Article
The therapeutic potential of pharmacological chaperones and proteosomal inhibitors, Celastrol and MG132 in the treatment of sialidosis.
Molecular genetics and metabolism - 1 Sept 2012
O'Leary Erin M, Igdoura Suleiman A
Abstract excerpt
Sialidosis is an autosomal recessive disorder caused by a dysfunctional Sialidase enzyme. Categorised into two phenotypes, Sialidosis type I and II, Sialidosis is a highly heterogeneous disorder with varying ages of onset and pathologies. Currently, there is no viable therapy for the treatment of Sialidosis patients. At the molecular level, cells from Sialidosis patients with compound heterozygous mutations show...
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