2013
DOI: 10.4155/fmc.13.123
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Candidate Molecules for Chemical Chaperone Therapy of G M1 -Gangliosidosis

Abstract: A growing body of evidence suggests that misfolding of a mutant protein followed by its aggregation or premature degradation in the endoplasmic reticulum is one of the main mechanisms that underlie inherited neurodegenerative diseases, including lysosomal storage diseases. Chemical or pharmacological chaperones are small molecules that bind to and stabilize mutant lysosomal enzyme proteins in the endoplasmic reticulum. A number of chaperone compounds for lysosomal hydrolases have been identified in the last de… Show more

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Cited by 18 publications
(14 citation statements)
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“…Pharmacological chaperones were originally designed as competitive inhibitors of β-gal, promoting proper folding and stabilizing the enzyme in its active state for safe transport to the lysosome. 91,93,[178][179][180] Unstable mutant enzymes in the absence of PCs are rapidly processed by ER-associated protein degradation. In some cases, misfolding and aggregation of mutant β-gal leads to ER stress, the UPR, and apoptosis.…”
Section: Pharmacological Chaperonesmentioning
confidence: 99%
“…Pharmacological chaperones were originally designed as competitive inhibitors of β-gal, promoting proper folding and stabilizing the enzyme in its active state for safe transport to the lysosome. 91,93,[178][179][180] Unstable mutant enzymes in the absence of PCs are rapidly processed by ER-associated protein degradation. In some cases, misfolding and aggregation of mutant β-gal leads to ER stress, the UPR, and apoptosis.…”
Section: Pharmacological Chaperonesmentioning
confidence: 99%
“…19,26) Chaperone therapy is theoretically effective in 30–60% of patients with Fabry disease and G M1 -gangliosidosis patients. 28,29) …”
Section: Theoretical Background Of Chaperone Therapymentioning
confidence: 99%
“…29,47) Thus, the combination of NOEV and MTD118 will cover 60–70% of patients with G M1 -gangliosidosis, and hopefully those with Morquio B disease. Galactose was reported to be a potential chemical chaperone in some G M1 -gangliosidosis mutations as well as in Fabry disease.…”
Section: Chaperone Therapy For Lysosomal Diseasesmentioning
confidence: 99%
“…It can control blood glucose elevation, and various diseases caused by hyperglycemia, such as diabetes. In addition, it can effectively treat sclerosis, obesity, diabetes, and hyperlipidemia [2,3]. According to the specificity of chiral carbon atoms, valienamine has two isomers in its natural condition: valienamine and β-valienamine.…”
Section: Introductionmentioning
confidence: 99%