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Makiko Yasuda Selected Research

Acute Intermittent Porphyria (Porphyria, Acute)

1/2020Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria.
11/2019Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria.
11/2019International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
11/2019Characterization of the hepatic transcriptome following phenobarbital induction in mice with AIP.
11/2019Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
11/2019Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
1/2019Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.
1/2019Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.
12/2016Acute Intermittent Porphyria in children: A case report and review of the literature.
11/2016Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.
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Makiko Yasuda Research Topics

Disease

16Acute Intermittent Porphyria (Porphyria, Acute)
01/2020 - 09/2007
8Fabry Disease (Fabry's Disease)
11/2021 - 05/2002
6Hepatic Porphyrias (Hepatic Porphyria)
11/2019 - 01/2010
4Erythropoietic Porphyria (Congenital Erythropoietic Porphyria)
11/2019 - 04/2006
4Porphyrias (Porphyria)
11/2019 - 11/2019
3Erythropoietic Protoporphyria
11/2019 - 04/2013
3Variegate Porphyria (Protoporphyrinogen Oxidase Deficiency)
11/2019 - 11/2019
3Hereditary Coproporphyria (Coproporphyrinogen Oxidase Deficiency)
11/2019 - 11/2019
3Porphyria Cutanea Tarda
11/2019 - 11/2019
2Cerebrovascular Disorders (Cerebrovascular Occlusion)
11/2021 - 09/2020
2Lysosomal Storage Diseases (Lysosomal Storage Disease)
01/2018 - 05/2002
1Infections
11/2019
1Hepatoerythropoietic Porphyria
11/2019
1Hemochromatosis (Bronze Diabetes)
11/2019
1Ataxia (Dyssynergia)
01/2019
1Stroke (Strokes)
01/2018
1Hyperplasia
06/2015
1Liver Diseases (Liver Disease)
04/2013
1Reticulocytosis
04/2006
1Hemolytic Anemia
04/2006
1Anemia
04/2006

Drug/Important Bio-Agent (IBA)

13Heme (Haem)IBA
01/2020 - 04/2006
10Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)IBA
01/2020 - 09/2007
7EnzymesIBA
11/2021 - 12/2003
6alpha-Galactosidase (Beano)IBA
09/2020 - 05/2002
4AcidsIBA
11/2019 - 08/2011
3Adenosine Diphosphate (ADP)IBA
11/2019 - 11/2019
3IronIBA
11/2019 - 06/2015
3GlycosphingolipidsIBA
03/2006 - 07/2003
2GalactosidasesIBA
11/2021 - 01/2018
2globotriaosylceramide (globotriosylceramide)IBA
11/2021 - 09/2020
2Ferrochelatase (Heme Synthetase)IBA
11/2019 - 04/2013
2Uroporphyrinogen Decarboxylase (Uroporphyrinogen III Decarboxylase)IBA
11/2019 - 11/2019
2Protoporphyrinogen Oxidase (Protox)IBA
11/2019 - 11/2019
2Uroporphyrinogen III Synthetase (Uroporphyrinogen-III Synthase)IBA
11/2019 - 04/2006
2Hydro-Lyases (Dehydratases)IBA
11/2019 - 11/2019
2Coproporphyrinogen Oxidase (Coproporphyrinogen III Oxidases)IBA
11/2019 - 11/2019
2PorphobilinogenIBA
01/2019 - 08/2011
2Hemin (Panhematin)FDA Link
06/2015 - 08/2011
1HydrolasesIBA
09/2020
1Aminolevulinic Acid (Levulan)FDA Link
11/2019
1Porphobilinogen Synthase (delta-Aminolevulinate Dehydratase)IBA
11/2019
1Lipid NanoparticlesIBA
11/2015
1Cell-Free Nucleic AcidsIBA
11/2015
1Small Interfering RNA (siRNA)IBA
11/2015
1hydroxymethylbilaneIBA
06/2015
1Acute Hepatic PorphyriaIBA
05/2014
1protoporphyrin IXIBA
04/2013
15-Aminolevulinate SynthetaseIBA
04/2013
1PorphyrinsIBA
04/2006

Therapy/Procedure

4Therapeutics
11/2021 - 08/2011
1Enzyme Replacement Therapy
09/2020
1Bone Marrow Transplantation (Transplantation, Bone Marrow)
11/2019
1RNAi Therapeutics
11/2015
1Liver Transplantation
06/2015