Results 11 to 20 of about 16,862 (246)
Galactosemia: Towards Pharmacological Chaperones. [PDF]
J Pers Med, 2021 Galactosemia is a rare inherited metabolic disease resulting from mutations in the four genes which encode enzymes involved in the metabolism of galactose. The current therapy, the removal of galactose from the diet, is inadequate. Consequently, many patients suffer lifelong physical and cognitive disability.
Banford S +3 more
europepmc +5 more sources
Molecular and pharmacological chaperones for SOD1. [PDF]
Biochem Soc Trans, 2020 The efficacy of superoxide dismutase-1 (SOD1) folding impacts neuronal loss in motor system neurodegenerative diseases. Mutations can prevent SOD1 post-translational processing leading to misfolding and cytoplasmic aggregation in familial amyotrophic lateral sclerosis (ALS).
Wright GSA.
europepmc +4 more sources
Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses. [PDF]
Int J Mol Sci, 2019 The mucopolysaccharidoses (MPS) are a group of 11 lysosomal storage diseases (LSDs) produced by mutations in the enzymes involved in the lysosomal catabolism of glycosaminoglycans. Most of the mutations affecting these enzymes may lead to changes in processing, folding, glycosylation, pH stability, protein aggregation, and defective transport to the ...
Losada Díaz JC +3 more
europepmc +4 more sources
Pharmacological chaperoning: A primer on mechanism and pharmacology [PDF]
Pharmacological Research, 2014 Approximately forty percent of diseases are attributable to protein misfolding, including those for which genetic mutation produces misfolding mutants. Intriguingly, many of these mutants are not terminally misfolded since native-like folding, and subsequent trafficking to functional locations, can be induced by target-specific, small molecules ...
Nancy J, Leidenheimer, Katelyn G, Ryder
openaire +2 more sources
Pharmacological Targeting of the Hsp70 Chaperone [PDF]
Current Topics in Medicinal Chemistry, 2009 The molecular chaperone, heat shock protein 70 (Hsp70), acts at multiple steps in a protein's life cycle, including during the processes of folding, trafficking, remodeling and degradation. To accomplish these various tasks, the activity of Hsp70 is shaped by a host of co-chaperones, which bind to the core chaperone and influence its functions. Genetic
Srikanth, Patury +2 more
openaire +2 more sources
Carnitine is a pharmacological allosteric chaperone of the human lysosomal α-glucosidase
Journal of Enzyme Inhibition and Medicinal Chemistry, 2021 Pompe disease is an inherited metabolic disorder due to the deficiency of the lysosomal acid α-glucosidase (GAA). The only approved treatment is enzyme replacement therapy with the recombinant enzyme (rhGAA).
Roberta Iacono +12 more
doaj +1 more source
Pharmacological chaperones in the age of proteomic pathology. [PDF]
Proc Natl Acad Sci U S A, 2014 In the age of “big data,” where thousands of proteins or protein precursors can be interrogated and assembled into large-scale networks, it is still the case that in the setting of disease singular proteins act as hubs in driving pathology (1). Once identified, a pathogenic protein—which can be deficient, dysfunctional, or even overly abundant—becomes ...
Small SA.
europepmc +4 more sources
Pharmacological Chaperones Attenuate the Development of Opioid Tolerance. [PDF]
Int J Mol Sci, 2020 Opioids are potent analgesics widely used to control acute and chronic pain, but long-term use induces tolerance that reduces their effectiveness. Opioids such as morphine bind to mu opioid receptors (MORs), and several downstream signaling pathways are capable of inducing tolerance. We previously reported that signaling from the endoplasmic reticulum (
Okuyama Y, Jin H, Kokubun H, Aoe T.
europepmc +4 more sources
Mechanistic Insights into Dibasic Iminosugars as pH-Selective Pharmacological Chaperones to Stabilize Human α‑Galactosidase [PDF]
JACS AuHuang-Yi Li +8 more
doaj +2 more sources
Molecules, 2020 Glycosidase inhibitors have shown great potential as pharmacological chaperones for lysosomal storage diseases. In light of this, a series of new cyclopentanoid β-galactosidase inhibitors were prepared and their inhibitory and pharmacological chaperoning
Patrick Weber +18 more
doaj +1 more source