List of works - Valerio Carelli

The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool

scientific article

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

scientific article

Disturbed mitochondrial dynamics and neurodegenerative disorders

scientific article published on 09 December 2014

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

scientific article

Multi-system neurological disease is common in patients with OPA1 mutations

scientific article

Proteolytic cleavage of Opa1 stimulates mitochondrial inner membrane fusion and couples fusion to oxidative phosphorylation

scientific article

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion

scientific article published in February 2008

Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage

scholarly article

The clinical maze of mitochondrial neurology

scientific article published on 09 July 2013

Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors.

scholarly article

Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.

scientific article

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

scientific article

Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy

scientific article published in January 2005

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

scientific article

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

scientific article published on 19 September 2008

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

scientific article published on 25 October 2010

New treatments for mitochondrial disease-no time to drop our standards

scientific article published on 02 July 2013

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians

scientific article

Mitochondrial DNA signals of late glacial recolonization of Europe from near eastern refugia

scientific article

Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium

scientific article

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders

scientific article

Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies

scientific article

Mouse mtDNA mutant model of Leber hereditary optic neuropathy.

scientific article

Idebenone treatment in Leber's hereditary optic neuropathy.

scientific article published on 2 August 2011

Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography

scientific article

Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids

scientific article

Correlation between retinal nerve fibre layer thickness and optic nerve head size: an optical coherence tomography study.

scientific article published on April 2005

Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction

scientific article

Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.

scientific article published in October 1994

Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G.

scientific article

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

scientific article published on May 1995

Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy

scientific article published on 01 March 1999

Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy

scientific article published in November 2004

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

scientific journal article

Visual system involvement in patients with Friedreich's ataxia

scientific article

Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations

scientific article published in January 2005

Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy.

scientific article published in August 2003

Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels

scientific article

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

article

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

scientific article

The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization

scientific article published on 22 December 2009

The effects of idebenone on mitochondrial bioenergetics

scientific article

The Interaction of Q Analogs, Particularly Hydroxydecyl Benzoquinone (Idebenone), with the Respiratory Complexes of Heart Mitochondria

scientific article published on 01 June 1996

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

scientific article published in May 2013

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy

scientific article published in November 2004

Leber’s Hereditary Optic Neuropathy

scientific article published on 01 February 2011

Detection and quantification of retinal nerve fiber layer thickness in optic disc edema using stratus OCT.

scientific article

Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines.

scientific article published on September 2004

Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration

scientific article published in July 2004

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

scientific article

List of works by Valerio Carelli

The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool

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

Disturbed mitochondrial dynamics and neurodegenerative disorders

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

Multi-system neurological disease is common in patients with OPA1 mutations

Proteolytic cleavage of Opa1 stimulates mitochondrial inner membrane fusion and couples fusion to oxidative phosphorylation

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion

Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage

The clinical maze of mitochondrial neurology

Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors.

Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

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

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

New treatments for mitochondrial disease-no time to drop our standards

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians

Mitochondrial DNA signals of late glacial recolonization of Europe from near eastern refugia

Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders

Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies

Mouse mtDNA mutant model of Leber hereditary optic neuropathy.

Idebenone treatment in Leber's hereditary optic neuropathy.

Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography

Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids

Correlation between retinal nerve fibre layer thickness and optic nerve head size: an optical coherence tomography study.

Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction

Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.

Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G.

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy

Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Visual system involvement in patients with Friedreich's ataxia

Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations

Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy.

Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization

The effects of idebenone on mitochondrial bioenergetics

The Interaction of Q Analogs, Particularly Hydroxydecyl Benzoquinone (Idebenone), with the Respiratory Complexes of Heart Mitochondria

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy

Leber’s Hereditary Optic Neuropathy

Detection and quantification of retinal nerve fiber layer thickness in optic disc edema using stratus OCT.

Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines.

Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?