Lista de obras -

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

artículo científico publicado en 1999

Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.

artículo científico publicado en 2002

Cardiac dysfunction in mitochondrial disease. Clinical and molecular features

artículo científico publicado en 2013

Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.

artículo científico publicado en 2001

Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.

artículo científico publicado en 2014

Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report

scientific article published on 03 December 2008

Designing recombinant Pseudomonas strains to enhance biodesulfurization ⬇️

artículo científico publicado el 1 de noviembre de 1997

Enhanced tumorigenicity by mitochondrial DNA mild mutations

artículo científico publicado en 2015

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg

artículo científico publicado en 2017

Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease

artículo científico publicado en 2017

Familial syndromic esophageal atresia maps to 2p23-p24.

artículo científico publicado en 2000

Generating Rho-0 Cells Using Mesenchymal Stem Cell Lines.

artículo científico publicado en 2016

Generation of a human control iPSC line with a European mitochondrial haplogroup U background

artículo científico publicado en 2015

Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene.

artículo científico publicado en 2016

Generation of a human iPSC line from a patient with Leigh syndrome.

artículo científico publicado en 2015

Generation of a human iPSC line from a patient with a defect of intergenomic communication.

artículo científico publicado en 2015

Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene.

artículo científico publicado en 2015

Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene.

artículo científico publicado en 2016

Genetic basis of end-stage hypertrophic cardiomyopathy.

artículo científico publicado en 2011

Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene.

artículo científico publicado en 1999

Glutamyl-tRNAGln amidotransferase is essential for mammalian mitochondrial translation in vivo

scientific journal article

IPSCs, a Promising Tool to Restore Muscle Atrophy.

artículo científico publicado en 2015

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

artículo científico publicado en 2010

MidA is a putative methyltransferase that is required for mitochondrial complex I function

artículo científico publicado en 2010

Mitochondrial Dysfunction and Calcium Dysregulation in Leigh Syndrome Induced Pluripotent Stem Cell Derived Neurons

scientific article published on 30 April 2020

Mitochondrial haplogroups associated with end-stage heart failure and coronary allograft vasculopathy in heart transplant patients

artículo científico publicado en 2011

Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies

scientific article published on 01 October 2011

Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma

scientific article published on 01 October 2002

Reprogramming for Cardiac Regeneration-Strategies for Innovation.

artículo científico publicado en 2016

The Challenge of Bringing iPSCs to the Patient ⬇️

scientific article published on 13 December 2019

The mutation m.13513G>A impairs cardiac function, favoring a neuroectoderm commitment, in a mutant-load dependent way

artículo científico publicado en 2019

The pathogenicity scoring system for mitochondrial tRNA mutations revisited

artículo científico publicado en 2013

The thyroid hormone receptor β induces DNA damage and premature senescence.

scientific article published on January 2014

[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]

artículo científico publicado en 2010

iPSCs, a Future Tool for Therapeutic Intervention in Mitochondrial Disorders: Pros and Cons.

artículo científico publicado en 2016

iPSCs-based anti-aging therapies: Recent discoveries and future challenges.

artículo científico publicado en 2016

iPSCs: A powerful tool for skeletal muscle tissue engineering

artículo científico publicado en 2019

Lista de obras de

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.

Cardiac dysfunction in mitochondrial disease. Clinical and molecular features

Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.

Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.

Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report

Designing recombinant Pseudomonas strains to enhance biodesulfurization ⬇️

Enhanced tumorigenicity by mitochondrial DNA mild mutations

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg

Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease

Familial syndromic esophageal atresia maps to 2p23-p24.

Generating Rho-0 Cells Using Mesenchymal Stem Cell Lines.

Generation of a human control iPSC line with a European mitochondrial haplogroup U background

Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene.

Generation of a human iPSC line from a patient with Leigh syndrome.

Generation of a human iPSC line from a patient with a defect of intergenomic communication.

Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene.

Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene.

Genetic basis of end-stage hypertrophic cardiomyopathy.

Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene.

Glutamyl-tRNAGln amidotransferase is essential for mammalian mitochondrial translation in vivo

IPSCs, a Promising Tool to Restore Muscle Atrophy.

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

MidA is a putative methyltransferase that is required for mitochondrial complex I function

Mitochondrial Dysfunction and Calcium Dysregulation in Leigh Syndrome Induced Pluripotent Stem Cell Derived Neurons

Mitochondrial haplogroups associated with end-stage heart failure and coronary allograft vasculopathy in heart transplant patients

Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies

Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma

Reprogramming for Cardiac Regeneration-Strategies for Innovation.

The Challenge of Bringing iPSCs to the Patient ⬇️

The mutation m.13513G>A impairs cardiac function, favoring a neuroectoderm commitment, in a mutant-load dependent way

The pathogenicity scoring system for mitochondrial tRNA mutations revisited

The thyroid hormone receptor β induces DNA damage and premature senescence.

[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]

iPSCs, a Future Tool for Therapeutic Intervention in Mitochondrial Disorders: Pros and Cons.

iPSCs-based anti-aging therapies: Recent discoveries and future challenges.

iPSCs: A powerful tool for skeletal muscle tissue engineering