Studying CFTR Mutations Leading to Cystic Fibrosis and Elucidation of CFTR Modulator Mechanisms

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dc.contributor.advisorGoda, Katalin Klára
dc.contributor.authorMqatywa, Tshepang
dc.contributor.departmentDE--Természettudományi és Technológiai Kar--Biológiai és Ökológiai Intézet
dc.date.accessioned2023-05-10T10:48:12Z
dc.date.available2023-05-10T10:48:12Z
dc.date.created2023-05-09
dc.description.abstractCystic fibrosis (CF) is an autosomal reccessive Mendelian disorder that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene that encodes the 1480 glycoprotein is charectarised by over 2000 mutations that are classified into six classes. Clinical manifestations of CF varies among patients, due to the wide disease spectrum of this disorder that is found mostly in Caucasian population. Currently there is no cure for CF, but several symptomatic treatments, along with novel therapeutic approaches that include CFTR modulators such as correctors and potentiators are available. Additionally, next-generation CFTR modulators , along with gene therapy, gene editing and stem cell-based therapies are the prospective new approaches to CF treatment. Thus, although with some caveat, CF research is promising and hopefully one day CF will stand for ´Cure Found´.
dc.description.correctorLB
dc.description.courseBiology
dc.description.degreeBSc/BA
dc.format.extent54
dc.identifier.urihttps://hdl.handle.net/2437/352548
dc.language.isoen
dc.rights.accessHozzáférhető a 2022 decemberi felsőoktatási törvénymódosítás értelmében.
dc.subjectABC transporters
dc.subjectCFTR
dc.subjectModulators
dc.subject.dspaceDEENK Témalista::Biológiai tudományok
dc.titleStudying CFTR Mutations Leading to Cystic Fibrosis and Elucidation of CFTR Modulator Mechanisms
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