L R Desviat Selected Research

Enzymes

1/2022	Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning.
1/2020	Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic acidemia.
1/2016	In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder.
6/2015	Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.
5/2003	Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
1/2003	Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
12/2001	Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.

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L R Desviat Research Topics

Disease

10	Propionic Acidemia 01/2020 - 09/2001
5	Inborn Genetic Diseases (Disease, Hereditary) 01/2018 - 09/2000
4	Methylmalonic acidemia 01/2016 - 12/2007
3	Metabolic Diseases (Metabolic Disease) 01/2020 - 01/2003
3	Phenylketonurias (Phenylketonuria) 01/2018 - 01/2000
2	Methylmalonic aciduria cblB type 01/2022 - 01/2018
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2020
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2018
1	Maple Syrup Urine Disease 01/2016
1	Congenital Disorders of Glycosylation 01/2015
1	Rare Diseases (Rare Disease) 08/2014
1	Tyrosinemias (Tyrosinemia) 08/2014
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 12/2007
1	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2007

Drug/Important Bio-Agent (IBA)

7	EnzymesIBA 01/2022 - 12/2001
7	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 01/2020 - 12/2001
5	6-propylchromone-2-carboxylic acid (PCCA)IBA 09/2004 - 09/2001
4	Proteins (Proteins, Gene)FDA Link 01/2018 - 09/2000
3	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2018 - 01/2000
2	Adenosine Triphosphate (ATP)IBA 01/2022 - 06/2015
2	NucleotidesIBA 01/2018 - 01/2015
1	cob(I)alamin adenosyltransferaseIBA 01/2022
1	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2020
1	CalciumIBA 01/2020
1	Congenital disorder of glycosylation type 1AIBA 01/2018
1	Branched-Chain Amino AcidsIBA 01/2016
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 06/2015
1	SugarsIBA 01/2015
1	GlycosyltransferasesIBA 01/2015
1	Glycoside Hydrolases (Endoglycosidases)IBA 01/2015
1	fumarylacetoacetase (fumarylacetoacetate hydrolase)IBA 08/2014
1	succinylacetoneIBA 08/2014
1	fumarylacetoacetateIBA 08/2014
1	Tyrosine (L-Tyrosine)FDA Link 08/2014
1	AminoglycosidesIBA 11/2012
1	Nonsense Codon (Nonsense Mutation)IBA 11/2012
1	Methylmalonyl-CoA MutaseIBA 02/2008
1	cobamamide (adenosylcobalamin)IBA 02/2008
1	Free RadicalsIBA 12/2007
1	MorpholinosIBA 12/2007
1	Messenger RNA (mRNA)IBA 12/2007
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2003
1	Biotin (Vitamin H)FDA Link 01/2003

Therapy/Procedure

2	Therapeutics 12/2009 - 12/2007