Candidate molecules for chemical chaperone therapy of GM1-gangliosidosis.

[gm1 gangliosidosis]

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 decade . They have gained attention because they can be orally administrated , and also because they can penetrate the blood -brain barrier . In this article , we describe two chaperone candidates for the treatment of GM 1 -gangliosidosis . We also discuss the future direction of this strategy targeting other lysosomal storage diseases as well as protein misfolding diseases in general .

Diseases
Validation

Diseases presenting "brain barrier" symptom

adrenomyeloneuropathy

benign recurrent intrahepatic cholestasis

canavan disease

classical phenylketonuria

fabry disease

gm1 gangliosidosis

hereditary cerebral hemorrhage with amyloidosis

krabbe disease

pyruvate dehydrogenase deficiency

x-linked adrenoleukodystrophy

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