List of works - Rosalba Carrozzo

'Behr syndrome' with OPA1 compound heterozygote mutations

scientific article published on 21 August 2014

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

article

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy

scientific article published on 8 February 2006

A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease

scientific article

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

scientific article published on 15 July 2015

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

scientific article published on 01 August 2000

A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling

scientific article

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

scientific article published on 21 April 2016

Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease

scientific article published on 11 August 2003

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

scientific article

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss

scientific article published on 20 November 2008

Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders

scientific article

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

scientific article published on 11 February 2021

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

scientific article

Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene

article

Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene

scientific article published in April 2009

Cellular and molecular studies in muscle and cultures from patients with multiple mitochondrial DNA deletions.

scientific article published in November 1999

Changes in skeletal muscle histology and metabolism in patients undergoing exercise deconditioning: effect of propionyl-L-carnitine.

scientific article published in September 1997

Clinical and audiological follow up of a family with the 8363G>A mutation in the mitochondrial DNA.

scientific article

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

scientific article published in February 2008

Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.

scientific article published in December 2001

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

scientific article published on 09 March 2019

Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.

scientific article

Correlation between clinical and molecular features in two MELAS families

scientific article

Deep sequencing unearths Nuclear mitochondrial Sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants

scientific article published on 15 May 2012

Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency

article

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB ⬇️

scientific article

Disorders of nuclear-mitochondrial intergenomic signalling.

scientific article

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.

scientific article published on 8 August 2009

Effects of levosimendan on mitochondrial function in patients with septic shock: a randomized trial

scientific article

Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1.

scientific article

Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasis

scientific article published on 4 April 2014

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations

scientific article published on January 2008

Glutathione in blood of patients with Friedreich's ataxia.

scientific article published in November 2001

Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies

scientific article

High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart

scientific article published on 01 September 1997

Human melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers. Abnormal expression in merosin-negative and Duchenne muscular dystrophies.

scientific article published in June 2003

Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes.

scientific article published on 21 November 2005

Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation

scientific article published in January 2002

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria

scientific article

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

scientific article published on 01 October 2018

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

scientific article published on 01 August 2018

Increased NO production in lysinuric protein intolerance

scientific article published in January 2005

Infantile mitochondrial disorders

scientific article

Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient

article

Involvement of the mitochondrial compartment in human NCL fibroblasts

scientific article

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

scientific article

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

scientific article published on 18 February 2013

Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis

scientific article

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia

scientific article (publication date: February 2002)

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers

scientific article published on 22 May 2012

Mitochondrial tRNACys gene mutation (A5814G): a second family with mitochondrial encephalopathy

article

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

scientific article published on May 1995

Mutation analysis in 16 patients with mtDNA depletion.

scientific article published in April 2003

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

scientific article

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

scientific article published on 18 June 2019

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

scientific article

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

scientific article

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

scientific article

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

scientific article published on 12 May 2017

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome

scientific article published on 01 March 2000

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

scientific article published on 28 March 2013

Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

scientific article published on 18 October 2011

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

scientific article published on 26 October 2016

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.

scientific article published on 28 November 2016

OXPHOS and mtDNA alterations in a family with spastic paraparesis

scientific article published on 01 April 2000

Peroxisomal acyl-CoA-oxidase deficiency: two new cases

scientific article

Persistent pulmonary arterial hypertension in the newborn (PPHN): A frequent manifestation of TMEM70 defective patients

article

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

scientific article published on 8 May 2012

Preliminary evidences on mitochondrial injury and impaired oxidative metabolism in breast cancer

scientific article published on 18 February 2012

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

Protein glutathionylation in cellular compartments: A constitutive redox signal

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review

scientific article

Respiratory chain defects in hereditary spastic paraplegias

article

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

scholarly article by Rosalba Carrozzo published in September 2014

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

scientific article published on 14 December 2012

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

scientific article published on 14 February 2007

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

scientific article published on 22 July 2017

Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

scientific article

Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation

scientific article published on 01 March 2006

Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation

scientific article published on 12 May 2006

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

scientific article published on 18 September 2012

The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli

scientific article published on 01 December 2000

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.

scientific article published on 27 August 2011

Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis

scientific article

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

scientific article

Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders.

scientific article

Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy

scientific article published on 01 January 1992

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

scientific article published on 07 January 2009

List of works by Rosalba Carrozzo

'Behr syndrome' with OPA1 compound heterozygote mutations

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy

A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss

Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene

Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene

Cellular and molecular studies in muscle and cultures from patients with multiple mitochondrial DNA deletions.

Changes in skeletal muscle histology and metabolism in patients undergoing exercise deconditioning: effect of propionyl-L-carnitine.

Clinical and audiological follow up of a family with the 8363G>A mutation in the mitochondrial DNA.

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.

Correlation between clinical and molecular features in two MELAS families

Deep sequencing unearths Nuclear mitochondrial Sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants

Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB ⬇️

Disorders of nuclear-mitochondrial intergenomic signalling.

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.

Effects of levosimendan on mitochondrial function in patients with septic shock: a randomized trial

Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1.

Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasis

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations

Glutathione in blood of patients with Friedreich's ataxia.

Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies

High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart

Human melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers. Abnormal expression in merosin-negative and Duchenne muscular dystrophies.

Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes.

Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

Increased NO production in lysinuric protein intolerance

Infantile mitochondrial disorders

Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient

Involvement of the mitochondrial compartment in human NCL fibroblasts

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers

Mitochondrial tRNACys gene mutation (A5814G): a second family with mitochondrial encephalopathy

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

Mutation analysis in 16 patients with mtDNA depletion.

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

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

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.

OXPHOS and mtDNA alterations in a family with spastic paraparesis

Peroxisomal acyl-CoA-oxidase deficiency: two new cases

Persistent pulmonary arterial hypertension in the newborn (PPHN): A frequent manifestation of TMEM70 defective patients

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

Preliminary evidences on mitochondrial injury and impaired oxidative metabolism in breast cancer

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

Protein glutathionylation in cellular compartments: A constitutive redox signal

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review

Respiratory chain defects in hereditary spastic paraplegias

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders