Vamsi K Mootha Selected Research

Leigh Disease (Leigh's Disease)

1/2021	Hypoxia ameliorates brain hyperoxia and NAD+ deficiency in a murine model of Leigh syndrome.
10/2019	Leigh Syndrome Mouse Model Can Be Rescued by Interventions that Normalize Brain Hyperoxia, but Not HIF Activation.
1/2019	A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
8/2017	Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
1/2017	Hypoxia treatment reverses neurodegenerative disease in a mouse model of Leigh syndrome.
4/2016	Hypoxia as a therapy for mitochondrial disease.
9/2011	Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.

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Vamsi K Mootha Research Topics

Disease

19	Mitochondrial Diseases (Mitochondrial Disease) 01/2021 - 05/2006
7	Leigh Disease (Leigh's Disease) 01/2021 - 09/2011
5	Neoplasms (Cancer) 12/2021 - 05/2012
5	Hypoxia (Hypoxemia) 01/2021 - 04/2016
4	Insulin Resistance 04/2015 - 04/2004
4	Type 2 Diabetes Mellitus (MODY) 04/2015 - 04/2004
3	Mitochondrial encephalopathy 11/2017 - 12/2010
3	Inflammation (Inflammations) 10/2017 - 09/2015
3	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2017 - 11/2012
3	Muscular Diseases (Myopathy) 09/2011 - 03/2008
2	MELAS Syndrome (Syndrome, MELAS) 01/2021 - 11/2017
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 05/2006
2	Anemia 10/2019 - 08/2009
2	Obesity 01/2019 - 04/2015
2	Fatigue 01/2019 - 04/2016
2	Infections 01/2019 - 10/2017
2	Fatty Liver 01/2018 - 04/2015
2	Disease Progression 04/2016 - 01/2010
2	Reperfusion Injury 09/2015 - 03/2010
2	Rhabdomyolysis 11/2012 - 03/2010
1	Starvation 12/2021
1	Hyperoxia 01/2021
1	Barth Syndrome 01/2020
1	B-Cell Chronic Lymphocytic Leukemia (Chronic Lymphocytic Leukemia) 10/2019
1	Lymphoma (Lymphomas) 10/2019
1	Cataract (Cataracts) 01/2019
1	Friedreich Ataxia (Friedreich's Ataxia) 01/2019
1	Muscle Weakness 01/2019
1	Learning Disabilities (Learning Disability) 01/2019
1	renal Oncocytoma 01/2018
1	Carcinoma (Carcinomatosis) 01/2018
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2018
1	Thyroid Neoplasms (Thyroid Cancer) 01/2018
1	Lactic Acidosis 11/2017
1	Stroke (Strokes) 11/2017
1	Aneurysm (Aneurysms) 10/2017
1	Aortic Rupture 10/2017
1	Heart Diseases (Heart Disease) 10/2017
1	Rupture 10/2017
1	Hypertension (High Blood Pressure) 10/2017
1	Glycogen Storage Disease Type V (McArdle's Disease) 01/2017
1	Brain Diseases (Brain Disorder) 01/2017
1	Body Weight (Weight, Body) 04/2016

Drug/Important Bio-Agent (IBA)

14	Mitochondrial DNA (mtDNA)IBA 01/2021 - 05/2006
6	Proteins (Proteins, Gene)FDA Link 01/2021 - 05/2006
5	Biomarkers (Surrogate Marker)IBA 01/2017 - 01/2010
5	Glucose (Dextrose)FDA LinkGeneric 04/2015 - 07/2005
4	IronIBA 12/2021 - 08/2009
4	ProteomeIBA 01/2021 - 01/2010
4	NAD (NADH)IBA 01/2021 - 01/2018
4	Oxygen (Dioxygen)IBA 01/2020 - 04/2016
3	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 05/2006
3	RNA (Ribonucleic Acid)IBA 01/2021 - 01/2014
3	EnzymesIBA 01/2020 - 01/2014
3	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2020 - 03/2008
3	Pharmaceutical PreparationsIBA 10/2019 - 01/2011
3	CarbonIBA 01/2019 - 01/2014
3	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2019 - 01/2015
3	Meclizine (Meclozine)FDA LinkGeneric 09/2015 - 03/2010
3	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 09/2011 - 03/2008
2	CalciumIBA 01/2020 - 01/2019
2	Lactic Acid (Lactate)FDA LinkGeneric 01/2019 - 01/2017
2	Flavin-Adenine Dinucleotide (FAD)IBA 07/2015 - 12/2010
2	Oxidoreductases (Dehydrogenase)IBA 07/2015 - 12/2010
2	Molecular Chaperones (Chaperone, Molecular)IBA 07/2015 - 12/2010
2	Messenger RNA (mRNA)IBA 04/2015 - 01/2014
2	Insulin (Novolin)FDA Link 01/2015 - 08/2010
2	Propranolol (Inderal)FDA LinkGeneric 03/2010 - 03/2008
2	ERRalpha Estrogen-Related ReceptorIBA 03/2008 - 04/2004
1	ferric citrate iron reductase (ferric-chelate reductase)IBA 12/2021
1	Transferrin (beta 2 Transferrin)IBA 12/2021
1	Niacin (Nicotinic Acid)FDA LinkGeneric 01/2021
1	Peptides (Polypeptides)IBA 01/2021
1	Phospholipids (Phosphatides)FDA LinkGeneric 01/2020
1	Ion Channels (Ion Channel)IBA 01/2020
1	venetoclaxIBA 10/2019
1	Carbon MonoxideIBA 10/2019
1	Creatine Kinase (Creatine Phosphokinase)IBA 01/2019
1	SulfurIBA 01/2019
1	FrataxinIBA 01/2019
1	Viral ProteinsIBA 01/2019
1	Cyclin D1IBA 01/2018
1	Glutathione (Reduced Glutathione)IBA 01/2018
1	ManganeseIBA 01/2018
1	CitrullineIBA 11/2017
1	MethyltransferasesIBA 11/2017
1	Norepinephrine (Noradrenaline)FDA LinkGeneric 10/2017
1	Angiotensin IIIBA 10/2017
1	Protein Subunits (Protein Subunit)IBA 08/2017
1	NucleotidesIBA 01/2017
1	GlycogenIBA 01/2017
1	AmmoniaIBA 01/2017
1	UridineIBA 01/2017
1	Urea (Carbamide)FDA LinkGeneric 01/2017
1	HypoxanthineIBA 01/2017
1	Inosine FDA Link 01/2017
1	XanthineIBA 01/2017
1	Triglycerides (Triacylglycerol)IBA 01/2017
1	purineIBA 01/2017

Therapy/Procedure

5	Therapeutics 01/2021 - 04/2016