Literature DB >> 25128180

Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation.

Daniela Di Bella1, Davide Pareyson1, Mario Savoiardo1, Laura Farina1, Claudia Ciano1, Serena Caldarazzo1, Anna Sagnelli1, Sara Bonato1, Simone Nava1, Nereo Bresolin1, Gioacchino Tedeschi1, Franco Taroni2, Ettore Salsano1.   

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Year:  2014        PMID： 25128180     DOI： 10.1212/WNL.0000000000000812

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  16 in total

1.  A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.

Authors:  Fabio L Fernandes-Rosa; Georgios Daniil; Ian J Orozco; Corinna Göppner; Rami El Zein; Vandana Jain; Sheerazed Boulkroun; Xavier Jeunemaitre; Laurence Amar; Hervé Lefebvre; Thomas Schwarzmayr; Tim M Strom; Thomas J Jentsch; Maria-Christina Zennaro
Journal:  Nat Genet       Date:  2018-02-05       Impact factor: 38.330

Review 2.  Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies.

Authors:  Xavier Ayrignac; Clemence Boutiere; Clarisse Carra-Dalliere; Pierre Labauge
Journal:  J Neurol       Date:  2016-04-28       Impact factor: 4.849

Review 3.  Discovery of CLC transport proteins: cloning, structure, function and pathophysiology.

Authors:  Thomas J Jentsch
Journal:  J Physiol       Date:  2015-08-24       Impact factor: 5.182

4.  Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking.

Authors:  Héctor Gaitán-Peñas; Pirjo M Apaja; Tanit Arnedo; Aida Castellanos; Xabier Elorza-Vidal; David Soto; Xavier Gasull; Gergely L Lukacs; Raúl Estévez
Journal:  J Physiol       Date:  2017-10-09       Impact factor: 5.182

5.  Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy.

Authors:  Xavier Capdevila-Nortes; Elena Jeworutzki; Xabier Elorza-Vidal; Alejandro Barrallo-Gimeno; Michael Pusch; Raúl Estévez
Journal:  J Physiol       Date:  2015-06-23       Impact factor: 5.182

6.  Development and validation of a potent and specific inhibitor for the CLC-2 chloride channel.

Authors:  Anna K Koster; Austin L Reese; Yuri Kuryshev; Xianlan Wen; Keri A McKiernan; Erin E Gray; Caiyun Wu; John R Huguenard; Merritt Maduke; J Du Bois
Journal:  Proc Natl Acad Sci U S A       Date:  2020-12-04       Impact factor: 12.779

Review 7.  ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.

Authors:  Diogo R Poroca; Ryan M Pelis; Valérie M Chappe
Journal:  Front Pharmacol       Date:  2017-03-23       Impact factor: 5.810

Review 8.  Regulatory-auxiliary subunits of CLC chloride channel-transport proteins.

Authors:  Alejandro Barrallo-Gimeno; Antonella Gradogna; Ilaria Zanardi; Michael Pusch; Raúl Estévez
Journal:  J Physiol       Date:  2015-09-15       Impact factor: 5.182

9.  Regulation of ClC-2 Chloride Channel Proteostasis by Molecular Chaperones: Correction of Leukodystrophy-Associated Defect.

Authors:  Ssu-Ju Fu; Meng-Chun Hu; Cheng-Tsung Hsiao; An-Ting Cheng; Tsung-Yu Chen; Chung-Jiuan Jeng; Chih-Yung Tang
Journal:  Int J Mol Sci       Date:  2021-05-30       Impact factor: 5.923

10.  Mouse models of human ocular disease for translational research.

Authors:  Mark P Krebs; Gayle B Collin; Wanda L Hicks; Minzhong Yu; Jeremy R Charette; Lan Ying Shi; Jieping Wang; Jürgen K Naggert; Neal S Peachey; Patsy M Nishina
Journal:  PLoS One       Date:  2017-08-31       Impact factor: 3.240
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