John Christodoulou Selected Research

Lactic Acidosis

12/2013	Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
1/2013	Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
7/2010	Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

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John Christodoulou Research Topics

Disease

23	Rett Syndrome (Rett's Disorder) 11/2023 - 10/2003
15	Neurodevelopmental Disorders 01/2023 - 10/2003
14	Mitochondrial Diseases (Mitochondrial Disease) 01/2023 - 12/2011
14	Parkinson Disease (Parkinson's Disease) 11/2019 - 01/2005
8	Phenylketonurias (Phenylketonuria) 01/2023 - 12/2005
7	Seizures (Absence Seizure) 11/2023 - 01/2012
7	Amyloidosis 12/2019 - 09/2005
6	Nervous System Diseases (Neurological Disorders) 01/2022 - 04/2010
4	Scoliosis 11/2023 - 09/2006
4	Muscular Diseases (Myopathy) 11/2022 - 07/2010
4	Arts syndrome 03/2021 - 04/2010
4	Leigh Disease (Leigh's Disease) 01/2019 - 09/2011
4	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2019 - 10/2008
4	Hearing Loss (Hearing Impairment) 01/2013 - 04/2010
3	Acute Liver Failure (Fulminant Hepatic Failure) 01/2023 - 01/2019
3	CDKL5 deficiency disorder 01/2022 - 11/2016
3	Intellectual Disability (Idiocy) 01/2022 - 04/2010
3	Muscle Hypotonia (Hypotonia) 01/2021 - 04/2010
3	Malnutrition (Nutritional Deficiencies) 01/2019 - 04/2014
3	Deafness (Deaf Mutism) 04/2015 - 12/2011
3	Lactic Acidosis 12/2013 - 07/2010
2	Neoplasms (Cancer) 01/2022 - 09/2014
2	Brain Diseases (Brain Disorder) 01/2022 - 01/2019
2	Bone Marrow Failure Disorders 05/2021 - 10/2014
2	Liver Diseases (Liver Disease) 12/2020 - 10/2012
2	Cardiovascular Diseases (Cardiovascular Disease) 01/2019 - 03/2003
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2017 - 11/2013
2	Infantile Spasms (West Syndrome) 11/2016 - 02/2012
2	Nonketotic Hyperglycinemia 03/2016 - 04/2006
2	Renal Insufficiency (Renal Failure) 01/2016 - 04/2015
2	Myopathy with lactic acidosis and sideroblastic anemia 12/2013 - 07/2010
2	Amyloid Plaque 12/2009 - 09/2005
2	Coronary Artery Disease (Coronary Atherosclerosis) 03/2003 - 02/2003
1	Constipation 11/2023
1	Bruxism 11/2023
1	Fever (Fevers) 02/2023
1	Craniocerebral Trauma (Head Injury) 02/2023
1	Rare Diseases (Rare Disease) 01/2023
1	Chromosome Aberrations (Chromosome Abnormalities) 01/2023
1	Amenorrhea 11/2022
1	Infertility (Sterility) 11/2022

Drug/Important Bio-Agent (IBA)

26	Proteins (Proteins, Gene)FDA Link 01/2023 - 12/2005
11	Methyl-CpG-Binding Protein 2IBA 06/2022 - 10/2003
8	EnzymesIBA 02/2023 - 07/2009
8	SynucleinsIBA 03/2021 - 09/2010
7	Mitochondrial DNA (mtDNA)IBA 01/2021 - 09/2011
6	Muramidase (Lysozyme)IBA 11/2017 - 09/2005
6	alpha-SynucleinIBA 03/2010 - 01/2005
5	Intrinsically Disordered ProteinsIBA 01/2022 - 01/2005
5	Phenylalanine (L-Phenylalanine)FDA Link 04/2014 - 12/2005
4	RNA (Ribonucleic Acid)IBA 01/2023 - 11/2020
4	Cyclin-Dependent Kinases (cdk Proteins)IBA 01/2022 - 04/2010
4	S-Adenosylmethionine (Ademetionine)IBA 03/2021 - 04/2010
4	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 07/2010
4	Adenosine Triphosphate (ATP)IBA 10/2020 - 12/2009
4	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2020 - 11/2013
4	Amyloid (Amyloid Fibrils)IBA 11/2017 - 03/2010
3	NAD (NADH)IBA 02/2023 - 01/2019
3	Hydro-Lyases (Dehydratases)IBA 02/2023 - 01/2019
3	Amino Acids FDA Link 01/2020 - 05/2007
3	Fatty Acids (Saturated Fatty Acids)IBA 01/2020 - 12/2016
3	Riboflavin (Vitamin B2)FDA LinkGeneric 01/2019 - 01/2011
3	CalciumIBA 03/2006 - 02/2003
2	Biomarkers (Surrogate Marker)IBA 01/2023 - 01/2022
2	TransferasesIBA 01/2023 - 09/2014
2	Lysine AcetyltransferasesIBA 01/2023 - 10/2020
2	CyclinsIBA 01/2022 - 11/2016
2	UbiquitinIBA 01/2022 - 03/2021
2	Kainic Acid Receptors (Kainate Receptor)IBA 11/2021 - 01/2021
2	Telomerase (Telomerase Reverse Transcriptase)IBA 05/2021 - 10/2014
2	Lactic Acid (Lactate)FDA LinkGeneric 12/2019 - 01/2017
2	4,6-dinitro-o-cresol (DNOC)IBA 01/2019 - 01/2013
2	Dihydrotachysterol (AT 10)IBA 05/2016 - 09/2006
2	Crystallins (Crystallin)IBA 04/2016 - 03/2010
2	Glycine (Aminoacetic Acid)FDA LinkGeneric 03/2016 - 04/2006
2	nulibryIBA 11/2015 - 09/2014
2	Ribose-Phosphate Pyrophosphokinase (Phosphoribosyl Pyrophosphate Synthetase)IBA 09/2014 - 02/2012
2	sapropterin (tetrahydrobiopterin)FDA Link 01/2014 - 12/2005
2	Tyrosine-tRNA LigaseIBA 12/2013 - 07/2010
2	Nonsense Codon (Nonsense Mutation)IBA 11/2013 - 11/2005
2	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 08/2013 - 01/2013
2	Uric Acid (Urate)IBA 02/2012 - 04/2010
2	Purine NucleotidesIBA 12/2011 - 04/2010
1	Lysine (L-Lysine)FDA Link 01/2023
1	Cysteine (L-Cysteine)FDA Link 01/2023
1	Retroelements (Retrotransposon)IBA 01/2023
1	Follicle Stimulating Hormone (Follitropin)FDA Link 11/2022
1	Protein Isoforms (Isoforms)IBA 11/2022
1	Initiator Codon (Start Codon)IBA 11/2022
1	ElementsIBA 11/2022
1	Complementary DNA (cDNA)IBA 05/2022
1	Nuclear Pore Complex Proteins (Nucleoporins)IBA 01/2022
1	F-Box ProteinsIBA 01/2022
1	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2022
1	Cell-Penetrating PeptidesIBA 01/2022
1	fibroblast growth factor 21IBA 01/2022

Therapy/Procedure

14	Therapeutics 01/2022 - 10/2003
3	Gastrostomy 11/2023 - 12/2014
2	Bone Marrow Transplantation (Transplantation, Bone Marrow) 09/2014 - 08/2002
1	Diet Therapy (Therapy, Diet) 01/2023