Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.

Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.

Item
http://www.wikidata.org/entity/Q37480537
Attenuation of nonsense-mediated mRNA decay enhances in vivo nonsense suppressionDecreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndromeCharacterization of the MPS I-H knock-in mouse reveals increased femoral biomechanical integrity with compromised material strength and altered bone geometryAtaluren treatment of patients with nonsense mutation dystrophinopathy.Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse.Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination CodonsLong-term nonsense suppression therapy moderates MPS I-H disease progression.Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies.Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases.Animal models of human genetic diseases: do they need to be faithful to be useful?Mucopolysaccharidosis type I: current knowledge on its pathophysiological mechanisms.Engineering subtle targeted mutations into the mouse genome.Fast, sensitive method for trisaccharide biomarker detection in mucopolysaccharidosis type 1.
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Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.

Item
http://www.wikidata.org/entity/Q37480537
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on January 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Characterization of an MPS I-H ...... the human IDUA-W402X mutation.
@en
Characterization of an MPS I-H ...... the human IDUA-W402X mutation.
@nl
type
label
Characterization of an MPS I-H ...... the human IDUA-W402X mutation.
@en
Characterization of an MPS I-H ...... the human IDUA-W402X mutation.
@nl
prefLabel
Characterization of an MPS I-H ...... the human IDUA-W402X mutation.
@en
Characterization of an MPS I-H ...... the human IDUA-W402X mutation.
@nl
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P1476
P2093
P2860
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P478
P50
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P5875
P698
P921
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P1433
P1476
Characterization of an MPS I-H ...... the human IDUA-W402X mutation
@en
P2093
P2860
P304
P31
P356
10.1016/J.YMGME.2009.08.002
P433
P478
P50
P577
P5875
P698
P921
P932