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1
Published in 2022 at "Acta Dermato-Venereologica"
DOI: 10.2340/actadv.v102.353
Abstract: Nonsense mutations cause the premature termination of protein translation via premature termination codons (PTCs), leading to the synthesis of incomplete functional proteins and causing large numbers of genetic disorders. The emergence of nonsense suppression therapy…
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Keywords:
skin diseases;
suppression therapy;
hereditary skin;
nonsense suppression ... See more keywords
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2
Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24054521
Abstract: Mucopolysaccharidosis I-Hurler (MPS I-H) is caused by the loss of α-L-iduronidase, a lysosomal enzyme that degrades glycosaminoglycans. Current therapies cannot treat many MPS I-H manifestations. In this study, triamterene, an FDA-approved, antihypertensive diuretic, was found…
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Keywords:
suppression agent;
nonsense suppression;
triamterene functions;
functions effective ... See more keywords