Lista de obras - Hiroki Morizono - Dominio Público Uruguay

'Late onset' ornithine transcarbamylase deficiency: function of three purified recombinant mutant enzymes.

artículo científico publicado en 1997

A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice

artículo científico publicado en 2016

A mutation-independent CRISPR-Cas9-mediated gene targeting approach to treat a murine model of ornithine transcarbamylase deficiency

artículo científico publicado en 2020

A novel bifunctional N-acetylglutamate synthase-kinase from Xanthomonas campestris that is closely related to mammalian N-acetylglutamate synthase.

artículo científico publicado en 2007

A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase ⬇️

artículo científico publicado el 17 de marzo de 2012

AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice.

artículo científico publicado en 2017

Acetylornithine transcarbamylase: a novel enzyme in arginine biosynthesis

scientific journal article

Adeno-associated virus antibody profiles in newborns, children, and adolescents

artículo científico publicado en 2011

Biochemical properties of recombinant human and mouse N-acetylglutamate synthase.

artículo científico publicado en 2006

Cloning and expression of the human N-acetylglutamate synthase gene

scientific journal article

Crystal structure of human ornithine transcarbamylase complexed with carbamoyl phosphate and L-norvaline at 1.9 A resolution

artículo científico publicado en 2000

Crystallization and preliminary X-ray crystallographic studies of wild-type human ornithine transcarbamylase and two naturally occurring mutants at position 277

artículo científico publicado en 2001

Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases

artículo científico publicado en 2017

Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene

artículo científico publicado en 2017

Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells

scientific article published on 18 July 2019

Enabling precision medicine via standard communication of HTS provenance, analysis, and results

scientific article published on 31 December 2018

Expression, purification, and characterization of recombinant human glutamine synthetase ⬇️

artículo científico publicado el 15 de noviembre de 1997

Expression, purification, crystallization and preliminary X-ray crystallographic studies of a novel acetylcitrulline deacetylase from Xanthomonas campestris

artículo científico publicado en 2005

GFAP mutations, age at onset, and clinical subtypes in Alexander disease

artículo científico publicado en 2011

Genome-wide profiling of differentially spliced mRNAs in human fetal cortical tissue exposed to alcohol

artículo científico publicado en 2017

Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.

artículo científico publicado en 1997

Identification, cloning and expression of the mouse N-acetylglutamate synthase gene

scientific journal article

Inversion of allosteric effect of arginine on N-acetylglutamate synthase, a molecular marker for evolution of tetrapods

artículo científico publicado en 2008

Long-term correction of ammonia metabolism and prolonged survival in ornithine transcarbamylase-deficient mice following liver-directed treatment with adeno-associated viral vectors.

artículo científico publicado en 2006

Mammalian N-acetylglutamate synthase

scientific journal article

Mechanism of Allosteric Inhibition of N-Acetyl-L-glutamate Synthase by L-Arginine

artículo científico publicado en 2009

Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene

artículo científico publicado en 2007

Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.

artículo científico publicado en 2006

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

artículo científico publicado en 2002

N-acetylglutamate synthase: structure, function and defects.

artículo científico publicado en 2010

Structures of N-acetylornithine transcarbamoylase from Xanthomonas campestris complexed with substrates and substrate analogs imply mechanisms for substrate binding and catalysis

artículo científico publicado en 2006

Sustained correction of OTC deficiency in spf( ash) mice using optimized self-complementary AAV2/8 vectors.

artículo científico publicado en 2011

Systematic evaluation of AAV vectors for liver directed gene transfer in murine models.

artículo científico publicado en 2009

The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.

artículo científico publicado en 1998

The clinically variable R40H mutant ornithine carbamoyltransferase shows cytosolic degradation of the precursor protein in CHO cells.

artículo científico publicado en 2001

The pleiotropic effects of natural AAV infections on liver-directed gene transfer in macaques

artículo científico publicado en 2009

The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter.

artículo científico publicado en 2005

Lista de obras de Hiroki Morizono

'Late onset' ornithine transcarbamylase deficiency: function of three purified recombinant mutant enzymes.

A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice

A mutation-independent CRISPR-Cas9-mediated gene targeting approach to treat a murine model of ornithine transcarbamylase deficiency

A novel bifunctional N-acetylglutamate synthase-kinase from Xanthomonas campestris that is closely related to mammalian N-acetylglutamate synthase.

A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase ⬇️

AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice.

Acetylornithine transcarbamylase: a novel enzyme in arginine biosynthesis

Adeno-associated virus antibody profiles in newborns, children, and adolescents

Biochemical properties of recombinant human and mouse N-acetylglutamate synthase.

Cloning and expression of the human N-acetylglutamate synthase gene

Crystal structure of human ornithine transcarbamylase complexed with carbamoyl phosphate and L-norvaline at 1.9 A resolution

Crystallization and preliminary X-ray crystallographic studies of wild-type human ornithine transcarbamylase and two naturally occurring mutants at position 277

Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases

Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene

Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells

Enabling precision medicine via standard communication of HTS provenance, analysis, and results

Expression, purification, and characterization of recombinant human glutamine synthetase ⬇️

Expression, purification, crystallization and preliminary X-ray crystallographic studies of a novel acetylcitrulline deacetylase from Xanthomonas campestris

GFAP mutations, age at onset, and clinical subtypes in Alexander disease

Genome-wide profiling of differentially spliced mRNAs in human fetal cortical tissue exposed to alcohol

Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.

Identification, cloning and expression of the mouse N-acetylglutamate synthase gene

Inversion of allosteric effect of arginine on N-acetylglutamate synthase, a molecular marker for evolution of tetrapods

Long-term correction of ammonia metabolism and prolonged survival in ornithine transcarbamylase-deficient mice following liver-directed treatment with adeno-associated viral vectors.

Mammalian N-acetylglutamate synthase

Mechanism of Allosteric Inhibition of N-Acetyl-L-glutamate Synthase by L-Arginine

Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene

Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

N-acetylglutamate synthase: structure, function and defects.

Structures of N-acetylornithine transcarbamoylase from Xanthomonas campestris complexed with substrates and substrate analogs imply mechanisms for substrate binding and catalysis

Sustained correction of OTC deficiency in spf( ash) mice using optimized self-complementary AAV2/8 vectors.

Systematic evaluation of AAV vectors for liver directed gene transfer in murine models.

The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.

The clinically variable R40H mutant ornithine carbamoyltransferase shows cytosolic degradation of the precursor protein in CHO cells.

The pleiotropic effects of natural AAV infections on liver-directed gene transfer in macaques

The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter.