List of works - Valeria Tiranti

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

scientific article (publication date: 1993)

A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation

scientific article published on 7 July 2006

A full-length cDNA encoding a mitochondrial DNA-specific single-stranded DNA binding protein from Xenopus laevis

scientific article

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.

scientific article published on 17 November 2012

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

scientific article

A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family

scientific article

A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients

scientific article

A novel mutation (8342G→A) in the mitochondrial tRNALys gene associated with progressive external ophthalmoplegia and myoclonus

article

A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation

scientific article published in January 1998

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

scientific article published in January 2002

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

scientific article published on February 1997

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

scientific article

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

scientific article published on 17 August 2016

Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency

scientific article published on 12 September 2017

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene

article

Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes

scientific article

Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy

scientific article published on January 2013

Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals

scientific article published in February 1999

Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls

scientific article published on 29 October 2019

Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects

scientific article published on 21 June 2008

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation

scientific article published in June 2012

Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN.

scientific article published on 18 April 2017

Characterization and expression of the mouse endonuclease G gene

scientific article (publication date: September 1997)

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions

scientific article published in December 1999

Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients

scientific article

Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis

scientific article

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy

scientific article published on 25 February 2011

Classification and molecular pathogenesis of NBIA syndromes.

scientific article published on 17 January 2018

Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB)

scientific journal article

Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration

scientific article published on 11 August 2016

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

scientific article

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

scientific article

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

scientific journal article

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients

scientific article

Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron

scientific article

Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy

scientific article published on March 1994

Depletion of mtDNA: syndromes and genes

scientific article published on 5 December 2006

Disorders of mitochondria and related metabolism

scientific article published on April 1997

Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways

scientific article published on 16 November 2018

ETHE1 mutations are specific to ethylmalonic encephalopathy

scientific article

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study

scientific article

Epstein-Barr virus immediate-early protein Zta co-opts mitochondrial single-stranded DNA binding protein to promote viral and inhibit mitochondrial DNA replication

scientific article

Ethylmalonic Encephalopathy

Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.

scientific article

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

scientific article

Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches

scientific article

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

scientific article

Extracellular 4'-phosphopantetheine is a source for intracellular coenzyme A synthesis.

scientific article published on 31 August 2015

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency

scientific article published on 4 September 2008

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.

scientific article published on 5 May 2016

Genetic diagnosis of Mendelian disorders via RNA sequencing

scientific article published on 12 June 2017

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration ⬇️

scientific article published on 22 May 2020

Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene

scientific article published in January 1999

How do human cells react to the absence of mitochondrial DNA?

scientific article

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

scientific article (publication date: July 2001)

I-4. The devil in a bottle: a sulfurous conundrum in a mitochondrial disease

scientific article

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

scientific article

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

scientific article published on 15 October 2008

Inborn errors of coenzyme A metabolism and neurodegeneration

scientific article published on 01 January 2019

Inborn errors of coenzyme A metabolism and neurodegeneration.

scientific article

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

scientific article

Inherited Mendelian defects of nuclear-mitochondrial communication affecting the stability of mitochondrial DNA.

scientific article published in November 2002

Leigh syndrome transmitted by uniparental disomy of chromosome 9.

scientific article published on December 1999

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease

scientific article

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

scientific article

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency

scientific article published in August 1999

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

scientific journal article

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

scientific article

MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase

scientific article published on February 2017

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene

scientific article published in August 1995

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

scientific article published in The Lancet

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

scientific article

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

scientific article (publication date: March 2012)

Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases

scientific article

Mitochondrial Disorders

scientific article published on 01 January 1998

Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches

scientific article

Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients

scientific article published on 30 March 2015

Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism

scientific article published on 6 April 2015

Molecular Phenotype of the np 7472 Deafness-Associated Mitochondrial Mutation in Osteosarcoma Cell Cybrids

scientific article published on 01 November 1999

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy

scientific article published on 22 October 2011

Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction

scientific article published in May 2001

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

scientific article

Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability

scientific article published on 11 March 2004

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

scientific article

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

scientific article

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

scientific article (publication date: 22 April 2003)

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.

scientific article

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

scientific article

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

scientific article

Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition

scientific article published on 09 February 2019

Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model

scientific article published on 19 December 2020

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

scientific article published on 8 March 2016

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

scientific article

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).

scientific article

Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency

scientific article

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants

scientific article published on November 1995

Nuclear gene defects in mitochondrial disorders

scientific article

Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation

scientific article published in June 2005

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

scientific article published on 06 December 2013

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

scientific journal article

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

scientific article published in February 2018

Phenotypic consequences of a novelSCO2gene mutation

article

Pitfalls in restriction fragment length polymorphism analysis of Leber's hereditary optic neuropathy patients

scientific article published on 01 June 2004

Platinum-induced mitochondrial DNA mutations confer lower sensitivity to paclitaxel by impairing tubulin cytoskeletal organization.

scientific article published on 9 May 2017

R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome

scientific article published on 03 July 2018

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation

scientific article

Reduced mitochondrial Ca(2+) transients stimulate autophagy in human fibroblasts carrying the 13514A>G mutation of the ND5 subunit of NADH dehydrogenase.

scientific article

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy

scientific article published on 14 February 2018

Role of adenine nucleotide translocator 1 in mtDNA maintenance

scientific article

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency

scientific article published in December 2017

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

scientific article published on 01 January 2020

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype

scientific article published on 27 March 2018

Searching for genes affecting the structural integrity of the mitochondrial genome

scientific article

Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy

scientific article published on 01 August 1995

Severe infantile hypotonia with ethylmalonic aciduria: case report

scientific article

Severely impaired respiratory chain causes multisystem apoptosis-driven developmental defects, a new mitochondrial phenotype in vertebrates

Single-stranded-DNA-binding proteins from human mitochondria and Escherichia coli have analogous physicochemical properties.

scientific article

TFG binds LC3C to regulate ULK1 localization and autophagosome formation

scientific article published on 01 May 2021

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

scientific article

The V368i mutation in Twinkle does not segregate with AdPEO

scientific article (publication date: February 2003)

The gene (NFE2L1) for human NRF-1, an activator involved in nuclear-mitochondrial interactions, maps to 7q32.

scientific article

Therapeutic Approaches to Treat Mitochondrial Diseases: "One-Size-Fits-All" and "Precision Medicine" Strategies

scientific article published on 11 November 2020

Transcriptional requirements of the distal heavy-strand promoter of mtDNA.

scientific article published on 27 March 2012

Unusual association of sporadic olivopontocerebellar atrophy and motor neuron disease

scientific article published on 01 December 2002

adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria

scientific article published on 17 May 2011

List of works by Valeria Tiranti

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation

A full-length cDNA encoding a mitochondrial DNA-specific single-stranded DNA binding protein from Xenopus laevis

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family

A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients

A novel mutation (8342G→A) in the mitochondrial tRNALys gene associated with progressive external ophthalmoplegia and myoclonus

A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

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

Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene

Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes

Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy

Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals

Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls

Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation

Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN.

Characterization and expression of the mouse endonuclease G gene

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions

Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients

Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy

Classification and molecular pathogenesis of NBIA syndromes.

Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB)

Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients

Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron

Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy

Depletion of mtDNA: syndromes and genes

Disorders of mitochondria and related metabolism

Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways

ETHE1 mutations are specific to ethylmalonic encephalopathy

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study

Epstein-Barr virus immediate-early protein Zta co-opts mitochondrial single-stranded DNA binding protein to promote viral and inhibit mitochondrial DNA replication

Ethylmalonic Encephalopathy

Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

Extracellular 4'-phosphopantetheine is a source for intracellular coenzyme A synthesis.

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration ⬇️

Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene

How do human cells react to the absence of mitochondrial DNA?

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

I-4. The devil in a bottle: a sulfurous conundrum in a mitochondrial disease

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

Inborn errors of coenzyme A metabolism and neurodegeneration

Inborn errors of coenzyme A metabolism and neurodegeneration.

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

Inherited Mendelian defects of nuclear-mitochondrial communication affecting the stability of mitochondrial DNA.

Leigh syndrome transmitted by uniparental disomy of chromosome 9.

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases

Mitochondrial Disorders

Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches

Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients

Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism

Molecular Phenotype of the np 7472 Deafness-Associated Mitochondrial Mutation in Osteosarcoma Cell Cybrids