Celia Pérez-Cerdá Selected Research

Propionic Acidemia

1/2021	Long-term follow-up with filter paper samples in patients with propionic acidemia.
1/2020	Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy.
1/2017	Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia.
1/2017	Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene.
9/2014	Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
9/2013	Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.
2/2011	Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.
9/2010	Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient.
4/2009	High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.
6/2005	Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.

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Celia Pérez-Cerdá Research Topics

Disease

12	Propionic Acidemia 01/2021 - 11/2002
7	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2019 - 02/2009
4	Rare Diseases (Rare Disease) 01/2017 - 08/2011
4	Inborn Genetic Diseases (Disease, Hereditary) 10/2016 - 04/2005
3	Cerebellar Diseases (Cerebellar Syndrome) 01/2019 - 10/2015
3	Congenital Disorders of Glycosylation 01/2019 - 01/2008
3	Atrophy 01/2017 - 10/2015
2	Congenital disorder of glycosylation type II 01/2019 - 05/2013
2	Ataxia (Dyssynergia) 02/2018 - 10/2015
2	Glycogen Storage Disease (Glycogenosis) 10/2016 - 05/2013
2	Liver Failure 02/2016 - 11/2014
2	Pyridoxine-dependent epilepsy 01/2014 - 02/2013
2	Metabolic Diseases (Metabolic Disease) 01/2014 - 01/2008
2	Seizures (Absence Seizure) 02/2013 - 10/2011
1	Cardiomyopathies (Cardiomyopathy) 01/2020
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2020
1	Asthenia 01/2019
1	Channelopathies 02/2018
1	Stroke (Strokes) 02/2018
1	Migraine with Aura (Familial Hemiplegic Migraine) 02/2018
1	isovaleric Acidemia 03/2017
1	Hypoglycemia (Reactive Hypoglycemia) 01/2017
1	Polycystic Kidney Diseases (Polycystic Kidney Disease) 01/2017
1	Hypercholesterolemia 02/2016
1	Diseases Newborn Infant 11/2014
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 09/2014
1	Mitochondrial Diseases (Mitochondrial Disease) 09/2013
1	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) 10/2011
1	Methylmalonic acidemia 11/2009
1	Homocystinuria 11/2009
1	Barth Syndrome 10/2009
1	Acidosis 06/2004
1	Cardiac Arrhythmias (Arrythmia) 06/2004

Drug/Important Bio-Agent (IBA)

8	phosphomannomutaseIBA 01/2019 - 08/2011
7	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 01/2021 - 11/2002
7	6-propylchromone-2-carboxylic acid (PCCA)IBA 01/2017 - 11/2002
5	Congenital disorder of glycosylation type 1AIBA 01/2019 - 10/2015
4	EnzymesIBA 01/2020 - 11/2002
4	Biotin (Vitamin H)FDA Link 09/2013 - 11/2002
3	Proteins (Proteins, Gene)FDA Link 01/2017 - 06/2004
2	MicroRNAs (MicroRNA)IBA 01/2020 - 01/2017
2	Protein Isoforms (Isoforms)IBA 01/2019 - 01/2008
2	Transferrin (beta 2 Transferrin)IBA 01/2019 - 01/2008
2	Polysaccharides (Glycans)IBA 01/2019 - 05/2013
2	voltage-dependent calcium channel (P-Q type)IBA 01/2019 - 02/2018
2	Leucine (L-Leucine)FDA Link 03/2017 - 04/2005
2	Biomarkers (Surrogate Marker)IBA 01/2017 - 01/2014
1	Branched-Chain Amino AcidsIBA 01/2020
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2020
1	CholesterolIBA 01/2020
1	Acetazolamide (Diamox)FDA LinkGeneric 01/2019
1	Bicarbonates (Hydrogen Carbonate)IBA 01/2019
1	GlycolipidsIBA 01/2019
1	Glycoproteins (Glycoprotein)IBA 01/2019
1	GlycogenIBA 10/2016
1	Transaminases (Aminotransferases)IBA 02/2016
1	Alkaline PhosphataseIBA 02/2016
1	CopperIBA 02/2016
1	Pharmaceutical PreparationsIBA 10/2015
1	AmmoniaIBA 11/2014
1	Methylmalonyl-CoA MutaseIBA 09/2014
1	Methylmalonic AcidIBA 09/2014
1	propionic acid (potassium propionate)IBA 09/2014
1	Sulfite OxidaseIBA 01/2014
1	allysineIBA 01/2014
1	molybdopterin (molybdenum cofactor)IBA 01/2014
1	Reactive Oxygen Species (Oxygen Radicals)IBA 09/2013
1	AntioxidantsIBA 09/2013
1	PhosphoglucomutaseIBA 05/2013
1	Glucose-6-PhosphateIBA 05/2013
1	glucose-1-phosphateIBA 05/2013
1	GlycoconjugatesIBA 05/2013
1	Vitamin B 6IBA 02/2013
1	Pyridoxine (Pyridoxin)FDA LinkGeneric 02/2013
1	BiotinidaseIBA 10/2011
1	Neurotransmitter Agents (Neurotransmitter)IBA 08/2011
1	RNA Splice SitesIBA 02/2011
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 11/2009
1	Cardiolipins (Cardiolipin)IBA 10/2009
1	carbohydrate-deficient transferrinIBA 01/2008
1	3-hydroxy-3-methylglutaryl-coenzyme A lyase (HMG-CoA lyase)IBA 04/2005
1	Lactic Acid (Lactate)FDA LinkGeneric 06/2004
1	Carnitine (L-Carnitine)FDA LinkGeneric 06/2004

Therapy/Procedure

1	Liver Transplantation 02/2016
1	Therapeutics 09/2013