Lista de obras -

Abeta accumulation in choroid plexus is associated with mitochondrial-induced apoptosis.

artículo científico publicado en 2008

Altered Expression Ratio of Actin-Binding Gelsolin Isoforms Is a Novel Hallmark of Mitochondrial OXPHOS Dysfunction

artículo científico publicado en 2020

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

artículo científico publicado en 2006

Bulk autophagy, but not mitophagy, is increased in cellular model of mitochondrial disease

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.

artículo científico publicado en 2010

Complex I assembly: a puzzling problem.

artículo científico publicado en 2004

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.

artículo científico publicado en 2004

Cytoplasmic gelsolin increases mitochondrial activity and reduces Abeta burden in a mouse model of Alzheimer's disease.

artículo científico publicado en 2009

Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.

artículo científico publicado en 2014

Gelsolin restores A beta-induced alterations in choroid plexus epithelium.

artículo científico publicado en 2010

Human COX7A2L Regulates Complex III Biogenesis and Promotes Supercomplex Organization Remodeling without Affecting Mitochondrial Bioenergetics

scientific article published on 01 November 2018

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.

artículo científico publicado en 2004

Human mitochondrial complex I assembly is mediated by NDUFAF1.

artículo científico publicado en 2005

Identification of a proximal promoter region critical for the expression of the beta-F1-ATPase gene during Drosophila melanogaster development.

artículo científico publicado en 2001

Impact of the mitochondrial genetic background in complex III deficiency

artículo científico publicado en 2010

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene ⬇️

artículo científico publicado el 1 de noviembre de 2003

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

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

artículo científico publicado en 2008

Mitochondrial disorders due to nuclear OXPHOS gene defects.

artículo científico publicado en 2009

Mitochondrial respiratory chain dysfunction: implications in neurodegeneration.

artículo científico

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

artículo científico publicado en 2020

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

artículo científico publicado en 2006

New perspectives on the assembly process of mitochondrial respiratory chain complex cytochrome c oxidase.

artículo científico publicado en 2002

Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities

artículo científico publicado en 2019

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

artículo científico publicado en 2020

Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.

artículo científico publicado en 2009

Respiratory chain enzyme deficiency induces mitochondrial location of actin-binding gelsolin to modulate the oligomerization of VDAC complexes and cell survival.

artículo científico publicado en 2017

Respiratory chain supercomplexes: Structures, function and biogenesis.

artículo científico publicado en 2017

Respiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IV

scientific article published on 08 January 2020

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

artículo científico publicado en 2007

Lista de obras de

Abeta accumulation in choroid plexus is associated with mitochondrial-induced apoptosis.

Altered Expression Ratio of Actin-Binding Gelsolin Isoforms Is a Novel Hallmark of Mitochondrial OXPHOS Dysfunction

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

Bulk autophagy, but not mitophagy, is increased in cellular model of mitochondrial disease

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

Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.

Complex I assembly: a puzzling problem.

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.

Cytoplasmic gelsolin increases mitochondrial activity and reduces Abeta burden in a mouse model of Alzheimer's disease.

Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.

Gelsolin restores A beta-induced alterations in choroid plexus epithelium.

Human COX7A2L Regulates Complex III Biogenesis and Promotes Supercomplex Organization Remodeling without Affecting Mitochondrial Bioenergetics

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.

Human mitochondrial complex I assembly is mediated by NDUFAF1.

Identification of a proximal promoter region critical for the expression of the beta-F1-ATPase gene during Drosophila melanogaster development.

Impact of the mitochondrial genetic background in complex III deficiency

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene ⬇️

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

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

Mitochondrial disorders due to nuclear OXPHOS gene defects.

Mitochondrial respiratory chain dysfunction: implications in neurodegeneration.

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

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

New perspectives on the assembly process of mitochondrial respiratory chain complex cytochrome c oxidase.

Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities

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

Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.

Respiratory chain enzyme deficiency induces mitochondrial location of actin-binding gelsolin to modulate the oligomerization of VDAC complexes and cell survival.

Respiratory chain supercomplexes: Structures, function and biogenesis.

Respiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IV

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.