Results 101 to 110 of about 477,265 (189)

FKBP5/FKBP51-mediated signaling pathways in neuropsychiatric diseases: Insights for biomarker development and targeted therapies

Neurobiology of Stress
The FK506-binding protein 5 gene encodes FKBP51, a molecular chaperone linked to the pathogenesis of neuropsychiatric diseases. Recent evidence shows that FKBP51 modulates activity of the HPA axis and GR-mediated feedback via dynamic interactions with GR,
Yinglong Liu, Jiahe Lian, Youli Fu, Shishan Wang, Yongxin Liu, Rui Zhang, Huirong Han   +6 more
doaj   +1 more source

Gaucher′s disease

Indian Journal of Endocrinology and Metabolism, 2011
Gaucher′s disease (GD) is the most common amongst the various disorders classified under the lysosomal storage disorders. GD is a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment.
Vijay Bohra, Velu Nair
doaj   +1 more source

Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant β-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson's Disease. [PDF]

Int J Mol Sci, 2023
Kopytova AE, Rychkov GN, Cheblokov AA, Grigor'eva EV, Nikolaev MA, Yarkova ES, Sorogina DA, Ibatullin FM, Baydakova GV, Izyumchenko AD, Bogdanova DA, Boitsov VM, Rybakov AV, Miliukhina IV, Bezrukikh VA, Salogub GN, Zakharova EY, Pchelina SN, Emelyanov AK.   +18 more
europepmc   +1 more source

A thermodynamic assay to test pharmacological chaperones for Fabry disease

Biochimica et Biophysica Acta (BBA) - General Subjects, 2014
The majority of the disease-causing mutations affect protein stability, but not functional sites and are amenable, in principle, to be treated with pharmacological chaperones. These drugs enhance the thermodynamic stability of their targets. Fabry disease, a disorder caused by mutations in the gene encoding lysosomal alpha-galactosidase, represents an ...
Giuseppina Andreotti a, Valentina Citro b, Antonella Correra b, c, Maria Vittoria Cubellis c, d   +5 more
openaire   +4 more sources

Chaperone expression profiles correlate with distinct physiological states of Plasmodium falciparum in malaria patients

Malaria Journal, 2010
Background Molecular chaperones have been shown to be important in the growth of the malaria parasite Plasmodium falciparum and inhibition of chaperone function by pharmacological agents has been shown to abrogate parasite growth.
Pallavi Rani, Acharya Pragyan, Chandran Syama, Daily Johanna P, Tatu Utpal   +4 more
doaj   +1 more source

Heparin octadecasaccharides influence iduronate-2-sulphatase activity in a mutation-dependent manner in Mucopolysaccharidosis type II

Life Sciences, Medicine and Biomedicine
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a lysosomal storage disorder caused by deficiency of iduronate-2-sulphatase (IDS), resulting in glycosaminoglycans (GAG) accumulation and progressive multi-system pathology.
Affandi Omar, Salina Abdul Rahman, Fatimah Diana Amin Nordin, Nur Azian Aziz, Siti Aishah Mohd Erham, Balqis Kamarudin, Rosnani Mohamed, Mohd Khairul Nizam Mohd Khalid, Nur Jannaim Muhamad, Lock Hock Ngu, Huey Yin Leong, Julaina Abdul Jalil, Mohd Shihabuddin Ahmad Noorden   +12 more
doaj   +1 more source

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

Orphanet Journal of Rare Diseases, 2012
Background Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A), which leads to globotriaosylceramide (GL-3) accumulation in multiple tissues.
Germain Dominique P, Giugliani Roberto, Hughes Derralynn A, Mehta Atul, Nicholls Kathy, Barisoni Laura, Jennette Charles J, Bragat Alexander, Castelli Jeff, Sitaraman Sheela, Lockhart David J, Boudes Pol F   +11 more
doaj   +1 more source

Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo [PDF]

, 2017
The recent approval of sapropterin dihydrochloride, the synthetic form of 6[R]-l-erythro-5,6,7,8-tetrahydrobiopterin (BH4), for the treatment of phenylketonuria (PKU) as the first pharmacological chaperone drug initiated a paradigm change in the ...
Lagler, Florian B., Staudigl, Michael, Domdey, Katharina A., Zsifkovits, Clemens, Danecka, Marta K., Messing, Dunja D., Eichinger, Anna, Fingerhut, Ralph, Glossmann, Hartmut, Kemter, Kristina F., Muntau, Ania C., Gersting, Søren W., Roscher, Adelbert A.   +12 more
core  

Conformationally-Locked N-Glycosides with Selective β-Glucosidase Inhibitory Activity: Identification of a New Non-Iminosugar-Type Pharmacological Chaperone for Gaucher Disease

, 2016
A series of conformationally locked N-glycosides having a cis-1,2-fused pyranose–1,3-oxazoline-2-thione structure and bearing different substituents at the exocyclic sulfur has been prepared.
Rocío Rísquez (2055811), Deysi Cruz (2055817), Sergio Castillón (1359687), Yoshiyuki Suzuki (3000), Yolanda Díaz (1818982), Eiji Nanba (229096), Katsumi Higaki (1776604), José M. García Fernández (1710094), Javier Castilla (2055814), Kousaku Ohno (1776619), Carmen Ortiz Mellet (1710091)   +10 more
core   +1 more source

Pharmacological chaperone-rescued cystic fibrosis CFTR-F508del mutant overcomes PRAF2-gated access to endoplasmic reticulum exit sites. [PDF]

Cell Mol Life Sci, 2022
Saha K, Chevalier B, Doly S, Baatallah N, Guilbert T, Pranke I, Scott MGH, Enslen H, Guerrera C, Chuon C, Edelman A, Sermet-Gaudelus I, Hinzpeter A, Marullo S.   +13 more
europepmc   +1 more source