, Rebecca Gaudet, Patrick A. Dion, Jean-Yves Lapointe, Guy A. Rouleau
PLoS One. 2013; 8(5): e65294. Published online 2013 May 28. doi: 10.1371/journal.pone.0065294
PMCID:
PMC3665532
AbstractArticlePDF–8.2M
12.
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
13.
Sites of Regulated Phosphorylation that Control K-Cl Cotransporter Activity
Jesse Rinehart, Yelena D. Maksimova, Jessica E. Tanis, Kathryn L. Stone, Caleb A. Hodson, Junhui Zhang, Mary Risinger, Weijun Pan, Dianqing Wu, Christopher M. Colangelo, Biff Forbush, Clinton H. Joiner, Erol E. Gulcicek, Patrick G. Gallagher, Richard P. Lifton
Cell. Author manuscript; available in PMC 2010 Jan 25.
Published in final edited form as: Cell. 2009 Aug 7; 138(3): 525–536. doi: 10.1016/j.cell.2009.05.031
PMCID:
PMC2811214
AbstractArticlePDF–1.6M
14.
K-Cl Cotransporter Gene Expression during Human and Murine Erythroid Differentiation
Dao Pan, Theodosia A. Kalfa, Daren Wang, Mary Risinger, Scott Crable, Anna Ottlinger, Sharat Chandra, David B. Mount, Christian A. Hübner, Robert S. Franco, Clinton H. Joiner
J Biol Chem. 2011 Sep 2; 286(35): 30492–30503. Published online 2011 Jul 6. doi: 10.1074/jbc.M110.206516
PMCID:
PMC3162409
AbstractArticlePDF–2.7M
15.
The WNK-regulated SPAK/OSR1 kinases directly phosphorylate and inhibit the K+–Cl− co-transporters
Paola delos Heros, Dario R. Alessi, Robert Gourlay, David G. Campbell, Maria Deak, Thomas J. Macartney, Kristopher T. Kahle, Jinwei Zhang
Biochem J. 2014 Mar 15; 458(Pt 3): 559–573. Prepublished online 2014 Jan 7. Published online 2014 Feb 28. doi: 10.1042/BJ20131478
PMCID:
PMC3940040
AbstractArticlePDF–1.7M
16.
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
Weizhen Ji, Jia Nee Foo, Brian J. O'Roak, Hongyu Zhao, Martin G. Larson, David B. Simon, Christopher Newton-Cheh, Matthew W. State, Daniel Levy, Richard P. Lifton
Nat Genet. Author manuscript; available in PMC 2013 Sep 8.
Published in final edited form as: Nat Genet. 2008 May; 40(5): 592–599. Published online 2008 Apr 6. doi: 10.1038/ng.118
PMCID:
PMC3766631
AbstractArticlePDF–1.5M
17.
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
18.
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
19.
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
20.
A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome
Gaëlle Blandin, Sylvie Marchand, Karine Charton, Nathalie Danièle, Evelyne Gicquel, Jean-Baptiste Boucheteil, Azéddine Bentaib, Laetitia Barrault, Daniel Stockholm, Marc Bartoli, Isabelle Richard
Skelet Muscle. 2013; 3: 3. Published online 2013 Feb 15. doi: 10.1186/2044-5040-3-3
PMCID:
PMC3610214
AbstractArticlePDF–1.7M

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