Frédéric M Vaz Selected Research

Barth Syndrome

4/2022	Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.
1/2022	An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio.
1/2022	Barth syndrome and the many fascinating aspects of cardiolipin.
1/2021	Cardiolipin Remodeling Defects Impair Mitochondrial Architecture and Function in a Murine Model of Barth Syndrome Cardiomyopathy.
1/2021	Diverse mitochondrial abnormalities in a new cellular model of TAFFAZZIN deficiency are remediated by cardiolipin-interacting small molecules.
1/2020	Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
1/2017	The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome.
10/2016	New targets for monitoring and therapy in Barth syndrome.
1/2015	Mouse Tafazzin Is Required for Male Germ Cell Meiosis and Spermatogenesis.
2/2014	Deletion of the cardiolipin-specific phospholipase Cld1 rescues growth and life span defects in the tafazzin mutant: implications for Barth syndrome.

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Frédéric M Vaz Research Topics

Disease

16	Barth Syndrome 04/2022 - 06/2005
6	Cardiomyopathies (Cardiomyopathy) 04/2022 - 04/2005
5	Peroxisomal Disorders (Peroxisomal Disorder) 01/2020 - 01/2017
5	Zellweger Syndrome (Zellweger's Syndrome) 01/2019 - 01/2016
4	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 01/2021 - 01/2016
4	Fabry Disease (Fabry's Disease) 01/2018 - 01/2017
4	Liver Diseases (Liver Disease) 01/2018 - 11/2016
4	Muscular Diseases (Myopathy) 09/2013 - 10/2008
3	Mitochondrial Diseases (Mitochondrial Disease) 10/2022 - 01/2021
3	Nervous System Diseases (Neurological Disorders) 12/2021 - 01/2016
3	Inflammation (Inflammations) 11/2021 - 03/2016
3	Insulin Resistance 01/2021 - 01/2016
3	Cerebrotendinous Xanthomatosis 10/2020 - 01/2016
3	Fibrosis (Cirrhosis) 01/2020 - 01/2017
3	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2017 - 01/2012
2	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2021 - 01/2016
2	Obesity 10/2020 - 09/2017
2	Hypoglycemia (Reactive Hypoglycemia) 09/2020 - 01/2007
2	Liver Cirrhosis (Hepatic Cirrhosis) 01/2020 - 01/2019
2	Disease Progression 01/2020 - 01/2017
2	Body Weight (Weight, Body) 01/2019 - 09/2017
2	Cataract (Cataracts) 01/2018 - 02/2015
2	Neutropenia 02/2015 - 09/2013
1	Mitochondrial encephalopathy 10/2022
1	Cataract and cardiomyopathy 04/2022
1	COVID-19 01/2022
1	Asthma (Bronchial Asthma) 11/2021
1	Phenylketonurias (Phenylketonuria) 03/2021
1	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 01/2021
1	Mucopolysaccharidosis III (Sanfilippo Syndrome) 01/2021
1	Mucopolysaccharidoses 01/2021
1	Rheumatoid Arthritis 12/2020
1	Hyperoxaluria (Oxaluria) 12/2020
1	Primary Hyperoxaluria (Oxaluria, Primary) 12/2020
1	Sjogren-Larsson Syndrome 11/2020
1	Birth Weight (Birth Weights) 11/2020
1	Non-alcoholic Fatty Liver Disease 10/2020
1	Type 2 Diabetes Mellitus (MODY) 01/2020
1	Metabolic Diseases (Metabolic Disease) 01/2020
1	Niemann-Pick Diseases (Niemann Pick Disease) 01/2020
1	Steatorrhea 01/2018
1	Galactosemias (Galactosemia) 01/2018
1	3-Methylglutaconic Aciduria 01/2018

Drug/Important Bio-Agent (IBA)

14	Cardiolipins (Cardiolipin)IBA 10/2022 - 06/2005
11	Fatty Acids (Saturated Fatty Acids)IBA 11/2021 - 04/2005
9	Carnitine (L-Carnitine)FDA LinkGeneric 11/2020 - 04/2005
8	EnzymesIBA 01/2018 - 01/2007
7	LipidsIBA 12/2021 - 01/2012
7	Biomarkers (Surrogate Marker)IBA 01/2021 - 01/2016
7	Bile Acids and Salts (Bile Acids)IBA 01/2019 - 01/2016
6	Phospholipids (Phosphatides)FDA LinkGeneric 04/2022 - 06/2005
3	monolysocardiolipinIBA 01/2022 - 04/2009
3	Ether (Diethyl Ether)IBA 12/2021 - 11/2020
3	Proteins (Proteins, Gene)FDA Link 01/2021 - 01/2015
3	Lysophosphatidylcholines (Lysophosphatidylcholine)IBA 01/2020 - 11/2017
2	Peroxisome Proliferator-Activated Receptors (PPAR)IBA 01/2021 - 01/2017
2	hexachlorocyclohexane x-factorIBA 01/2021 - 01/2020
2	Glucose (Dextrose)FDA LinkGeneric 09/2020 - 01/2016
2	3-methylglutaconic acidIBA 01/2020 - 02/2015
2	acylcarnitineIBA 01/2020 - 01/2016
2	Cholic AcidIBA 01/2019 - 11/2016
2	PhosphatidylglycerolsIBA 01/2018 - 06/2012
2	Chenodeoxycholic Acid (Chenix)FDA Link 01/2017 - 01/2016
2	Unsaturated Fatty Acids (Polyunsaturated Fatty Acids)IBA 03/2016 - 03/2016
1	cardiolipin synthetaseIBA 10/2022
1	ProteomeIBA 10/2022
1	AcidsIBA 01/2022
1	KynurenineIBA 01/2022
1	Tryptophan (L-Tryptophan)FDA Link 01/2022
1	Quinolinic AcidIBA 01/2022
1	Aryl Hydrocarbon Receptors (Aryl Hydrocarbon Receptor)IBA 01/2022
1	Indoleamine-Pyrrole 2,3,-Dioxygenase (Indoleamine 2,3 Dioxygenase)IBA 01/2022
1	bis(monoacylglyceryl)phosphateIBA 11/2021
1	RNA (Ribonucleic Acid)IBA 11/2021
1	Phenylalanine (L-Phenylalanine)FDA Link 03/2021
1	3-Hydroxybutyric Acid (beta-Hydroxybutyric Acid)IBA 01/2021
1	KetonesIBA 01/2021
1	Peptide Hydrolases (Proteases)FDA Link 01/2021
1	AcyltransferasesIBA 01/2021
1	GenisteinIBA 01/2021
1	PresenilinsIBA 01/2021
1	Methotrexate (Mexate)FDA LinkGeneric 12/2020
1	OxalatesIBA 12/2020
1	long-chain-aldehyde dehydrogenaseIBA 11/2020
1	Protons (Proton)IBA 10/2020
1	Cholestanetriol 26-Monooxygenase (Cholestanetriol 26 Monooxygenase)IBA 10/2020
1	Ketone BodiesIBA 09/2020
1	SphingomyelinsIBA 01/2020
1	LDL CholesterolIBA 01/2020
1	sphingosine phosphorylcholineIBA 01/2020
1	SphingolipidsIBA 01/2020
1	Amino Acids FDA Link 01/2020
1	Glucagon-Like Peptide 1 (GLP 1)IBA 01/2019
1	VitaminsIBA 01/2019
1	UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)IBA 01/2018
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2018

Therapy/Procedure

7	Therapeutics 01/2021 - 01/2012
4	Enzyme Replacement Therapy 01/2020 - 01/2017
1	Bronchial Thermoplasty 11/2021
1	Transplantation 12/2020