Results 31 to 40 of about 16,862 (246)

Structural Comparative Modeling of Multi-Domain F508del CFTR

Biomolecules, 2022
Cystic fibrosis (CF) is a rare genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR), an epithelial anion channel expressed in several vital organs.
Eli Fritz McDonald, Hope Woods, Shannon T. Smith, Minsoo Kim, Clara T. Schoeder, Lars Plate, Jens Meiler   +6 more
doaj   +1 more source

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

Orphanet Journal of Rare Diseases, 2010
Background The pharmacological chaperones therapy is a promising approach to cure genetic diseases. It relies on substrate competitors used at sub-inhibitory concentration which can be administered orally, reach difficult tissues and have low cost ...
Correra Antonella, Cammisa Marco, Guarracino Mario R, Andreotti Giuseppina, Cubellis Maria   +4 more
doaj   +1 more source

Design of a New α-1-C-Alkyl-DAB Derivative Acting as a Pharmacological Chaperone for β-Glucocerebrosidase Using Ligand Docking and Molecular Dynamics Simulation

Molecules, 2018
Some point mutations in β-glucocerebrosidase cause either improper folding or instability of this protein, resulting in Gaucher disease. Pharmacological chaperones bind to the mutant enzyme and stabilize this enzyme; thus, pharmacological chaperone ...
Izumi Nakagome, Atsushi Kato, Noriyuki Yamaotsu, Tomoki Yoshida, Shin-ichiro Ozawa, Isao Adachi, Shuichi Hirono   +6 more
doaj   +1 more source

Pharmacological Chaperones for the Treatment of α-Mannosidosis [PDF]

Journal of Medicinal Chemistry, 2019
α-Mannosidosis (AM) results from deficient lysosomal α-mannosidase (LAMAN) activity and subsequent substrate accumulation in the lysosome, leading to severe pathology. Many of the AM-causative mutations compromise enzyme folding and could be rescued with purpose-designed pharmacological chaperones (PCs).
Rocío Rísquez-Cuadro, Reimi Matsumoto, Fernando Ortega-Caballero, Eiji Nanba, Katsumi Higaki, José Manuel García Fernández, Carmen Ortiz Mellet   +6 more
openaire   +5 more sources

Development of selective nanomolar cyclic peptide ligands as GBA1 enzyme stabilisers† [PDF]

RSC Chemical Biology
The stabilisation of recombinant glycosidases by exogenous ligands, known as pharmacological chaperones or enzyme stabilisers, has recently garnered great clinical interest.
Rebecca E. Katzy, Renier H. P. van Neer, Maria J. Ferraz, Kim Nicolai, Toby Passioura, Hiroaki Suga, Seino A. K. Jongkees, Marta Artola   +7 more
doaj   +1 more source

Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases

Frontiers in Endocrinology, 2022
G protein-coupled receptors (GPCRs) are plasma membrane proteins associated with an array of functions. Mutations in these receptors lead to a number of genetic diseases, including diseases involving the endocrine system.
Alfredo Ulloa-Aguirre, Teresa Zariñán, Rubén Gutiérrez-Sagal, Ya-Xiong Tao   +3 more
doaj   +1 more source

Modulation of Human Phenylalanine Hydroxylase by 3-Hydroxyquinolin-2(1H)-One Derivatives

Biomolecules, 2021
Phenylketonuria (PKU) is a genetic disease caused by deficient activity of human phenylalanine hydroxylase (hPAH) that, when untreated, can lead to severe psychomotor impairment.
Raquel R. Lopes, Catarina S. Tomé, Roberto Russo, Roberta Paterna, João Leandro, Nuno R. Candeias, Lídia M. D. Gonçalves, Miguel Teixeira, Pedro M. F. Sousa, Rita C. Guedes, João B. Vicente, Pedro M. P. Gois, Paula Leandro   +12 more
doaj   +1 more source

Phenylalanine hydroxylase misfolding and pharmacological chaperones. [PDF]

Curr Top Med Chem, 2012
Phenylketonuria (PKU) is a loss-of-function inborn error of metabolism. As many other inherited diseases the main pathologic mechanism in PKU is an enhanced tendency of the mutant phenylalanine hydroxylase (PAH) to misfold and undergo ubiquitin-dependent degradation. Recent alternative approaches with therapeutic potential for PKU aim at correcting the
Underhaug J, Aubi O, Martinez A.
europepmc   +4 more sources

Rescue of Misfolded Organic Cation Transporter 3 Variants

Cells, 2022
Organic cation transporters (OCTs) are membrane proteins that take up monoamines, cationic drugs and xenobiotics. We previously reported novel missense mutations of organic cation transporter 3 (OCT3, SLC22A3), some with drastically impacted transport ...
Thomas J. F. Angenoorth, Julian Maier, Stevan Stankovic, Shreyas Bhat, Sonja Sucic, Michael Freissmuth, Harald H. Sitte, Jae-Won Yang   +7 more
doaj   +1 more source

What are pharmacological chaperones and why are they interesting? [PDF]

Journal of Biology, 2009
We should have said, reversible inhibitor. That is the key to the use of active-site-directed ligands as pharmacological chaperones. An inhibitor that binds irreversibly to a target protein takes that protein out of circulation, activity-wise. But a reversible inhibitor always allows the presence of some equilibrium amount of free enzyme [12], which is
Ringe, Dagmar, Petsko, Gregory A
openaire   +2 more sources