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

Author:

Gaitán-Peñas Héctor12,Apaja Pirjo M345ORCID,Arnedo Tanit12,Castellanos Aida6,Elorza-Vidal Xabier12,Soto David6ORCID,Gasull Xavier6,Lukacs Gergely L34ORCID,Estévez Raúl12ORCID

Affiliation:

1. Unitat de Fisiología, Departament de Ciències Fisiològiques, IDIBELL-Institute of Neurosciences; Universitat de Barcelona; L'Hospitalet de Llobregat Spain

2. Centro de Investigación en Red de Enfermedades Raras (CIBERER); ISCIII; Spain

3. Department of Physiology; McGill University; Montréal Quebec H3E 1Y6 Canada

4. Research Group Focused on Protein Structure; McGill University; Montréal Quebec H3E 1Y6 Canada

5. South Australian Health and Medical Research Institute; Nutrition and Metabolism Theme and EMBL Australia; 5000 Adelaide Australia

6. Neurophysiology Laboratory, Physiology Unit, Department of Biomedicine, Medical School, Institute of Neurosciences, IDIBAPS; University of Barcelona; Barcelona Spain

Funder

Institució Catalana de Recerca i Estudis Avançats

Canadian Institutes of Health Research

Generalitat de Catalunya

ELA Foundation

Instituto de Salud Carlos III

Ministerio de Ciencia e Innovación

Canada Research Chairs

Publisher

Wiley

Subject

Physiology

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