Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease

Molecular Syndromology

Volumn 3, Issue 5, 2012, Pages 230-236

  Perez B ^a   Rodriguez Pombo P ^a   Ugarte, M ^a   Desviat, L R ^a,b  

^a HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

Aminoglycosides; Ataluren; Inherited metabolic disease; Nonsense mutations; Readthrough drugs; Suppression therapy

Indexed keywords

AMIKACIN; AMINOGLYCOSIDE DERIVATIVE; ANTIBIOTIC G 418; ATALUREN; GENTAMICIN; HYGROMYCIN; KANAMYCIN; LIVIDOMYCIN; NB 30; NB 54; NB 74; NB 84; NEGAMYCIN; PAROMOMYCIN; RTC 13; RTC 14; SISOMICIN; STREPTOMYCIN; TC 007; TOBRAMYCIN; UNCLASSIFIED DRUG;

ALLELE; AUTOSOMAL RECESSIVE INHERITANCE; BECKER MUSCULAR DYSTROPHY; CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY; CONFERENCE PAPER; CYSTIC FIBROSIS; DISEASE SEVERITY; DRUG POTENCY; DUCHENNE MUSCULAR DYSTROPHY; ENZYME ACTIVITY; FEASIBILITY STUDY; HIGH THROUGHPUT SCREENING; HUMAN; HURLER SYNDROME; METABOLIC DISORDER; METHYLMALONIC ACIDURIA; MUCOPOLYSACCHARIDOSIS; MUTANT; NEPHROPATHIC CYSTINOSIS; NEPHROTOXICITY; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; NONSENSE MUTATION; OTOTOXICITY; OUTCOME ASSESSMENT; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; RARE DISEASE; SPINAL MUSCULAR ATROPHY;

EID: 84870842946     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000343086     Document Type: Conference Paper

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