Translational Read-Through Therapy of

Case-Control Studies Cells, Cultured Cilia / metabolism Codon, Nonsense / drug effects Eye Proteins / biosynthesis Genetic Diseases, X-Linked / drug therapy HEK293 Cells Hemizygote Humans Mutant Proteins / biosynthesis Oxadiazoles / therapeutic use Proof of Concept Study Protein Biosynthesis / drug effects RNA Stability Retinitis Pigmentosa / drug therapy
Ataluren PTC124 RPGR cilia cilium nonsense mutation read-through therapy stop mutation transcriptional therapy treatment

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
10 Nov 2020
Historique:
received: 06 10 2020
revised: 28 10 2020
accepted: 05 11 2020
entrez: 13 11 2020
pubmed: 14 11 2020
medline: 6 5 2021
Statut: epublish

Résumé

X-chromosomal retinitis pigmentosa (RP) frequently is caused by mutations in the retinitis pigmentosa GTPase regulator (

Identifiants

DOI: 10.3390/ijms21228418 PMID: 33182541 PMC: PMC7697989
pubmed: 33182541
pii: ijms21228418
doi: 10.3390/ijms21228418
pmc: PMC7697989
pii:
doi:

Substances chimiques

Codon, Nonsense 0
Eye Proteins 0
Mutant Proteins 0
Oxadiazoles 0
RPGR protein, human 0
ataluren K16AME9I3V

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Deutsche Forschungsgemeinschaft
ID : 1885/1-2
Organisme : Deutsche Forschungsgemeinschaft
ID : NA 1398/1-1
Organisme : FAUN Stiftung
ID : -
Organisme : ERARE17-114
ID : NE 2118/2-1

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Auteurs

Christine Vössing (C)

Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany.

Marta Owczarek-Lipska (M)

Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany.
ORCID: 0000-0001-6667-4452

Kerstin Nagel-Wolfrum (K)

Institute of Developmental Biology and Neurobiology, Johannes Gutenberg-University of Mainz, 55099 Mainz, Germany.
Institute of Molecular Physiology, Johannes Gutenberg-University of Mainz, 55099 Mainz, Germany.

Charlotte Reiff (C)

Eye Center, Albert-Ludwigs-University of Freiburg, 79106 Freiburg, Germany.

Christoph Jüschke (C)

Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany.

John Neidhardt (J)

Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany.
Research Center Neurosensory Science, University of Oldenburg, 26129 Oldenburg, Germany.
Joint Research Training Group of the Faculty of Medicine and Health Sciences, University of Oldenburg, Germany and the University Medical Center Groningen, 9700 Groningen, The Netherlands.

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Classifications MeSH

questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études cas-témoins › Translational Read-Through Therapy of
questionsmedicales.fr › Cellules › Cellules cultivées › Translational Read-Through Therapy of
questionsmedicales.fr › Cellules › Structures cellulaires › Prolongements cytoplasmiques › Cils vibratiles › Translational Read-Through Therapy of
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Codon non-sens › Translational Read-Through Therapy of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de l'oeil › Translational Read-Through Therapy of
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies génétiques liées au chromosome X › Translational Read-Through Therapy of
questionsmedicales.fr › Cellules › Cellules épithéliales › Cellules HEK293 › Translational Read-Through Therapy of
questionsmedicales.fr › Phénomènes génétiques › Génotype › Hémizygote › Translational Read-Through Therapy of
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Translational Read-Through Therapy of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines mutantes › Translational Read-Through Therapy of
questionsmedicales.fr › Composés hétérocycliques › Composés hétéromonocycliques › Azoles › Oxazoles › Oxadiazoles › Translational Read-Through Therapy of
questionsmedicales.fr › Disciplines des sciences naturelles › Science › Recherche › Étude de validation de principe › Translational Read-Through Therapy of
questionsmedicales.fr › Phénomènes génétiques › Expression des gènes › Biosynthèse des protéines › Translational Read-Through Therapy of
questionsmedicales.fr › Phénomènes chimiques › Phénomènes biochimiques › Stabilité de l'ARN › Translational Read-Through Therapy of
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies héréditaires de l'oeil › Rétinite pigmentaire › Translational Read-Through Therapy of