I. García-Consuegra

发表

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.

Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study

Miguel Ángel Martín, A. Delmiro, I. García‐Consuegra, 2021, International journal of molecular sciences.

A new phenotype of dysferlinopathy with congenital onset

C. Paradas, I. Illa, E. Gallardo, 2009, Neuromuscular Disorders.

Expression of Regulatory Proteins in Choroid Plexus Changes in Early Stages of Alzheimer Disease

I. Ferrer, E. Carro, D. Antequera, 2015, Journal of neuropathology and experimental neurology.

Melatonin improves mitochondrial respiratory chain activity and liver morphology in ob/ob mice

I. García‐Consuegra, J. Solís-Herruzo, T. Muñoz-Yagüe, 2011, Journal of pineal research.

Mitochondrial complex I plays an essential role in human respirasome assembly.

F. Fontanesi, J. Arenas, Miguel Ángel Martín, 2012, Cell metabolism.

Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report

A. Lucia, J. Arenas, Miguel Ángel Martín, 2020, Genes.

Role of FAST Kinase Domains 3 (FASTKD3) in Post-transcriptional Regulation of Mitochondrial Gene Expression*

Alexis A. Jourdain, J. Martinou, Miguel Ángel Martín, 2016, The Journal of Biological Chemistry.

Differential proteomic and oxidative profiles unveil dysfunctional protein import to adipocyte mitochondria in obesity-associated aging and diabetes

M. Rubio, I. Bretón, J. López, 2016, Redox biology.

Genotype modulators of clinical severity in McArdle disease

Margarita Pérez, A. Lucia, J. Arenas, 2007, Neuroscience Letters.

Whole‐Exome Sequencing Identifies a Variant of the Mitochondrial MT‐ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox–Gastaut Syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2013, Human mutation.

Tumor–Stromal Interactions in a Co-Culture Model of Human Pancreatic Adenocarcinoma Cells and Fibroblasts and Their Connection with Tumor Spread

L. Paz-Ares, M. T. Agulló-Ortuño, J. López-Martín, 2021, Biomedicines.

Tumor-Stroma Co-Cultures Modify the Invasive Properties of Human Pancreatic Adenocarcinoma Cells Through Different Patterns of Cytokine Secretion and Depending on the Type of Cell Lines.

L. Paz-Ares, M. T. Agulló-Ortuño, J. López-Martín, 2021 .

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients

Alejandro Lucia, Ana Cabello, Alberto Blazquez, 2007, Human mutation.

Taking advantage of an old concept, “illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease

A. Lucia, G. Nogales-Gadea, J. Arenas, 2016, Genetics in Medicine.

Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle's Disease Carrying the p.R771PfsX33 PYGM Mutation

A. Lucia, G. Nogales-Gadea, J. Arenas, 2010, PloS one.

Mitochondrial complex I plays an essential role in human respirasome assembly

F. Fontanesi, J. Arenas, Miguel Ángel Martín, 2012 .

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense‐mediated mRNA decay

A. Lucia, I. Férnandez-Cadenas, G. Nogales-Gadea, 2008, Human mutation.

COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.

J. Arenas, Miguel Ángel Martín, Dusanka Milenkovic, 2016, Cell reports.

Multiple pathways coordinate assembly of human mitochondrial complex IV and stabilization of respiratory supercomplexes

F. Fontanesi, J. Arenas, Miguel Ángel Martín, 2020, The EMBO journal.

A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene

J. Arenas, Miguel Ángel Martín, C. Ugalde, 2023, International journal of molecular sciences.

Muscle Signaling in Exercise Intolerance: Insights from the McArdle Mouse Model.

A. Lucia, G. Nogales-Gadea, J. Arenas, 2016, Medicine and science in sports and exercise.

Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis

A. Santalla, G. Nogales-Gadea, J. Arenas, 2022, International journal of molecular sciences.

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry

A. Santalla, Margarita Pérez, A. Lucia, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

A. Lucia, G. Nogales-Gadea, J. Arenas, 2008, Journal of Medical Genetics.

AMPD1 Genotypes and Exercise Capacity in McArdle Patients

A. Lucia, M. Pérez, J. Arenas, 2007, International journal of sports medicine.

The I allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease

A. Lucia, M. Pérez, J. Arenas, 2007, British Journal of Sports Medicine.

Missense mutations have unexpected consequences: The McArdle disease paradigm

A. Lucia, G. Nogales-Gadea, J. Arenas, 2018, Human mutation.

The Addiction‐Related Protein ANKK1 is Differentially Expressed During the Cell Cycle in Neural Precursors

J. Hoenicka, T. Palomo, R. Vidal, 2017, Cerebral cortex.

The ANKK1 Protein Associated with Addictions has Nuclear and Cytoplasmic Localization and Shows a Differential Response of Ala239Thr to Apomorphine

J. Hoenicka, T. Palomo, I. García‐Consuegra, 2011, Neurotoxicity Research.

TFAM-deficient mouse skin fibroblasts – an ex vivo model of mitochondrial dysfunction

Cristina Municio, M. Mittelbrunn, J. Pablos, 2021, Disease models & mechanisms.

Primary Adenosine Monophosphate (AMP) Deaminase Deficiency in a Hypotonic Infant

M. Castro‐Gago, Miguel Ángel Martín, I. García‐Consuegra, 2011, Journal of child neurology.

Cardiac dysfunction in mitochondrial disease. Clinical and molecular features.

B. Bornstein, P. García-Pavía, Miguel Ángel Martín, 2013, Circulation journal : official journal of the Japanese Circulation Society.

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

G. Nogales-Gadea, A. Cabello, J. Rubio, 2008, Journal of Medical Genetics.