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Select item 110747181.

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

Abstract Article PDF–774K

Select item 99769572.

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

Abstract Article PDF–505K

Select item 92688873.

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

Abstract Article PDF–870K

Select item 85521604.

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

Abstract Article PDF–405K

Select item 41196265.

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

Abstract Article PDF–3.7M

Select item 38147436.

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

Abstract Article PDF–600K

Select item 31510887.

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

Abstract Article PDF–1.8M

Select item 82808208.

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

Abstract Article PDF–3.6M

Select item 67323089.

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

Abstract Article PDF–792K

Select item 550649310.

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

Abstract Article PDF–1013K

Select item 366553211.

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

Abstract Article PDF–8.2M

Select item 670345112.

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

Abstract Article PDF–4.0M

Select item 281121413.

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

Abstract Article PDF–1.6M

Select item 316240914.

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

Abstract Article PDF–2.7M

Select item 394004015.

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

Abstract Article PDF–1.7M

Select item 376663116.

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

Abstract Article PDF–1.5M

Select item 757883317.

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

Abstract Article PDF–4.3M

Select item 828276418.

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

Abstract Article PDF–3.4M

Select item 778549419.

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

Abstract Article PDF–2.9M

Select item 361021420.

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

Abstract Article PDF–1.7M

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