FFC#6/2016

Understanding the mode of action of regulatory pathways controlling F508del-CFTR proteostasis and developing drugs that rescue F508del-CFTR by targeting these pathways synergistically

FFC#6/2016

Understanding the mode of action of regulatory pathways controlling F508del-CFTR proteostasis and developing drugs that rescue F508del-CFTR by targeting these pathways synergistically

PRINCIPAL INVESTIGATOR

Alberto Luini (Consiglio Nazionale delle Ricerche, Dipartimento Scienze Biomediche, Istituto di Biochimica Proteica, Napoli)

RESEARCHERS

4

CATEGORY

AREA 1 Therapies to correct the underlying defect

DURATION

2 years

GOAL

€ 100.000 €

RESULTS

Researchers proposed that MLK3 pathway acts on CFTR proteostasis by modulating the levels of machinery controlling proteostasis and small molecules targeting this pathway signaling can be potent correctors of F508del-CFTR proteostasis. So they identified the molecular mechanisms of this pathway and also gave evidence of repositionable drugs targeting this pathway as correctors to rescue F508del-CFTR. In particular, about MLK3 pathway, they found Insulin-induced gene (INSIG-1) to be an essential downstream executor of the proteostasis control by MLK3 pathway, but it is possible to inhibit its mechanism making CFTR-F508del insensitive to its action. They also screened several clinically approved (or safety approved after crossing Phase I trials) MLK3 pathway inhibitors as potential correctors of F508del-CFTR proteostasis and found 3 active compounds that restored proteostasis of F508del-CFTR as measured by biochemical maturation assays. Finally, they evaluated the mechanism of action of RNF215, an uncharacterized ubiquitin ligase previously identified, and demonstrated its downregulation also potently restored the chloride conductance in the F508del-CFTR expression. These analyses provide insights into CF pathology; provide specific targets to control F508del-CFTR proteostasis and also efficient small molecules regulators that can rescue F508del-CFTR.

OTHER RESULTS

FFC #3/2024

Two molecules are effective in activating Heat Shock Proteins and enhancing the action of CFTR correctors with the F508del mutation in vitro.

FFC#5/2024

Some peptide nucleic acids (PNAs) re-sensitise Pseudomonas aeruginosa to the antibiotic meropenem in vitro and reduce its virulence.

FFC#1/2023

Tezacaftor, one of the components of Kaftrio, induces an accumulation of dihydroceramides both in vitro and in vivo in animal models