Lista de obras -

A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).

artículo científico publicado en 2018

Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy

artículo científico publicado en 2016

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

artículo científico publicado en 2016

BAG-1 proteins protect cardiac myocytes from simulated ischemia/reperfusion-induced apoptosis via an alternate mechanism of cell survival independent of the proteasome.

artículo científico

Cardioprotection mediated by urocortin is dependent on PKCepsilon activation.

artículo científico publicado en 2005

Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth

artículo científico publicado en 2018

Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.

artículo científico publicado en 2017

Effects of polyclonal IgG derived from patients with different clinical types of the antiphospholipid syndrome on monocyte signaling pathways.

artículo científico publicado en 2010

Exploring open access coverage of Wikipedia-cited research across the White Rose Universities

artículo científico

GAA repeat instability in Friedreich ataxia YAC transgenic mice.

artículo científico publicado en 2004

Genetic Basis of Severe Childhood-Onset Cardiomyopathies

artículo científico publicado en 2018

Genetic background of ataxia in children younger than 5 years in Finland

artículo científico publicado en 2020

Ketogenic diet slows down mitochondrial myopathy progression in mice

artículo científico publicado en 2010

Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers

artículo científico publicado en 2018

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism

artículo científico publicado en 2016

Mitochondrial myopathy induces a starvation-like response

artículo científico publicado en 2010

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

artículo científico publicado en 2012

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia ⬇️

artículo científico publicado en 2017

Next-generation sequencing for mitochondrial disorders

artículo científico publicado en 2014

Regulation of myocardial interleukin-6 expression by p53 and STAT1.

artículo científico publicado en 2013

Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant'

artículo científico publicado en 2018

Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis

artículo científico publicado en 2001

STAT1 regulates p73-mediated Bax gene expression

scientific article published on 01 March 2007

Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation

artículo científico publicado en 2024

Transgenic overexpression of HSP56 does not result in cardiac hypertrophy nor protect from ischaemia/reperfusion injury

artículo científico publicado en 2010

Urocortin inhibits Beclin1-mediated autophagic cell death in cardiac myocytes exposed to ischaemia/reperfusion injury

scientific journal article

Urocortin prevents mitochondrial permeability transition in response to reperfusion injury indirectly by reducing oxidative stress

artículo científico publicado en 2007

Urocortin protects cardiac myocytes from ischemia/reperfusion injury by attenuating calcium-insensitive phospholipase A2 gene expression

scientific journal article

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

artículo científico publicado en 2013

Lista de obras de

A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).

Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

BAG-1 proteins protect cardiac myocytes from simulated ischemia/reperfusion-induced apoptosis via an alternate mechanism of cell survival independent of the proteasome.

Cardioprotection mediated by urocortin is dependent on PKCepsilon activation.

Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth

Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.

Effects of polyclonal IgG derived from patients with different clinical types of the antiphospholipid syndrome on monocyte signaling pathways.

Exploring open access coverage of Wikipedia-cited research across the White Rose Universities

GAA repeat instability in Friedreich ataxia YAC transgenic mice.

Genetic Basis of Severe Childhood-Onset Cardiomyopathies

Genetic background of ataxia in children younger than 5 years in Finland

Ketogenic diet slows down mitochondrial myopathy progression in mice

Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism

Mitochondrial myopathy induces a starvation-like response

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia ⬇️

Next-generation sequencing for mitochondrial disorders

Regulation of myocardial interleukin-6 expression by p53 and STAT1.

Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant'

Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis

STAT1 regulates p73-mediated Bax gene expression

Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation

Transgenic overexpression of HSP56 does not result in cardiac hypertrophy nor protect from ischaemia/reperfusion injury

Urocortin inhibits Beclin1-mediated autophagic cell death in cardiac myocytes exposed to ischaemia/reperfusion injury

Urocortin prevents mitochondrial permeability transition in response to reperfusion injury indirectly by reducing oxidative stress

Urocortin protects cardiac myocytes from ischemia/reperfusion injury by attenuating calcium-insensitive phospholipase A2 gene expression

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy