Makiko Yasuda

Makiko Yasuda

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Makiko Yasuda

Makiko Yasuda

Publications by authors named "Makiko Yasuda"

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

Acta Neuropathol Commun 2020 Mar 20;8(1):38. Epub 2020 Mar 20.

Department of Neurophysiology and Neuropharmacology, Center of Physiology and Pharmacology, Medical University of Vienna, Schwarzspanierstrasse, 17, A-1090, Vienna, Austria.

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http://dx.doi.org/10.1186/s40478-020-00910-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082933PMC
March 2020

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

Mol Genet Metab 2019 11 26;128(3):352-357. Epub 2018 Oct 26.

Icahn School of Medicine at Mount Sinai, Department of Genetics and Genomic Sciences, New York, NY 10029, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183048
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http://dx.doi.org/10.1016/j.ymgme.2018.10.008DOI Listing
November 2019

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

Mol Genet Metab 2019 11 31;128(3):358-362. Epub 2018 Aug 31.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183048
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http://dx.doi.org/10.1016/j.ymgme.2018.08.015DOI Listing
November 2019

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

Mol Genet Metab 2019 11 28;128(3):363-366. Epub 2018 Nov 28.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.11.013DOI Listing
November 2019

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

Mol Genet Metab 2019 11 30;128(3):320-331. Epub 2018 Nov 30.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542720PMC
November 2019

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

Mol Genet Metab 2019 11 7;128(3):376-381. Epub 2019 Jan 7.

Section on Gastroenterology & Hepatology, Wake Forest University/NC Baptist Medical Center, Winston-Salem, NC, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183058
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http://dx.doi.org/10.1016/j.ymgme.2019.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612470PMC
November 2019

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

Mol Genet Metab 2019 11 18;128(3):332-341. Epub 2019 Jan 18.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639143PMC
November 2019

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

Mol Genet Metab 2019 11 6;128(3):382-390. Epub 2019 Jan 6.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183048
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http://dx.doi.org/10.1016/j.ymgme.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612539PMC
November 2019

Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.

J Inherit Metab Dis 2019 01;42(1):186-194

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue Room 14-34, New York, NY 10029, USA.

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http://dx.doi.org/10.1002/jimd.12040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6162174PMC
January 2019

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

J Med Genet 2018 04 12;55(4):261-268. Epub 2018 Jan 12.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2017-105080
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http://dx.doi.org/10.1136/jmedgenet-2017-105080DOI Listing
April 2018

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

Proc Natl Acad Sci U S A 2018 04 9;115(17):E4071-E4080. Epub 2018 Apr 9.

Life Sciences Division, TCS Innovation Labs-Hyderabad, Tata Consultancy Services Limited, Hyderabad 500081, India;

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http://dx.doi.org/10.1073/pnas.1719267115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924904PMC
April 2018

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

Mol Genet Metab 2016 12 15;119(4):295-299. Epub 2016 Oct 15.

Department of Genetics and Genomic Science, Icahn School of Medicine at Mount Sinai, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.10.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154763PMC
December 2016

Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders.

Proc Natl Acad Sci U S A 2016 Apr 4;113(16):4434-9. Epub 2016 Apr 4.

Division of Hematology/Oncology, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA; 02115; The Broad Institute, Cambridge, MA 02142;

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http://dx.doi.org/10.1073/pnas.1521754113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4843446PMC
April 2016

A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen.

J Chromatogr B Analyt Technol Biomed Life Sci 2011 Aug 6;879(24):2389-96. Epub 2011 Jul 6.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/j.jchromb.2011.06.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3269068PMC
August 2011

AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function.

Mol Ther 2010 Jan 27;18(1):17-22. Epub 2009 Oct 27.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA.

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http://dx.doi.org/10.1038/mt.2009.250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2839207PMC
January 2010

Acute intermittent porphyria: vector optimization for gene therapy.

J Gene Med 2007 Sep;9(9):806-11

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA.

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http://dx.doi.org/10.1002/jgm.1074DOI Listing
September 2007

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.

Hum Mutat 2003 Dec;22(6):486-92

Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA.

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http://dx.doi.org/10.1002/humu.10275DOI Listing
December 2003

Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation.

Am J Hum Genet 2003 Jul 6;73(1):162-73. Epub 2003 Jun 6.

Department of Human Genetics, Mount Sinai School of Medicine, 1425 Madison Avenue, New York, NY 10029, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180577PMC
http://dx.doi.org/10.1086/376608DOI Listing
July 2003

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.

Mol Genet Metab 2002 May;76(1):23-30

Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/s1096-7192(02)00012-4DOI Listing
May 2002