Eva Richard Selected Research

Propionic Acidemia

3/2024	Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.
1/2023	Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy.
1/2022	O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis.
1/2021	Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia.
12/2020	Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology.
1/2020	Cardiac Complications of Propionic and Other Inherited Organic Acidemias.
1/2020	Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy.
11/2018	Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.
1/2017	Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene.
1/2017	Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia.

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Eva Richard Research Topics

Disease

13	Propionic Acidemia 03/2024 - 09/2013
5	Rare Diseases (Rare Disease) 01/2023 - 11/2010
5	Homocystinuria 01/2018 - 11/2009
4	Methylmalonic acidemia 01/2013 - 07/2006
3	Metabolic Diseases (Metabolic Disease) 12/2020 - 07/2006
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2018 - 09/2013
2	Cardiomyopathies (Cardiomyopathy) 01/2023 - 01/2020
1	Phenylketonurias (Phenylketonuria) 04/2024
1	Acute Liver Failure (Fulminant Hepatic Failure) 01/2022
1	Hyperammonemia 01/2022
1	Liver Diseases (Liver Disease) 01/2022
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2020
1	Heart Diseases (Heart Disease) 01/2020
1	Acidosis 01/2020
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2017
1	Neoplasms (Cancer) 01/2017
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2017
1	Glioblastoma (Glioblastoma Multiforme) 01/2013
1	Inborn Genetic Diseases (Disease, Hereditary) 11/2009
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 02/2009
1	Severe combined immunodeficiency due to adenosine deaminase deficiency 02/2002

Drug/Important Bio-Agent (IBA)

8	EnzymesIBA 04/2024 - 09/2013
7	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 03/2024 - 09/2013
5	6-propylchromone-2-carboxylic acid (PCCA)IBA 03/2024 - 01/2017
5	AntioxidantsIBA 01/2018 - 11/2010
4	MicroRNAs (MicroRNA)IBA 01/2023 - 01/2017
4	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2017 - 11/2010
3	Proteins (Proteins, Gene)FDA Link 01/2022 - 02/2009
3	Branched-Chain Amino AcidsIBA 01/2020 - 01/2017
3	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2013 - 11/2009
2	CholesterolIBA 01/2020 - 01/2017
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2020 - 01/2017
2	Biotin (Vitamin H)FDA Link 09/2014 - 09/2013
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 04/2024
1	Antisense OligonucleotidesIBA 04/2024
1	Phenylalanine (L-Phenylalanine)FDA Link 04/2024
1	RNA (Ribonucleic Acid)IBA 01/2022
1	AmmoniaIBA 01/2022
1	Uridine Diphosphate (UDP)IBA 01/2022
1	Thioacetamide (Thioacetamid)IBA 01/2022
1	hexosaminidase CIBA 01/2022
1	IonsIBA 01/2020
1	Organic Chemicals (Chemicals, Organic)IBA 01/2020
1	PropionatesIBA 01/2020
1	AnionsIBA 01/2020
1	Biomarkers (Surrogate Marker)IBA 01/2017
1	Messenger RNA (mRNA)IBA 01/2016
1	Aspartate-Ammonia Ligase (Asparagine Synthetase)IBA 01/2016
1	Endoplasmic Reticulum Chaperone BiPIBA 01/2016
1	CalciumIBA 01/2016
1	HomocysteineIBA 01/2013
1	Small Interfering RNA (siRNA)IBA 01/2013
1	Methylmalonyl-CoA MutaseIBA 07/2006
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 07/2006

Therapy/Procedure

4	Therapeutics 01/2022 - 09/2013
1	Enzyme Replacement Therapy 02/2002