Explanipedia

Barriers to the Pharmacologic Rescue of W1282X CFTR Open

Candela Manfredi, András Rab, Disha Joshi, Amanda Winters, JaNise J Jackson , et al. · 2025

W1282X CFTR is the most prevalent CF-causing variant among cystic fibrosis patients of Ashkenazi descent and a mutational defect for which targeted drug therapy is not available. We show that administration of the potentiator VX-770 can au…

Palliative care in pulmonary hypertension: A systematic review and meta-analysis Open

András Rab, Asim Shaikh, Gokhan Anil, Munish Sharma · 2025

BACKGROUND Pulmonary arterial hypertension (PAH) is a debilitating and progressive pulmonary pathology that often leads to death. Guidelines recommend the use of palliative care (PC) early in the treatment course to ease the burden of symp…

A novel drug series optimized to address cystic fibrosis and other CFTR deficiency diseases of human airways Open

András Rab, Jeong S. Hong, Candela Manfredi, Disha Joshi, S. Ponnaluri , et al. · 2025

Generation of Region-specific Airway Basal Stem Cells from Human Pluripotent Stem Cells via Regulation of BMP-NOGGIN Axis Open

Shingo Suzuki, Nicole Sandoval, S. Doddipalli, D. Hassan, C. Barillà , et al. · 2025

SUMMARY Recent studies have mapped substantial regional differences between human proximal and distal airway cell types, including basal cells (BCs) – the primary stem cell population in human adult airways. Regionally distinct airway basa…

Exploring the Outcomes of Gallbladder Perforation: A Retrospective Observational Study Open

Shaan Hassan, Hemant J. Purohit, András Rab, Samir Talib · 2025

Introduction: Gallbladder Perforation (GBP) is one of the most dangerous consequences of acute cholecystitis. It presents in a variety of ways, leading to diagnostic dilemmas and posing management challenges. There is high morbidity and mo…

Evaluating elexacaftor/tezacaftor/ivacaftor (ETI; Trikafta™) for treatment of patients with non-cystic fibrosis bronchiectasis (NCFBE): A clinical study protocol Open

Colin E. Swenson, William R. Hunt, Candela Manfredi, Diana J. Beltran, Jeong S. Hong , et al. · 2025

Background Non-cystic fibrosis bronchiectasis (NCFBE) is a disease that exhibits dilatation of airways, airflow obstruction, persistent cough, excessive sputum production, and refractory respiratory infections. NCFBE exhibits clinical and …

Curriculum interventional cardiology—Austria Open

A. Kammerlander, Rudolf Berger, Ronald K. Binder, Jakob Dörler, Matthias Frick , et al. · 2024

Derivation of Airway Basal Stem Cells from Human Pluripotent Stem Cells Open

F. Hawkins, Samuel Suzuki, M.L Beermann, C. Barillà, R. Wang , et al. · 2024

Hawkins and colleagues report a directed differentiation protocol enabling the derivation of airway basal cells (“iBCs”) from human iPSCs. iBCs recapitulate hallmark stem cell properties of primary basal cells, including self-renewal and m…

Translation velocity determines the efficacy of engineered suppressor tRNAs on pathogenic nonsense mutations Open

Nikhil Bharti, Leonardo Santos, Marcos Davyt, Stine Behrmann, Marie Eichholtz , et al. · 2024

Elexacaftor-Tezacaftor-Ivacaftor Improves Clinical Outcomes in Individuals with CF Encoding N1303K CFTR Open

George M. Solomon, Rachel W. Linnemann, Rachel Rich, Ashleigh Streby, Brian Buehler , et al. · 2024

Impact of trial results and guidelines on the practice of Primary PCI over 14 years Open

Jakob Doerler, Michael Edlinger, Hannes Alber, Rudolf Berger, Ronald K. Binder , et al. · 2023

Aim We aimed to present an overview of changes in daily practice of primary PCI in relation to on the growing evidence in device and adjunctive pharmacologic therapy. Methods and results Clinical outcomes, data on treatment as well as char…

326 Modulator response of rare CFTR missense variants not approved for elexacaftor-tezacaftor-ivacaftor Open

Deepak Joshi, András Rab, Eric J. Sorscher, Jeong S. Hong · 2023

259 Induced pluripotent stem cell–derived airway basal cells that exhibit greater competence for multipotent differentiation Open

Samuel Suzuki, N. Acosta Sandoval, S. Doddipalli, C. Barillà, D. Hassan , et al. · 2023

242 An open-label trial to evaluate elexacaftor-tezacaftor-ivacaftor and induced pluripotent stem cell–derived model systems in individuals with residual CFTR activity Open

Rachel W. Linnemann, George M. Solomon, Shingo Suzuki, András Rab, C. Barillà , et al. · 2023

280 Induced pluripotent stem cell–based airway epithelial platform for investigating personalized responses to CFTR modulators Open

C. Barillà, András Rab, Shunji Suzuki, Richard Bertrand, Stefan Winkler , et al. · 2023

A Novel 7<i>H</i>-[1,2,4]Triazolo[3,4-<i>b</i>]thiadiazine-based Cystic Fibrosis Transmembrane Conductance Regulator Potentiator Directed toward Treatment of Cystic Fibrosis Open

András Rab, Yang Xun, William F. Tracy, Jeong S. Hong, Disha Joshi , et al. · 2023

Cystic fibrosis (CF) is an autosomal genetic disorder caused by disrupted anion transport in epithelial cells lining tissues in the human airways and digestive system. While cystic fibrosis transmembrane conductance regulator (CFTR) modula…

Elexacaftor/VX-445–mediated CFTR interactome remodeling reveals differential correction driven by mutation-specific translational dynamics Open

Minsoo Kim, Eli Fritz McDonald, Carleen Mae P. Sabusap, Bibek Timalsina, Disha Joshi , et al. · 2023

Cystic fibrosis (CF) is one of the most prevalent lethal genetic diseases with over 2000 identified mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Pharmacological chaperones such as lumacaftor (VX-809), t…

Elexacaftor/VX-445-mediated CFTR interactome remodeling reveals differential correction driven by mutation-specific translational dynamics Open

Minsoo Kim, Eli Fritz McDonald, Carleen Mae P. Sabusap, Bibek Timalsina, Disha Joshi , et al. · 2023

Cystic fibrosis (CF) is one of the most prevalent lethal genetic diseases with over 2000 identified mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Pharmacological chaperones such as Lumacaftor (VX-809), T…

Targeted Gene Insertion for Functional CFTR Restoration in Airway Epithelium Open

C. Barillà, Shingo Suzuki, András Rab, Eric J. Sorscher, Brian R. Davis · 2022

Cystic Fibrosis (CF) is caused by a diverse set of mutations distributed across the approximately 250 thousand base pairs of the CFTR gene locus, of which at least 382 are disease-causing ( CFTR2.org ). Although a variety of editing tools …

623: Elexacaftor/VX-445-mediated CFTR interactomic remodeling of misfolding mutations Open

M. Kim, Carleen Mae P. Sabusap, Elizabeth C. McDonald, Deepak Joshi, Jenny H. Hong , et al. · 2021

531: Identification of a compound that mediates readthrough of CFTR nonsense mutations by reducing eRF1 levels Open

David M. Bedwell, Jyoti Sharma, Ming Du, Eric C. Wong, Venkateshwar Mutyam , et al. · 2021

619: Factors that influence CFTR modulator response in cell culture systems predictive of clinical benefit Open

C. Manfredi, Drashti Joshi, András Rab, Eric J. Sorscher, Jaewoo Hong · 2021

581: YOR1 modeling of CFTR nonsense variants to discover effects of genetic factors and sequence context on efficacy of PTC suppression Open

E. Gaines, R. Mancinone, Sophie Laflin, W. Wang, Steven M. Rowe , et al. · 2021

667: Development of an iPSC-based airway epithelial platform for evaluating patient-specific responses to modulators Open

C. Barillà, Samuel Suzuki, András Rab, B. Wang, Jeong S. Hong , et al. · 2021

638: Demonstration of pharmacologic N1303 K CFTR rescue in heterologous and human tissue-based model systems Open

John J. Brewington, Jhen-Jie Hong, C. Manfredi, András Rab, Deepak Joshi , et al. · 2021

A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion Open

Jyoti Sharma, Ming Du, Eric C. Wong, Venkateshwar Mutyam, Yao Li , et al. · 2021

Stability Prediction for Mutations in the Cytosolic Domains of Cystic Fibrosis Transmembrane Conductance Regulator Open

Malkeet Singh Bahia, Netaly Khazanov, Qingxian Zhou, Zhengrong Yang, Chi Chiu Wang , et al. · 2021

Cystic Fibrosis (CF) is caused by mutations to the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) chloride channel. CFTR is composed of two membrane spanning domains, two cytosolic nucleotide-binding domains (NBD1 and NBD2) and…

The CFTR P67L variant reveals a key role for N-terminal lasso helices in channel folding, maturation, and pharmacologic rescue Open

Carleen Mae P. Sabusap, Disha Joshi, Luba Simhaev, Kathryn E. Oliver, Hanoch Senderowitz , et al. · 2021

Derivation of Airway Basal Stem Cells from Human Pluripotent Stem Cells Open

Finn Hawkins, Shingo Suzuki, Mary Lou Beermann, C. Barillà, Ruobing Wang , et al. · 2020

G551D mutation impairs PKA-dependent activation of CFTR channel that can be restored by novel GOF mutations Open

Wei Wang, Lianwu Fu, Zhiyong Liu, Hui Wen, András Rab , et al. · 2020

G551D is a major disease-associated gating mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) protein, an ATP- and phosphorylation-dependent chloride channel. G551D causes severe cystic fibrosis (CF) disease by disr…

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