Aminoglycoside-mediated suppression of nonsensemutations in late infantile neuronal ceroid lipofuscinosis
DE Sleat, I Sohar, RM Gin, P Lobel - European Journal of Paediatric …, 2001 - Elsevier
The ability of aminoglycoside antibiotics to promote readthrough of eukaryotic stop codons
has attracted interest in these drugs as potential therapeutic agents in human disorders
caused by nonsense mutations. One disease for which such a therapeutic strategy may be
viable is classical late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal childhood
neurodegenerative disorder with currently no effective treatment. Premature stop codon
mutations in the gene CLN2 encoding the lysosomal tripeptidyl-peptidase I (TPP-I) are …
has attracted interest in these drugs as potential therapeutic agents in human disorders
caused by nonsense mutations. One disease for which such a therapeutic strategy may be
viable is classical late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal childhood
neurodegenerative disorder with currently no effective treatment. Premature stop codon
mutations in the gene CLN2 encoding the lysosomal tripeptidyl-peptidase I (TPP-I) are …
