Belén Pérez Selected Research

Propionic Acidemia

3/2022	Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
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	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	Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia.
1/2017	Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia.
9/2014	Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts.
9/2013	Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.

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Belén Pérez Research Topics

Disease

16	Propionic Acidemia 03/2022 - 11/2002
11	Alzheimer Disease (Alzheimer's Disease) 06/2022 - 03/2014
10	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 10/2022 - 02/2009
9	Phenylketonurias (Phenylketonuria) 10/2022 - 11/2004
7	Methylmalonic acidemia 03/2022 - 04/2005
7	Homocystinuria 03/2022 - 11/2009
7	Rare Diseases (Rare Disease) 01/2022 - 11/2010
6	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2022 - 01/2017
4	Metabolic Diseases (Metabolic Disease) 12/2020 - 07/2006
3	Neuroinflammatory Diseases 05/2022 - 01/2017
3	Brain Diseases (Brain Disorder) 05/2022 - 09/2013
3	Stroke (Strokes) 12/2020 - 08/2015
3	Cerebellar Diseases (Cerebellar Syndrome) 01/2019 - 10/2015
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2018 - 09/2013
3	Atrophy 01/2017 - 10/2015
3	Hepatocellular Carcinoma (Hepatoma) 09/2014 - 03/2006
2	Ornithine Carbamoyltransferase Deficiency Disease 03/2022 - 01/2015
2	Ischemic Stroke 12/2020 - 08/2015
2	Cognitive Dysfunction 01/2020 - 10/2017
2	Neoplasms (Cancer) 01/2020 - 01/2017
2	Cardiomyopathies (Cardiomyopathy) 01/2020 - 01/2015
2	Congenital Disorders of Glycosylation 01/2019 - 05/2013
2	Congenital disorder of glycosylation type II 01/2019 - 05/2013
2	Ataxia (Dyssynergia) 02/2018 - 10/2015
2	Inborn Genetic Diseases (Disease, Hereditary) 05/2013 - 11/2009
2	Seizures (Absence Seizure) 02/2013 - 10/2011
1	Citrullinemia 03/2022
1	VLCAD deficiency 03/2022
1	Medium chain acyl CoA dehydrogenase deficiency 03/2022
1	Cystinuria 03/2022
1	Maple Syrup Urine Disease 03/2022
1	Tyrosinemias (Tyrosinemia) 03/2022
1	Trifunctional Protein Deficiency With Myopathy And Neuropathy 03/2022
1	Hypermethioninemia 03/2022
1	Vascular Diseases (Vascular Disease) 01/2022
1	Basal Ganglia Diseases (Basal Ganglia Disease) 09/2021
1	Aneurysm (Aneurysms) 04/2021
1	Inflammation (Inflammations) 04/2021
1	Hypertension (High Blood Pressure) 12/2020
1	Brain Injuries (Brain Injury) 12/2020
1	Pancreatitis 10/2020
1	Uniparental Disomy 07/2020
1	Lysinuric Protein Intolerance 01/2020
1	Memory Disorders (Memory Loss) 01/2020

Drug/Important Bio-Agent (IBA)

12	EnzymesIBA 01/2022 - 11/2002
10	6-propylchromone-2-carboxylic acid (PCCA)IBA 01/2021 - 11/2002
9	Congenital disorder of glycosylation type 1AIBA 10/2022 - 10/2015
9	AntioxidantsIBA 10/2021 - 11/2010
9	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 01/2021 - 11/2002
8	phosphomannomutaseIBA 01/2022 - 08/2011
6	Proteins (Proteins, Gene)FDA Link 10/2021 - 02/2009
6	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2020 - 11/2004
5	Biotin (Vitamin H)FDA Link 09/2021 - 11/2002
4	ImidazolinesIBA 05/2022 - 01/2020
4	Branched-Chain Amino AcidsIBA 03/2022 - 01/2017
4	Pharmaceutical PreparationsIBA 01/2022 - 10/2015
4	LigandsIBA 10/2021 - 01/2019
4	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2020 - 11/2009
4	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2017 - 11/2010
4	sapropterin (tetrahydrobiopterin)FDA Link 05/2013 - 11/2004
3	Uric Acid (Urate)IBA 12/2020 - 04/2015
3	MicroRNAs (MicroRNA)IBA 01/2020 - 01/2017
3	Fatty Acids (Saturated Fatty Acids)IBA 01/2020 - 01/2015
3	RNA Splice SitesIBA 01/2015 - 02/2011
2	Neurotransmitter Agents (Neurotransmitter)IBA 10/2022 - 08/2011
2	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 03/2022 - 01/2015
2	6-chlorotacrineIBA 01/2022 - 03/2018
2	Epoxide HydrolasesIBA 01/2022 - 10/2020
2	AcetylcholinesteraseIBA 01/2022 - 03/2018
2	Biomarkers (Surrogate Marker)IBA 04/2021 - 01/2017
2	Amyloid (Amyloid Fibrils)IBA 03/2021 - 01/2017
2	CholesterolIBA 01/2020 - 01/2017
2	voltage-dependent calcium channel (P-Q type)IBA 01/2019 - 02/2018
2	Polysaccharides (Glycans)IBA 01/2019 - 05/2013
2	Cholinesterase Inhibitors (Anticholinesterases)IBA 03/2018 - 01/2017
2	Amino Acids FDA Link 01/2018 - 08/2009
2	HomocysteineIBA 01/2013 - 05/2006
2	Methylmalonyl-CoA MutaseIBA 03/2007 - 07/2006
1	6-pyruvoyltetrahydropterin synthase (PTPS)IBA 10/2022
1	Memantine (Namenda)FDA Link 06/2022
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 06/2022
1	Oxidopamine (6 Hydroxydopamine)IBA 05/2022
1	3-Hydroxy-3-Methylglutaryl-CoA Lyase DeficiencyIBA 03/2022
1	TransferasesIBA 03/2022
1	Systemic carnitine deficiencyIBA 03/2022
1	Acyl Coenzyme A (Acyl CoA)IBA 03/2022
1	Carnitine palmitoyl transferase 2 deficiencyIBA 03/2022
1	Carnitine palmitoyl transferase 1A deficiencyIBA 03/2022
1	Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA 03/2022
1	LyasesIBA 03/2022
1	Histones (Histone)IBA 01/2022
1	RNA (Ribonucleic Acid)IBA 01/2022
1	Superoxide DismutaseIBA 10/2021
1	Glutathione PeroxidaseIBA 10/2021
1	Thiamine (Aneurin)FDA Link 09/2021
1	ElementsIBA 04/2021
1	Calcium Channels (Calcium Channel)IBA 01/2021

Therapy/Procedure

7	Therapeutics 06/2022 - 06/2012
3	Oral Administration 01/2022 - 11/2004
1	Aftercare (After-Treatment) 05/2022