List of works - Leonardo Caporali

'Behr syndrome' with OPA1 compound heterozygote mutations

scientific article published on 21 August 2014

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

ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy

scientific article published on 26 March 2020

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

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions

scientific article published in 2014

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

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.

scientific article published on 18 January 2018

Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III.

scientific article

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

Diffusion Tensor Imaging Mapping of Brain White Matter Pathology in Mitochondrial Optic Neuropathies

scientific article published on 19 March 2015

Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation

scientific article published on 5 June 2014

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

scientific article

Epilepsy with auditory features: Contribution of known genes in 112 patients

scientific article published in 2021

First missense mutation in an Italian proband with optic atrophy and deafness

article

Genetic Basis of Mitochondrial Optic Neuropathies.

scientific article

HPLC-UV analysis of thymidine and deoxyuridine in plasma of patients with thymidine phosphorylase deficiency

scientific article published on 08 January 2014

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

scientific article published on 24 February 2018

ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy.

scientific article

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

scientific article

Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing

scientific article published on 13 February 2018

Incomplete penetrance in mitochondrial optic neuropathies

scientific article

Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria

scientific article published on 01 June 2018

Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy

scientific article published on 02 March 2017

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

scientific article published on 07 December 2020

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

scientific article published on 07 February 2015

Mitochondrial diseases in adults

scientific article published on 01 June 2020

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

scientific article

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

scientific journal article

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

scientific article published on 20 May 2020

Novel mutations in DNA2 associated with myopathy and mtDNA instability

scientific article published on 02 September 2019

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions.

scientific article published in June 2017

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation

scientific article

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

Pharmacogenetics and Treatment Response in Narcolepsy Type 1: Relevance of the Polymorphisms of the Drug Transporter Gene ABCB1

article

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

scientific article published in February 2018

Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

scientific article published on 25 March 2016

Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies

SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus

scientific article published on 01 April 2019

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

scientific article published on 01 January 2020

Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma

scientific article published on 6 January 2017

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

scientific article

Terminal-restriction fragment length polymorphism analysis of biphenyl dioxygenase genes from a polychlorinated biphenyl-polluted soil

scientific article

The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica)

scientific article published on 01 June 2022

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

scientific article published on August 15, 2012

Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy.

scientific article

Whole Mitogenomes Reveal the History of Swamp Buffalo: Initially Shaped by Glacial Periods and Eventually Modelled by Domestication

scientific article

List of works by Leonardo Caporali

'Behr syndrome' with OPA1 compound heterozygote mutations

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

ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy

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

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions

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

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.

Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III.

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

Diffusion Tensor Imaging Mapping of Brain White Matter Pathology in Mitochondrial Optic Neuropathies

Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation

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

Epilepsy with auditory features: Contribution of known genes in 112 patients

First missense mutation in an Italian proband with optic atrophy and deafness

Genetic Basis of Mitochondrial Optic Neuropathies.

HPLC-UV analysis of thymidine and deoxyuridine in plasma of patients with thymidine phosphorylase deficiency

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

ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy.

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing

Incomplete penetrance in mitochondrial optic neuropathies

Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria

Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

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

Mitochondrial diseases in adults

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

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

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

Novel mutations in DNA2 associated with myopathy and mtDNA instability

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions.

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation

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

Pharmacogenetics and Treatment Response in Narcolepsy Type 1: Relevance of the Polymorphisms of the Drug Transporter Gene ABCB1

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

Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies

SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

Terminal-restriction fragment length polymorphism analysis of biphenyl dioxygenase genes from a polychlorinated biphenyl-polluted soil

The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica)

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

Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy.

Whole Mitogenomes Reveal the History of Swamp Buffalo: Initially Shaped by Glacial Periods and Eventually Modelled by Domestication