M. Gallardo

发表

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

R. Garesse, M. Fernández-Moreno, M. E. Gallardo, 2014, The Biochemical journal.

Evolution Meets Disease: Penetrance and Functional Epistasis of Mitochondrial tRNA Mutations

M. Zeviani, J. Enríquez, P. Fernández-Silva, 2011, PLoS genetics.

Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variants

J. Enríquez, P. Fernández-Silva, R. Moreno-Loshuertos, 2006, Nature Genetics.

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

M. Fraga, R. Garesse, A. Moreno-Izquierdo, 2016, Stem cell research.

Line Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP 6 gene

M. Fraga, R. Garesse, C. González-Páramos, 2016 .

The thyroid hormone receptor β induces DNA damage and premature senescence

L. Sachs, N. Buisine, A. Zambrano, 2014, The Journal of cell biology.

Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia

P. Bovolenta, S. Rodríguez de Córdoba, C. Ayuso, 2004, American journal of medical genetics. Part A.

Six9 (Optx2), a new member of the Six gene family of transcription factors, is expressed at early stages of vertebrate ocular and pituitary development

P. Bovolenta, J. Lopez-Rios, S. R. Córdoba, 1999, Mechanisms of Development.

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

R. Schwarzenbacher, D. Figarella-Branger, C. La Morgia, 2008, Brain : a journal of neurology.

Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.

P. Bovolenta, H. Brunner, J. Lopez-Rios, 1999, Genomics.

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

P. Bovolenta, J. Lopez-Rios, S. Rodríguez de Córdoba, 1999, Genomics.

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

D. Pérez-Caballero, S. Rodríguez de Córdoba, M. López-Trascasa, 2001, American journal of human genetics.

Mitochondrial tRNA Valine in Cardiomyopathies

B. Bornstein, R. Garesse, M. E. Gallardo, 2015 .

Mitochondrial cardiomyopathy Chapter 7 Mitochondrial tRNA Valine in Cardiomyopathies

B. Bornstein, R. Garesse, M. E. Gallardo, 2014 .

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

J. Millán, F. Magdinier, J. Arenas, 2022, International journal of molecular sciences.

Generating Rho-0 Cells Using Mesenchymal Stem Cell Lines

F. Blanco, R. Garesse, T. Hermida-Gómez, 2016, PloS one.

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

B. Bornstein, R. Garesse, M. E. Gallardo, 2014, BMC Research Notes.

Hereditary Optic Neuropathies: Induced Pluripotent Stem Cell-Based 2D/3D Approaches

J. Arenas, M. E. Gallardo, Marta García-López, 2021, Genes.

Genetic basis of end‐stage hypertrophic cardiomyopathy

B. Bornstein, P. García-Pavía, R. Garesse, 2011, European journal of heart failure.

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

R. Garesse, M. E. Gallardo, Teresa Galera-Monge, 2019, Journal of cellular physiology.

Enhanced tumorigenicity by mitochondrial DNA mild mutations

M. Quintanilla, R. Garesse, A. Cruz-Bermúdez, 2015, Oncotarget.

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

B. Bornstein, P. García-Pavía, R. Garesse, 2012, European heart journal.

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

Miguel Ángel Martín, J. Ehinger, E. Elmér, 2020, International journal of molecular sciences.

m.6267G>A: a recurrent mutation in the human mitochondrial DNA that reduces cytochrome c oxidase activity and is associated with tumors

J. Enríquez, Javier Silva, F. Bonilla, 2006, Human mutation.

iPSCs: A powerful tool for skeletal muscle tissue engineering

M. E. Gallardo, María Del Carmen Ortuño-Costela, Marta García-López, 2019, Journal of cellular and molecular medicine.

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

A. Valencia, P. Fisher, S. Annesley, 2010, Journal of Cell Science.

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

S. Rodríguez de Córdoba, E. Goicoechea de Jorge, S. R. Córdoba, 2002, Journal of medical genetics.

Reply to “Reactive oxygen species and the segregation of mtDNA sequence variants”

J. Enríquez, P. Fernández-Silva, R. Moreno-Loshuertos, 2007, Nature Genetics.

Familial syndromic esophageal atresia maps to 2p23-p24.

J. Celli, H. Bokhoven, R. Hennekam, 2000, American journal of human genetics.

UvA-DARE ( Digital Academic Repository ) Familial syndromic esophegeal atresia maps to p 23p 24

R. Hennekam, J. Tolmie, H. Brunner, 2022 .

The pathogenicity scoring system for mitochondrial tRNA mutations revisited

B. Bornstein, R. Garesse, M. Fernández-Moreno, 2013, Molecular genetics & genomic medicine.

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

J. Arredondo, M. Cervera, B. Bornstein, 2012, Mitochondrion.

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

A. Lucia, E. Emanuele, H. Pareja-Galeano, 2016, Ageing Research Reviews.