Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL …
C Sarkar, Z Zhang, AB Mukherjee - Molecular genetics and metabolism, 2011 - Elsevier
Infantile neuronal ceroid lipofuscinosis (INCL), a lethal hereditary neurodegenerative
lysosomal storage disorder, affects mostly children. It is caused by inactivating mutations in
the palmitoyl-protein thioesterase-1 (PPT1) gene. Nonsense mutations in a gene generate
premature termination codons producing truncated, nonfunctional or deleterious proteins.
PPT1 nonsense-mutations account for approximately 31% of INCL patients in the US.
Currently, there is no effective treatment for this disease. While aminoglycosides such as …
lysosomal storage disorder, affects mostly children. It is caused by inactivating mutations in
the palmitoyl-protein thioesterase-1 (PPT1) gene. Nonsense mutations in a gene generate
premature termination codons producing truncated, nonfunctional or deleterious proteins.
PPT1 nonsense-mutations account for approximately 31% of INCL patients in the US.
Currently, there is no effective treatment for this disease. While aminoglycosides such as …