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M

Makiko Yasuda

ica hn school of medicine at mount sinai

H指数:23

被引数:2,890

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Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management

LIVER INTERNATIONAL

IF5.2

2024-04-152

OAAI

ZFN-mediated in vivo gene editing in hepatocytes leads to supraphysiologic α-Gal A activity and effective substrate reduction in Fabry mice

ZFN介导的肝细胞体内基因编辑导致法布里小鼠体内超生理 α-gala活性和有效底物减少

MOLECULAR THERAPY

IF12

2021-11-0112

OAAI

Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria

ACTA NEUROPATHOLOGICA COMMUNICATIONS

IF5.7

2020-03-206

OAAI

Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-11-018

PREAI

Characterization of the hepatic transcriptome following phenobarbital induction in mice with AIP

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-11-018

OAAI

Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-11-017

OAAI

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

GENETICS IN MEDICINE

IF6.2

2019-11-0119

OAAI

Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-11-013

PREAI

Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-11-0112

OAAI

Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-11-0115

OAAI

Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-11-0160

OAAI

Liver-targeted AAV gene therapy vectors produced by a clinical scale manufacturing process result in high, continuous therapeutic levels of enzyme activity and effective substrate reduction in mouse model of Fabry disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-02-0113

PREAI

Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria

HUMAN MOLECULAR GENETICS

IF3.2

2019-01-0717

OAAI

Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2018-04-0931

OAAI

Liver-based expression of the human alpha-galactosidase A gene in a murine Fabry model results in continuous therapeutic levels of enzyme activity and effective substrate reduction

MOLECULAR GENETICS AND METABOLISM

IF3.5

2018-02-010

PREAI

ZFN-mediated in vivo genome editing results in therapeutic levels of α-galactosidase A and effective substrate reduction in Fabry knockout mice

MOLECULAR GENETICS AND METABOLISM

IF3.5

2018-02-010

PREAI

Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017

JOURNAL OF MEDICAL GENETICS

IF3.7

2018-01-12106

PREAI

Liver-based expression of the human alpha-galactosidase A gene (GLA) in a murine Fabry model results in continuous supra-physiological enzyme activity and effective substrate reduction

MOLECULAR GENETICS AND METABOLISM

IF3.5

2017-01-012

PREAI

Acute Intermittent Porphyria in children: A case report and review of the literature

MOLECULAR GENETICS AND METABOLISM

IF3.5

2016-12-0129

OAAI

Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

IF3.7

2016-09-05143

OAAI