Marcus A. Mall

Sep 18, 2024 | err.ersjournals.com | Byrnes CA |Marcus A. Mall |Jane Davies |Scott Donaldson

IntroductionCystic fibrosis (CF) is a life-limiting genetic disease affecting the lungs and multiple other organs that is caused by pathogenic variants in the gene encoding the CF transmembrane conductance regulator (CFTR) protein [1, 2]. CFTR is an anion channel that transports chloride and bicarbonate ions across apical epithelial cell membranes and works in tandem with other ion channels, including the epithelial sodium channel (ENaC).

Sep 10, 2024 | erj.ersjournals.com | James Chalmers |Michal Shteinberg |Marcus A. Mall |Anne O'Donnell

FootnotesThis manuscript has recently been accepted for publication in the European Respiratory Journal. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article.

Aug 7, 2024 | nature.com | Marcus A. Mall |Pierre-Régis Burgel

AbstractCystic fibrosis is a rare genetic disease caused by mutations in CFTR, the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR). The discovery of CFTR in 1989 has enabled the unravelling of disease mechanisms and, more recently, the development of CFTR-directed therapeutics that target the underlying molecular defect.

Mar 28, 2024 | erj.ersjournals.com | Mark O. Wielpütz |Marcus A. Mall

Footnotes Conflict of interest: M.A. Mall reports grants from German Ministry for Education and Research (BMBF), German Research Foundation (DFG), German Innovation Fund and Vertex Pharmaceuticals, consultancy fees from Abbvie, Antabio, Arrowhead, Boehringer Ingelheim, Enterprise Therapeutics, Kither Biotec, Prieris, Recode, Santhera, Splisense and Vertex Pharmaceuticals, lecture honoraria from Vertex Pharmaceuticals, travel support from Boehringer Ingelheim and Vertex Pharmaceuticals,...

Dec 15, 2023 | resmedjournal.com | Marc Miravitlles |Gerard J. Criner |Marcus A. Mall |Humboldt-Universität zu Berlin

Highlights •Acquired CFTR dysfunction, often induced by cigarette smoke exposure, may contribute to systemic comorbidities commonly seen in patients with COPD and the chronic bronchitis phenotype of COPD. •New CFTR modulating therapies may alter the pathophysiology of COPD and chronic bronchitis, in the lungs and systemically, to improve comorbidities.