Byung-Ok Choi Selected Research

Ribose-Phosphate Pyrophosphokinase (Phosphoribosyl Pyrophosphate Synthetase)

10/2013	Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.
9/2007	Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).

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Byung-Ok Choi Research Topics

Disease

17	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2022 - 01/2008
10	Peripheral Nervous System Diseases (PNS Diseases) 01/2022 - 09/2007
5	Demyelinating Diseases (Demyelinating Disease) 01/2022 - 11/2016
3	Neurodegenerative Diseases (Neurodegenerative Disease) 04/2022 - 11/2016
3	Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease) 01/2019 - 06/2014
3	Type 2F Charcot-Marie-Tooth disease 01/2016 - 06/2008
3	Mitochondrial Diseases (Mitochondrial Disease) 10/2015 - 06/2008
2	Type 2E Charcot-Marie-Tooth disease 01/2022 - 01/2008
2	Type 2D Charcot-Marie-Tooth disease 01/2022 - 12/2012
2	Type 1F Charcot-Marie-Tooth disease 01/2022 - 01/2008
2	Teratoma (Teratoid Tumor) 01/2018 - 05/2016
2	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2017 - 05/2014
2	Alzheimer Disease (Alzheimer's Disease) 01/2016 - 11/2012
2	Muscular Diseases (Myopathy) 01/2016 - 08/2014
2	MELAS Syndrome (Syndrome, MELAS) 06/2010 - 06/2008
1	Neuromuscular Junction Diseases 04/2022
1	Hypoxia (Hypoxemia) 01/2020
1	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 01/2019
1	Neurilemmoma (Schwannoma) 01/2019
1	Type 4B1 Charcot-Marie-Tooth disease 01/2019
1	1 X-linked Charcot-Marie-Tooth disease 01/2017
1	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 01/2017
1	Globoid Cell Leukodystrophy (Krabbe Disease) 11/2016
1	Wounds and Injuries (Trauma) 11/2016
1	Hereditary Motor And Sensory Neuropathy VI 03/2016
1	Distal Myopathies (Distal Muscular Dystrophy) 02/2016
1	Cognitive Dysfunction 01/2016
1	Amyloid Plaque 01/2016
1	Navajo neurohepatopathy 10/2015
1	Spinal muscular atrophy with respiratory distress 1 11/2014
1	Dementia (Dementias) 05/2014
1	Frontotemporal Dementia (Semantic Dementia) 05/2014
1	Deafness (Deaf Mutism) 04/2014
1	Ataxia (Dyssynergia) 04/2014
1	Myoclonus (Nocturnal Myoclonus) 04/2014
1	Foot Ulcer 02/2014
1	Hereditary Sensory and Autonomic Neuropathies (HSAN) 02/2014
1	Hypoglycemia (Reactive Hypoglycemia) 12/2013
1	Cardiomyopathies (Cardiomyopathy) 12/2013
1	Myoglobinuria 12/2013

Drug/Important Bio-Agent (IBA)

10	Proteins (Proteins, Gene)FDA Link 01/2022 - 12/2013
5	EnzymesIBA 01/2019 - 01/2006
4	Small Heat-Shock ProteinsIBA 01/2022 - 06/2008
4	Mitochondrial DNA (mtDNA)IBA 08/2014 - 06/2008
3	Myelin P0 Protein (Myelin Protein Zero)IBA 11/2021 - 07/2019
3	Pharmaceutical PreparationsIBA 11/2020 - 01/2016
3	Codon (Codons)IBA 05/2014 - 11/2012
3	Amino Acids FDA Link 02/2014 - 09/2007
2	Histone Deacetylase 6IBA 04/2022 - 11/2020
2	Glycine-tRNA LigaseIBA 01/2022 - 12/2012
2	Neural Cell Adhesion Molecules (Neural Cell Adhesion Molecule)IBA 11/2021 - 01/2019
2	periaxinIBA 01/2019 - 01/2015
2	Therapeutic UsesIBA 01/2016 - 01/2016
2	Ribose-Phosphate Pyrophosphokinase (Phosphoribosyl Pyrophosphate Synthetase)IBA 10/2013 - 09/2007
1	CKD-504IBA 04/2022
1	Transcription Factors (Transcription Factor)IBA 01/2022
1	CytokinesIBA 01/2022
1	neurofilament protein LIBA 01/2022
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 01/2022
1	Biomarkers (Surrogate Marker)IBA 01/2022
1	FarnesolIBA 11/2021
1	Protons (Proton)IBA 11/2021
1	Aurora Kinase AIBA 01/2020
1	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 01/2020
1	TubulinIBA 01/2020
1	CXC ChemokinesIBA 11/2019
1	LigandsIBA 11/2019
1	Myelin ProteinsIBA 04/2019
1	Nerve Growth Factor Receptor (Nerve Growth Factor Receptor, Low Affinity)IBA 01/2019
1	myotubularinIBA 01/2019
1	ImmunosorbentsIBA 01/2019
1	Glial Cell Line-Derived Neurotrophic Factor (GDNF)IBA 01/2018
1	Nerve Growth Factor (NGF)IBA 01/2018
1	Small Interfering RNA (siRNA)IBA 04/2017
1	Neurofilament ProteinsIBA 01/2017
1	ConnexinsIBA 01/2017
1	Nonsense Codon (Nonsense Mutation)IBA 01/2017
1	3' Untranslated Regions (3' UTR)IBA 01/2017
1	GalactosylceramidaseIBA 11/2016
1	Psychosine (Galactosylsphingosine)IBA 11/2016
1	Pyruvate Dehydrogenase Acetyl-Transferring KinaseIBA 03/2016
1	IsoenzymesIBA 03/2016
1	Creatine Kinase (Creatine Phosphokinase)IBA 02/2016
1	Messenger RNA (mRNA)IBA 01/2016
1	Heme Oxygenase-1IBA 01/2016
1	Amyloid (Amyloid Fibrils)IBA 01/2016
1	Amyloid beta-PeptidesIBA 01/2016
1	DNA (Deoxyribonucleic Acid)IBA 10/2015
1	Leucine (L-Leucine)FDA Link 05/2014
1	Valine (L-Valine)FDA Link 05/2014
1	ProgranulinsIBA 05/2014
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 05/2014
1	Serine C-PalmitoyltransferaseIBA 02/2014
1	Enoyl-CoA HydrataseIBA 12/2013
1	Coenzyme A (CoA)IBA 12/2013

Therapy/Procedure

2	Transplantation 11/2016 - 05/2016
2	Therapeutics 01/2016 - 09/2007
1	Cell Transplantation 01/2019
1	Precision Medicine 06/2014
1	Surgical Amputation (Amputations) 02/2014