List of works - Alessandra Maresca

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance

scientific article published on 28 June 2014

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

scientific article

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder

scientific article published on 21 January 2021

Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

scientific article published on 23 June 2020

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

scientific article published on 16 March 2020

Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways

scientific article

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

scientific article published on 10 November 2015

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

scientific article published on 14 December 2012

DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions

scientific article published on 8 December 2017

DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?

scientific article published on 12 March 2015

DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism

scientific article published on 27 January 2020

Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models

scientific article published on 04 August 2018

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

scientific article

Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

scientific article published in January 2017

Exploring metabolic reprogramming in melanoma via acquired resistance to the oxidative phosphorylation inhibitor phenformin

scientific article published on 01 February 2020

Gamma rays induce a p53-independent mitochondrial biogenesis that is counter-regulated by HIF1α.

scientific article published on 13 June 2013

Genetic Basis of Mitochondrial Optic Neuropathies.

scientific article

Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases.

scientific article published on 24 February 2018

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

scientific article published on 13 April 2015

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

scientific article

Incomplete penetrance in mitochondrial optic neuropathies

scientific article

Mitochondria: Biogenesis and mitophagy balance in segregation and clonal expansion of mitochondrial DNA mutations.

scientific article published on 07 February 2015

Mitochondrial Mass Assessment in a Selected Cell Line under Different Metabolic Conditions

scientific article published on 18 November 2019

Mitochondrial diseases in adults

scientific article published on 01 June 2020

Mitochondrial optic neuropathies: how two genomes may kill the same cell type?

scientific article published on June 2007

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

scientific journal article

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions.

scientific article published in June 2017

Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number

scientific article published on 9 May 2013

Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.

scientific article

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy

scientific article published on 14 February 2018

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models

scientific article published in February 2018

Retinal nerve fiber layer thickness in dominant optic atrophy measurements by optical coherence tomography and correlation with age

Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

scientific article published on 01 January 2020

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

scientific article

Targeting estrogen receptor β as preventive therapeutic strategy for Leber's hereditary optic neuropathy.

scientific article published on 26 September 2015

The optic nerve: A “mito-window” on mitochondrial neurodegeneration ⬇️

scientific article published on August 15, 2012

List of works by Alessandra Maresca

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder

Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions

DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?

DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism

Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models

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

Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

Exploring metabolic reprogramming in melanoma via acquired resistance to the oxidative phosphorylation inhibitor phenformin

Gamma rays induce a p53-independent mitochondrial biogenesis that is counter-regulated by HIF1α.

Genetic Basis of Mitochondrial Optic Neuropathies.

Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases.

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

Incomplete penetrance in mitochondrial optic neuropathies

Mitochondria: Biogenesis and mitophagy balance in segregation and clonal expansion of mitochondrial DNA mutations.

Mitochondrial Mass Assessment in a Selected Cell Line under Different Metabolic Conditions

Mitochondrial diseases in adults

Mitochondrial optic neuropathies: how two genomes may kill the same cell type?

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

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions.

Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number

Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models

Retinal nerve fiber layer thickness in dominant optic atrophy measurements by optical coherence tomography and correlation with age

Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

Targeting estrogen receptor β as preventive therapeutic strategy for Leber's hereditary optic neuropathy.

The optic nerve: A “mito-window” on mitochondrial neurodegeneration ⬇️