H. Morizono

发表

Structure and Catalytic Mechanism of a Novel N-Succinyl-l-ornithine Transcarbamylase in Arginine Biosynthesis of Bacteroides fragilis*

D. Shi, H. Morizono, Juan Cabrera-Luque, 2006, Journal of Biological Chemistry.

Baseline human gut microbiota profile in healthy people and standard reporting template

Brian C. Fochtman, K. Crandall, H. Morizono, 2018, bioRxiv.

Baseline human gut microbiota profile in healthy people and standard reporting template

Konstantinos Krampis, Raja Mazumder, Keith A Crandall, 2018, bioRxiv.

Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane

H. Morizono, M. Tuchman, J. Jaiswal, 2020, bioRxiv.

A single mutation in the active site swaps the substrate specificity of N‐acetyl‐L‐ornithine transcarbamylase and N‐succinyl‐L‐ornithine transcarbamylase

D. Shi, H. Morizono, Juan Cabrera-Luque, 2007, Protein science : a publication of the Protein Society.

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

H. Morizono, N. Pattabiraman, J. Jaiswal, 2019, Cell Death Discovery.

Ornithine Transcarbamylase Deficiency

H. Morizono, L. Caldovic, U. Lichter-Konecki, 2016 .

The Crystal Structure of N-Acetyl-L-glutamate Synthase from Neisseria gonorrhoeae Provides Insights into Mechanisms of Catalysis and Regulation*

D. Shi, H. Morizono, Xiaolin Yu, 2008, Journal of Biological Chemistry.

N-acetylglutamate synthase: structure, function and defects.

D. Shi, H. Morizono, M. Tuchman, 2010, Molecular genetics and metabolism.

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

D. Shi, H. Morizono, M. Tuchman, 2007, BMC Biochemistry.

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

H. Morizono, A. Vanderver, R. Schiffmann, 2011, Neurology.

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

Yang Yang, Deirdre McMenamin, Peter Bell, 2016, Nature Biotechnology.

Sustained Correction of OTC Deficiency in Spf ash mice Using Optimized Self-complementary AAV2/8 Vectors

H. Morizono, Lili Wang, Huan Wang, 2011, Gene Therapy.

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

H. Morizono, James M. Wilson, R. McCarter, 2006, Molecular therapy : the journal of the American Society of Gene Therapy.

Expression of Wild-Type and Mutant Human Ornithine Transcarbamylase Genes in Chinese Hamster Ovary Cells and Lack of Dominant Negative Effect of R141Q and R40H Mutants

H. Morizono, M. Tuchman, L. Augustin, 2000, Pediatric Research.

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

H. Morizono, M. Tuchman, Qiuhao Qu, 2008, BMC Biochemistry.

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

D. Shi, H. Morizono, Xiaolin Yu, 2005, Acta crystallographica. Section F, Structural biology and crystallization communications.

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

D. Shi, H. Morizono, Xiaolin Yu, 2002, The Biochemical journal.

The functional impact of 1,570 SNP-accessible missense variants in human OTC

H. Morizono, A. Dudley, R. McLaughlin, 2022, bioRxiv.

Adeno-Associated Virus Antibody Profiles in Newborns, Children, and Adolescents

H. Morizono, Lili Wang, James M. Wilson, 2011, Clinical and Vaccine Immunology.

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

Gil Alterovitz, Carole Goble, Stian Soiland-Reyes, 2017, bioRxiv.

Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase

H. Morizono, M. Tuchman, L. Caldovic, 2021, Scientific Reports.

Impaired ureagenesis due to arginine-insensitive N-acetylglutamate synthase

H. Morizono, M. Tuchman, L. Caldovic, 2018, bioRxiv.

Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia

H. Morizono, M. Tuchman, S. Packman, 2003, Human Genetics.

Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate.

H. Morizono, M. Tuchman, M. Yudkoff, 2004, The Journal of pediatrics.

Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome.

H. Morizono, Lili Wang, James M. Wilson, 2012, Molecular genetics and metabolism.

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

H. Morizono, M. Tuchman, L. Caldovic, 2012, Molecular genetics and metabolism.

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

H. Morizono, Lili Wang, Huan Wang, 2010, Molecular therapy : the journal of the American Society of Gene Therapy.

Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA

H. Morizono, R. Finkel, Y. Hathout, 2017, Neuromuscular Disorders.

Late onset N‐acetylglutamate synthase deficiency caused by hypomorphic alleles

D. Shi, H. Morizono, M. Tuchman, 2005, Human mutation.

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

H. Morizono, M. Tuchman, L. Caldovic, 2007, Human mutation.

Cloning and expression of the human N-acetylglutamate synthase gene.

D. Shi, H. Morizono, Xiaolin Yu, 2002, Biochemical and biophysical research communications.

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

H. Morizono, N. Pattabiraman, J. Jaiswal, 2019, Cell Death Discovery.

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.

H. Morizono, M. Tuchman, L. Caldovic, 2015, Journal of genetics and genomics = Yi chuan xue bao.

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

Hiroki Morizono, H. Morizono, M. Tuchman, 2006, Human mutation.

Mammalian N-acetylglutamate synthase.

D. Shi, H. Morizono, M. Tuchman, 2004, Molecular genetics and metabolism.

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

Mingyao Li, H. Morizono, Lili Wang, 2020, Science Advances.

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

H. Morizono, Lili Wang, James M. Wilson, 2010, Molecular therapy : the journal of the American Society of Gene Therapy.

Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds.

H. Morizono, G. Hoganson, E. Aronovich, 2000, Genomics.

Effect of arginine on oligomerization and stability of N-acetylglutamate synthase

H. Morizono, M. Tuchman, L. Caldovic, 2016, Scientific Reports.

The biochemical and molecular spectrum of ornithine transcarbamylase deficiency

H. Morizono, N. Allewell, M. Tuchman, 1998, Journal of Inherited Metabolic Disease.

Mutations and polymorphisms in the human ornithine transcarbamylase gene

H. Morizono, M. Tuchman, Naser Jaleel, 2002, Human mutation.

Genetic and Clinical Heterogeneity in eIF2B-Related Disorder

H. Morizono, A. Vanderver, E. Hoffman, 2008, Journal of child neurology.

Acetylornithine Transcarbamylase: a Novel Enzyme in Arginine Biosynthesis

Norma M. Allewell, Hiroki Morizono, D. Shi, 2006, Journal of bacteriology.

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

D. Shi, H. Morizono, N. Allewell, 2001, Acta crystallographica. Section D, Biological crystallography.

Crystal Structure of N-Acetylornithine Transcarbamylase from Xanthomonas campestris

Hiroki Morizono, D. Shi, H. Morizono, 2005, Journal of Biological Chemistry.

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

H. Morizono, M. Tuchman, M. Colombini, 2005, Molecular genetics and metabolism.

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

H. Morizono, N. Allewell, M. Tuchman, 1997, The Biochemical journal.

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

Alexander I. Son, Anna C. Salzberg, H. Morizono, 2017, Alcohol.

Crystal structure of a transcarbamylase-like protein from the anaerobic bacterium Bacteroides fragilis at 2.0 A resolution.

Hiroki Morizono, D. Shi, H. Morizono, 2002, Journal of molecular biology.

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

H. Morizono, Lili Wang, James M. Wilson, 2017, Molecular genetics and metabolism.

Identification of ‘private’ mutations in patients with ornithine transcarbamylase deficiency

M. Tuchman, H. Morizono, N. Allewell, 1997, Journal of Inherited Metabolic Disease.

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

H. Morizono, N. Allewell, M. Tuchman, 1997, Human molecular genetics.

Human ornithine transcarbamylase: crystallographic insights into substrate recognition and conformational changes.

D. Shi, H. Morizono, N. Allewell, 2001, The Biochemical journal.

The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.

H. Morizono, N. Allewell, M. Tuchman, 1995, Journal of medical genetics.

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

Hiroki Morizono, Lisa M. Guay-Woodford, H. Morizono, 2017, Front. Pediatr..

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

D. Shi, H. Morizono, N. Allewell, 2009, Journal of Biological Chemistry.

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

D. Shi, H. Morizono, M. Tuchman, 2006, Molecular genetics and metabolism.

1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine. Catalytic mechanism and correlation with inherited deficiency.

D. Shi, H. Morizono, N. Allewell, 1998, The Journal of biological chemistry.

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

H. Morizono, M. Tuchman, N. Braverman, 2018, Human mutation.

The functional impact of 1,570 individual amino acid substitutions in human OTC.

H. Morizono, A. Dudley, Russell S. Lo, 2023, American journal of human genetics.

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

D. Shi, H. Morizono, N. Allewell, 2000, Proteins.

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

H. Morizono, Lili Wang, James M. Wilson, 2010, Molecular therapy : the journal of the American Society of Gene Therapy.

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

Alexander I. Son, Anna C. Salzberg, H. Morizono, 2017, Alcohol.