Articles with "nonsense suppression" as a keyword



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Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases

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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… read more here.

Keywords: skin diseases; suppression therapy; hereditary skin; nonsense suppression ... See more keywords
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Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome)

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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… read more here.

Keywords: suppression agent; nonsense suppression; triamterene functions; functions effective ... See more keywords