M Ugarte Selected Research

Propionic Acidemia

1/2012	Mutation analysis in 54 propionic acidemia patients.
2/2011	Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.
12/2007	Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.
9/2004	Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
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.
3/2002	Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits.
12/2001	Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.
9/2001	Structure of the PCCA gene and distribution of mutations causing propionic acidemia.

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M Ugarte Research Topics

Disease

9	Propionic Acidemia 01/2012 - 09/2001
6	Inborn Genetic Diseases (Disease, Hereditary) 01/2018 - 09/2000
4	Phenylketonurias (Phenylketonuria) 01/2018 - 01/2000
4	Methylmalonic acidemia 06/2015 - 12/2007
3	Tyrosinemias (Tyrosinemia) 08/2014 - 06/2000
3	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2014 - 08/2002
3	Metabolic Diseases (Metabolic Disease) 07/2013 - 01/2003
2	Methylmalonic aciduria cblB type 01/2022 - 01/2018
2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2018 - 01/2011
1	VLCAD deficiency 01/2018
1	Autistic Disorder (Autism) 01/2016
1	Congenital Disorders of Glycosylation 01/2015
1	Homocystinuria 01/2015
1	Rare Diseases (Rare Disease) 08/2014
1	Molybdenum cofactor deficiency 01/2014
1	Type I Xanthinuria 01/2014
1	Purine Nucleoside Phosphorylase Deficiency 01/2014
1	Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome) 01/2014
1	Dihydropyrimidine Dehydrogenase Deficiency 01/2014
1	Chronic Kidney Failure (Chronic Renal Failure) 07/2013
1	Methylmalonic aciduria cblA type 07/2013
1	Hyperammonemia 01/2013
1	Fibrosis (Cirrhosis) 10/2008
1	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2007
1	Ethylmalonic encephalopathy 10/2006
1	Aniseikonia 12/2005
1	Epiretinal Membrane (Epiretinal Membranes) 12/2005
1	Macular Degeneration (Age-Related Maculopathy) 06/2001
1	Dystonia (Limb Dystonia) 09/2000
1	Dyskinesias (Dyskinesia) 09/2000

Drug/Important Bio-Agent (IBA)

8	EnzymesIBA 01/2022 - 06/2000
7	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 01/2012 - 12/2001
6	6-propylchromone-2-carboxylic acid (PCCA)IBA 02/2011 - 09/2001
5	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
2	Congenital disorder of glycosylation type 1AIBA 01/2018 - 01/2011
2	AcidsIBA 01/2016 - 01/2014
2	fumarylacetoacetase (fumarylacetoacetate hydrolase)IBA 08/2014 - 09/2002
2	Tyrosine (L-Tyrosine)FDA Link 08/2014 - 06/2000
2	Nonsense Codon (Nonsense Mutation)IBA 11/2012 - 06/2000
1	cob(I)alamin adenosyltransferaseIBA 01/2022
1	acylcarnitineIBA 01/2018
1	Oxidoreductases (Dehydrogenase)IBA 01/2016
1	Phosphotransferases (Kinase)IBA 01/2016
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 06/2015
1	SugarsIBA 01/2015
1	Glycoside Hydrolases (Endoglycosidases)IBA 01/2015
1	GlycosyltransferasesIBA 01/2015
1	CystathionineIBA 01/2015
1	succinylacetoneIBA 08/2014
1	fumarylacetoacetateIBA 08/2014
1	Adenylosuccinate lyase deficiencyIBA 01/2014
1	purineIBA 01/2014
1	pyrimidineIBA 01/2014
1	Amino Acids FDA Link 01/2014
1	VitaminsIBA 01/2013
1	AminoglycosidesIBA 11/2012
1	RNA Splice SitesIBA 02/2011
1	IronIBA 10/2008
1	Transaminases (Aminotransferases)IBA 10/2008
1	Ferritins (Ferritin)IBA 10/2008
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	sapropterin (tetrahydrobiopterin)FDA Link 10/2007
1	isobutyryl-1-carnitineIBA 10/2006
1	N-acetyltalosaminuronic acid (NAT)IBA 12/2005
1	Biotin (Vitamin H)FDA Link 01/2003
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2003
1	SAICARIBA 08/2002
1	ZincIBA 06/2001
1	Glutaryl-CoA DehydrogenaseIBA 09/2000
1	4-Hydroxyphenylpyruvate DioxygenaseIBA 06/2000

Therapy/Procedure

3	Therapeutics 12/2009 - 10/2006
1	Contraindications 07/2013
1	Kidney Transplantation 07/2013
1	Organ Transplantation 07/2013
1	Hemodiafiltration 01/2013
1	Lenses 12/2005