A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III-Reference-Cited by-同舟云学术

A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III

Published:1995-01 Issue:1 Volume:25 Page:164-169
ISSN:0888-7543
Container-title:Genomics
language:en
Short-container-title:Genomics

Author:

Endo Fumio,Awata Hisataka,Katoh Hideki,Matsuda Ichiro

Publisher

Elsevier BV

Subject

Genetics

Reference43 articles.

1. Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type 1;Awata;Biochem. Biophys. Acta,1994

2. Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD);Awata;Genomics,1994

3. Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia;Berger;Clin. Chim. Acta,1981

4. 4-Hydroxyphenylpyruvate dioxygenase from pig liver;Buckthal;Methods Enzymol.,1987

5. The skipping of constitutive exons in vivo induced by nonsense mutations;Dietz;Science,1993

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3. In vivodissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1;2023-09-29

4. Genetically blocking HPD via CRISPR-Cas9 protects against lethal liver injury in a pig model of tyrosinemia type I;Molecular Therapy - Methods & Clinical Development;2021-06

5. HPD degradation regulated by the TTC36-STK33-PELI1 signaling axis induces tyrosinemia and neurological damage;Nature Communications;2019-09-19