Results 91 to 100 of about 1,231,622 (330)

Of muscle modulation and the CFTR gate [PDF]

Journal of General Physiology, 2015
This month’s installment of Generally Physiological considers regulation of excitation–contraction coupling by PIP2 and the investigation of an appealing hypothesis for how a transporter might evolve into a channel.
openaire   +2 more sources

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

Annals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai   +10 more
wiley   +1 more source

CFTR Modulator Therapy Enhances Peripheral Blood Monocyte Contributions to Immune Responses in People With Cystic Fibrosis

Frontiers in Pharmacology, 2020
BackgroundCFTR modulators decrease some etiologies of CF airway inflammation; however, data indicate that non-resolving airway infection and inflammation persist in individuals with CF and chronic bacterial infections.
Katherine B. Hisert, Katherine B. Hisert, Timothy P. Birkland, Kelly Q. Schoenfelt, Matthew E. Long, Brenda Grogan, Suzanne Carter, W. Conrad Liles, Edward F. McKone, Lev Becker, Anne M. Manicone, Sina A. Gharib   +11 more
doaj   +1 more source

Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8 [PDF]

, 1933
We report late diagnoses of cystic fibrosis (CF) in two men aged 61 and 65 years. At the time of presentation, both patients had significant pulmonary disease.
D. Peckham, S.P. Conway, A. Morton, A. Jones, K. Webb, McCloskey, Jezequel, Rodman, McKone, Friedman, Feldmann, Kiesewetter, Rosenbluth, Curnow, Chmiel, Massie, Padoan, Taylor   +17 more
core   +1 more source

The CFTR Amplifier Nesolicaftor Rescues TGF-β1 Inhibition of Modulator-Corrected F508del CFTR Function

International Journal of Molecular Sciences, 2022
Highly effective cystic fibrosis transmembrane conductance regulator (CFTR) modulators have led to dramatic improvements in lung function in many people with cystic fibrosis (PwCF). However, the efficacy of CFTR modulators may be hindered by persistent airway inflammation.
Charles Bengtson, Neerupma Silswal, Nathalie Baumlin, Makoto Yoshida, John Dennis, Sireesha Yerrathota, Michael Kim, Matthias Salathe   +7 more
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Optimization of pharmaceutical research and development by early‐phase assessment of investigational medicinal products

British Journal of Clinical Pharmacology, EarlyView.
Small and mid‐sized pharmaceutical innovators often have limited in‐house health economics and market access expertise, and may struggle to align development strategies of investigational medicinal products with health system needs and payer expectations.
Zoltán Kaló, Attila Imre, Gábor Varga, Sándor Kovács, György Tímár, Balázs Nagy   +5 more
wiley   +1 more source

Effects of CFTR Modulators on Pseudomonas aeruginosa Infections in Cystic Fibrosis

Infectious Disease Reports
Background: Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Camelia Corina Pescaru, Alexandru Florian Crișan, Adelina Marițescu, Vlad Cărunta, Monica Marc, Ștefan Dumitrache-Rujinski, Sorina Laitin, Cristian Oancea   +7 more
doaj   +1 more source

Molecular basis of cystic fibrosis and modern therapeutic approaches [PDF]

, 2019
Identifikacija molekularne povezanosti između genske nefunkcionalnosti CFTR gena te patofiziološke i kliničke pozadine cistične fibroze omogućila je razvoj suvremenih terapijskih modela koji su primarno utemeljeni na individualiziranom pristupu ...
Dragičević, Dorian
core   +2 more sources

Long‐term impact of Elexacaftor/Tezacaftor/ivacaftor on pulmonary, nutritional and metabolic outcomes in homozygous F508del cystic fibrosis patients: A real‐world cohort study

British Journal of Clinical Pharmacology, EarlyView.
Aim Elexacaftor/tezacaftor/ivacaftor (ETI) has markedly improved cystic fibrosis (CF) outcomes. However, its long‐term impact on nutrition, metabolism and liver health remains underexplored. We assessed 30‐month changes in pulmonary, nutritional, metabolic and inflammatory markers in people with CF (PwCF) homozygous for F508del.
Nicola Perrotta, Luigi Angelo Fiorito, Roberta Vescovo, Anna Virgilio, Giulia Amato, Giuseppe Cimino   +5 more
wiley   +1 more source

State-dependent modulation of CFTR gating by pyrophosphate [PDF]

Journal of General Physiology, 2009
Cystic fibrosis transmembrane conductance regulator (CFTR) is an adenosine triphosphate (ATP)-gated chloride channel. ATP-induced dimerization of CFTR's two nucleotide-binding domains (NBDs) has been shown to reflect the channel open state, whereas hydrolysis of ATP is associated with channel closure.
Tsai, Ming-Feng, Shimizu, Hiroyasu, Sohma, Yoshiro, Li, Min, Hwang, Tzyh-Chang   +4 more
openaire   +2 more sources