Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies

P Fanen, A Wohlhuter-Haddad, A Hinzpeter - The international journal of …, 2014 - Elsevier
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis
transmembrane conductance regulator (CFTR) gene, which encodes an epithelial anion …

[HTML][HTML] Emerging therapeutic approaches for cystic fibrosis. From gene editing to personalized medicine

I Pranke, A Golec, A Hinzpeter, A Edelman… - Frontiers in …, 2019 - frontiersin.org
An improved understanding of the cystic fibrosis (CF) transmembrane conductance regulator
(CFTR) protein structure and the consequences of CFTR gene mutations have allowed the …

Modulators of CFTR. Updates on clinical development and future directions

…, B Chevalier, F Berhal, G Prestat, A Hinzpeter… - European journal of …, 2021 - Elsevier
Cystic fibrosis (CF) is the most frequent life-limiting autosomal recessive disorder in the
Caucasian population. It is due to mutations in the Cystic Fibrosis Transmembrane Conductance …

[HTML][HTML] Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators

…, M Mesbahi, E Girodon-Boulandet, A Hinzpeter… - Scientific reports, 2017 - nature.com
Clinical studies with modulators of the Cystic Fibrosis Transmembrane conductance Regulator
(CFTR) protein have demonstrated that functional restoration of the mutated CFTR can …

Prevention of interferon-alpha associated depression in psychiatric risk patients with chronic hepatitis C

…, M Schwaiger, AS Garkisch, M Pich, A Hinzpeter… - Journal of …, 2005 - Elsevier
Background/Aims: Interferon-alpha (IFN-α) induced depression is a major limitation for the
treatment of chronic hepatitis C, especially for patients with psychiatric disorders. We …

[PDF][PDF] Hepatitis C treatment in “difficult‐to‐treat” psychiatric patients with pegylated interferon‐alpha and ribavirin: response and psychiatric side effects

M Schaefer, A Hinzpeter, A Mohmand, G Janssen… - …, 2007 - Wiley Online Library
We investigated and compared the results of treating the chronic hepatitis C (HCV) infection
of different groups of psychiatric‐risk patients and controls with pegylated interferon alpha (…

Evidence for direct CFTR inhibition by CFTRinh-172 based on Arg347 mutagenesis

E Caci, A Caputo, A Hinzpeter, N Arous… - Biochemical …, 2008 - portlandpress.com
CFTR (cystic fibrosis transmembrane conductance regulator) is an epithelial Cl − channel
inhibited with high affinity and selectivity by the thiazolidinone compound CFTR inh -172. In …

Pharmacological chaperones improve intra-domain stability and inter-domain assembly via distinct binding sites to rescue misfolded CFTR

…, I Sermet-Gaudelus, I Callebaut, A Hinzpeter - Cellular and Molecular …, 2021 - Springer
Protein misfolding is involved in a large number of diseases, among which cystic fibrosis.
Complex intra- and inter-domain folding defects associated with mutations in the cystic fibrosis …

[HTML][HTML] Airway surface liquid acidification initiates host defense abnormalities in Cystic Fibrosis

…, JP Vrel, V Urbach, N Baatallah, A Hinzpeter… - Scientific reports, 2019 - nature.com
Cystic fibrosis (CF) is caused by defective Cystic Fibrosis Transmembrane Conductance
Regulator (CFTR) protein. Morbidity is mainly due to early airway infection. We hypothesized …

Theratyping cystic fibrosis patients to guide elexacaftor/tezacaftor/ivacaftor out-of-label prescription

…, C Marguet, A Edelman, A Hinzpeter… - European …, 2023 - Eur Respiratory Soc
Background Around 20% of people with cystic fibrosis (pwCF) do not have access to the triple
combination elexacaftor/tezacaftor/ivacaftor (ETI) in Europe because they do not carry the …