Nobuyuki Shimozawa Selected Research

Zellweger Syndrome (Zellweger's Syndrome)

1/2021	Zebrafish model of human Zellweger syndrome reveals organ-specific accumulation of distinct fatty acid species and widespread gene expression changes.
4/2017	Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype.
1/2017	Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry.
12/2015	First Japanese case of Zellweger syndrome with a mutation in PEX14.
12/2013	Molecular species of phospholipids with very long chain fatty acids in skin fibroblasts of Zellweger syndrome.
10/2013	Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene.
4/2012	Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata.
6/2004	Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.
10/2003	Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders.

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Nobuyuki Shimozawa Research Topics

Disease

24	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 02/2022 - 10/2003
9	Zellweger Syndrome (Zellweger's Syndrome) 01/2021 - 10/2003
8	Peroxisomal Disorders (Peroxisomal Disorder) 01/2022 - 10/2003
7	Peroxisome biogenesis disorders 02/2019 - 03/2002
5	Inborn Genetic Diseases (Disease, Hereditary) 08/2021 - 04/2005
4	Demyelinating Diseases (Demyelinating Disease) 01/2022 - 01/2002
2	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2019 - 02/2011
2	Fever (Fevers) 02/2017 - 08/2005
1	Muscle Hypotonia (Hypotonia) 03/2021
1	Seizures (Absence Seizure) 03/2021
1	Failure to Thrive 03/2021
1	Metabolic Diseases (Metabolic Disease) 01/2021
1	Disease Progression 01/2021
1	Addison Disease (Addison's Disease) 06/2020
1	Neurologic Manifestations (Neurological Manifestations) 04/2020
1	Vomiting 02/2017
1	Adrenal Insufficiency (Adrenal Gland Hypofunction) 02/2017
1	Epilepsy (Aura) 11/2016
1	Infantile Refsum Disease (Infantile Phytanic Acid Storage Disease) 01/2016
1	Hypermethioninemia 12/2015
1	Homocystinuria 12/2015
1	Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 01/2014
1	Basal Ganglia Diseases (Basal Ganglia Disease) 01/2014
1	Ketosis 01/2014
1	Male Infertility (Male Sterility) 01/2013
1	Liver Diseases (Liver Disease) 01/2013
1	Intellectual Disability (Idiocy) 04/2012
1	Rhizomelic Chondrodysplasia Punctata 04/2012
1	Obesity 11/2011
1	Juvenile Amyotrophic Lateral Sclerosis 2 10/2008
1	Protein Deficiency 09/2008
1	Alexander Disease (Alexander's Disease) 03/2003
1	Infantile Spasms (West Syndrome) 04/2002
1	Deafness (Deaf Mutism) 04/2002
1	Hepatomegaly 04/2002

Drug/Important Bio-Agent (IBA)

21	Fatty Acids (Saturated Fatty Acids)IBA 01/2022 - 04/2002
8	EnzymesIBA 03/2021 - 10/2003
7	Proteins (Proteins, Gene)FDA Link 01/2021 - 06/2004
5	LipidsIBA 01/2018 - 09/2008
4	Adenosine Triphosphate (ATP)IBA 01/2022 - 11/2011
4	Member 1 Subfamily D ATP Binding Cassette TransporterIBA 08/2021 - 06/2007
4	Phytanic AcidIBA 01/2016 - 10/2003
3	Phospholipids (Phosphatides)FDA LinkGeneric 01/2018 - 04/2012
3	PlasmalogensIBA 01/2016 - 10/2003
2	Membrane Proteins (Integral Membrane Proteins)IBA 08/2021 - 10/2013
2	AcidsIBA 12/2015 - 08/2008
2	Pharmaceutical PreparationsIBA 01/2014 - 05/2011
1	GlycosphingolipidsIBA 08/2021
1	peroxisomal acyl-CoA oxidaseIBA 03/2021
1	GlucocorticoidsIBA 06/2020
1	RNA Polymerase IIIIBA 04/2020
1	Acyl Coenzyme A (Acyl CoA)IBA 01/2020
1	Lorenzo's oilIBA 01/2018
1	Factor X (Stuart Factor)IBA 04/2017
1	Adrenocorticotropic Hormone (ACTH)FDA Link 02/2017
1	Levetiracetam (Keppra)FDA LinkGeneric 11/2016
1	lignoceric acid (tetracosanoic acid)IBA 01/2016
1	pyreneIBA 01/2016
1	Betaine (C.B.B.)FDA Link 12/2015
1	CystathionineIBA 12/2015
1	HomocysteineIBA 12/2015
1	Pyridoxine (Pyridoxin)FDA LinkGeneric 12/2015
1	SulfurIBA 12/2015
1	3-hydroxyisobutyryl-CoA hydrolaseIBA 01/2014
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2014
1	Pyruvic Acid (Pyruvate)IBA 01/2014
1	PhytolIBA 01/2013
1	GPI-Linked ProteinsIBA 04/2012
1	alkylglycerone-phosphate synthaseIBA 04/2012
1	Sterol Regulatory Element Binding ProteinsIBA 11/2011
1	ATP-Binding Cassette Transporters (ABC Transporters)IBA 11/2011
1	Peroxisome Proliferator-Activated Receptors (PPAR)IBA 11/2011
1	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 10/2008
1	pristanic acidIBA 08/2008
1	Proteasome InhibitorsIBA 06/2007
1	Threonine (L-Threonine)FDA Link 08/2005
1	FlavonoidsIBA 01/2005
1	baicalein 5,6,7-trimethyl etherIBA 01/2005
1	baicaleinIBA 01/2005
1	Docosahexaenoic AcidsIBA 10/2003
1	PeroxinsIBA 08/2003
1	Glial Fibrillary Acidic ProteinIBA 03/2003
1	Nonsense Codon (Nonsense Mutation)IBA 03/2002
1	Acyl-CoA OxidaseIBA 01/2002

Therapy/Procedure

4	Therapeutics 06/2020 - 01/2005
2	Stem Cell Transplantation 02/2022 - 03/2019
2	Hematopoietic Stem Cell Transplantation 01/2022 - 01/2019
1	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/2021
1	Transplantation 11/2016
1	Liver Transplantation 01/2016