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Propionic and Methylmalonic Acidemia: Antisense Therapeutics for Intronic Variations Causing Aberrantly Spliced Messenger RNA

American journal of human genetics, 2007-12, Vol.81 (6), p.1262-1270

2007

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Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain

Gene, 2013-05, Vol.521 (1), p.100-104

2013

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Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type

Stem cell research, 2018-05, Vol.29, p.143-147

2018

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Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria)

Human mutation, 2009-12, Vol.30 (12), p.1676-1682

2009

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Propionic acidemia: identification of twenty-four novel mutations in Europe and North America

Molecular genetics and metabolism, 2003, Vol.78 (1), p.59-67

2003

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Protein misfolding diseases: Prospects of pharmacological treatment

Clinical genetics, 2018-03, Vol.93 (3), p.450-458

2018

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Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning

Biochimica et biophysica acta. Molecular basis of disease, 2022-09, Vol.1868 (9), p.166433-166433, Article 166433

2022

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Proteostasis regulators as potential rescuers of PMM2 activity

Biochimica et biophysica acta. Molecular basis of disease, 2020-07, Vol.1866 (7), p.165777-165777, Article 165777

2020

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Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic acidemia

Biochimica et biophysica acta. Molecular basis of disease, 2020-01, Vol.1866 (1), p.165586, Article 165586

2020

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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

Free radical biology & medicine, 2016-07, Vol.96, p.1-12

2016

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Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias

Clinical genetics, 2016-09, Vol.90 (3), p.252-257

2016

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Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies

Clinical genetics, 2015-06, Vol.87 (6), p.576-581

2015

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Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG

Clinical genetics, 2015-01, Vol.87 (1), p.42-48

2015

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Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I

Clinical genetics, 2014-08, Vol.86 (2), p.167-171

2014

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Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias: New mutations in MUT , PCCB , BCKDHA and BCKDHB genes

Clinical genetics, 2016-09, Vol.90 (3), p.252-257

2016

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Readthrough Strategies for Therapeutic Suppression of Nonsense Mutations in Inherited Metabolic Disease

Molecular syndromology, 2012-11, Vol.3 (5), p.230-236

2012

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Propionic acidemia: mutation update and functional and structural effects of the variant alleles

Molecular genetics and metabolism, 2004-09, Vol.83 (1), p.28-37

2004

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Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts

Biochimica et biophysica acta, 2003-05, Vol.1638 (1), p.43-49

2003

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Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria

Molecular genetics and metabolism, 2003-11, Vol.80 (3), p.315-320

2003

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Effect of PCCB Gene Mutations on the Heteromeric and Homomeric Assembly of Propionyl-CoA Carboxylase

Molecular genetics and metabolism, 2001-12, Vol.74 (4), p.476-483

2001

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Molecular basis of phenylketonuria in Cuba

Human mutation, 2001-09, Vol.18 (3), p.252-252

2001

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Transfection Screening for Defects in the PCCA and PCCB Genes Encoding Propionyl-CoA Carboxylase Subunits

Molecular genetics and metabolism, 2002-03, Vol.75 (3), p.276-279

2002

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Molecular basis of phenylketonuria in Cuba: Mutations in Brief

Human mutation, 2001-09, Vol.18 (3), p.252-252

2001

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Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population

European journal of human genetics : EJHG, 1997-07, Vol.5 (4), p.196-202

1997

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Propionic and Methylmalonic Acidemia: Antisense Therapeutics for Intronic Variations Causing Aberrantly Spliced Messenger RNA

Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain

Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria)

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America

Protein misfolding diseases: Prospects of pharmacological treatment

Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning

Proteostasis regulators as potential rescuers of PMM2 activity

Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic acidemia

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

Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias

Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies

Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG

Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I

Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias: New mutations in MUT , PCCB , BCKDHA and BCKDHB genes

Readthrough Strategies for Therapeutic Suppression of Nonsense Mutations in Inherited Metabolic Disease

Propionic acidemia: mutation update and functional and structural effects of the variant alleles

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts

Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria

Effect of PCCB Gene Mutations on the Heteromeric and Homomeric Assembly of Propionyl-CoA Carboxylase

Molecular basis of phenylketonuria in Cuba

Transfection Screening for Defects in the PCCA and PCCB Genes Encoding Propionyl-CoA Carboxylase Subunits

Molecular basis of phenylketonuria in Cuba: Mutations in Brief

Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population

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