Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.
about
Aminoglycosides and other nonsense suppression therapies for the treatment of dystrophinopathyThe effect of eukaryotic release factor depletion on translation termination in human cell linesClarifying lysosomal storage diseasesLess Is More: Substrate Reduction Therapy for Lysosomal Storage DisordersMoving towards effective therapeutic strategies for Neuronal Ceroid LipofuscinosisEvaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage DiseasesTranslational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivoAminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia.A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies.Synthetic aminoglycosides efficiently suppress cystic fibrosis transmembrane conductance regulator nonsense mutations and are enhanced by ivacaftorAminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells.Cystic fibrosis transmembrane conductance regulator protein repair as a therapeutic strategy in cystic fibrosisTranslational read-through as an alternative approach for ocular gene therapy of retinal dystrophies caused by in-frame nonsense mutations.Therapeutic approaches for lysosomal storage diseasesIncreased selectivity toward cytoplasmic versus mitochondrial ribosome confers improved efficiency of synthetic aminoglycosides in fixing damaged genes: a strategy for treatment of genetic diseases caused by nonsense mutationsNonsense-mediated decay in genetic disease: friend or foe?A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.Glutathione peroxidase-1 in health and disease: from molecular mechanisms to therapeutic opportunitiesSuppression of nonsense mutations as a therapeutic approach to treat genetic diseases.Suppression of CFTR premature termination codons and rescue of CFTR protein and function by the synthetic aminoglycoside NB54The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse.No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations.Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination CodonsSuppression of premature termination codons as a therapeutic approach.Production of beta-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous beta(0)39 thalassemia patients.Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VIRead-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophyDesigner aminoglycosides: the race to develop improved antibiotics and compounds for the treatment of human genetic diseases.Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension.G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.Nonaminoglycoside compounds induce readthrough of nonsense mutations.Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.Long-term nonsense suppression therapy moderates MPS I-H disease progression.Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases.Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.Use of RNA in drug design.New innovations: therapeutic opportunities for intellectual disabilities.Discovery of Clinically Approved Agents That Promote Suppression of Cystic Fibrosis Transmembrane Conductance Regulator Nonsense Mutations.Small molecules as therapeutic agents for inborn errors of metabolism.
P2860
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P2860
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.
description
2001 nî lūn-bûn
@nan
2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Gentamicin-mediated suppressio ...... lycosaminoglycan accumulation.
@ast
Gentamicin-mediated suppressio ...... lycosaminoglycan accumulation.
@en
type
label
Gentamicin-mediated suppressio ...... lycosaminoglycan accumulation.
@ast
Gentamicin-mediated suppressio ...... lycosaminoglycan accumulation.
@en
prefLabel
Gentamicin-mediated suppressio ...... lycosaminoglycan accumulation.
@ast
Gentamicin-mediated suppressio ...... lycosaminoglycan accumulation.
@en
P2093
P356
P1476
Gentamicin-mediated suppressio ...... lycosaminoglycan accumulation.
@en
P2093
P304
P356
10.1093/HMG/10.3.291
P577
2001-02-01T00:00:00Z