List of works - Rosalba Carrozzo

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

scientific article

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

scientific article published on 14 February 2007

Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation

scientific article published on 12 May 2006

Glutathione in blood of patients with Friedreich's ataxia.

scientific article published in November 2001

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

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

scientific article published in February 2008

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

scientific article published on May 1995

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

scientific article

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

scientific article published on 18 February 2013

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

Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders

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

scientific article

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

scientific article

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

scientific article published on 8 August 2009

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

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

scientific article

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

scientific article

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

scientific article published on 8 February 2006

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

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

scientific article

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

scientific article published on 28 March 2013

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

scientific article published on 01 August 2000

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

scientific article

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

scientific article

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

scientific article published on 15 July 2015

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

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

scientific article published on 14 December 2012

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

scientific article published on 07 January 2009

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

scientific article

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

scientific article published on 26 October 2016

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

scientific article

'Behr syndrome' with OPA1 compound heterozygote mutations

scientific article published on 21 August 2014

Correlation between clinical and molecular features in two MELAS families

scientific article

Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency

article

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

scientific article published on 27 August 2011

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

scientific article published on 18 February 2012

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

scientific article (publication date: February 2002)

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

scientific article

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

scientific article published on 21 November 2005

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

scientific article

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

scientific article

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

scientific article published in September 1997

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

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

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

scientific article

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

scientific article published on 4 April 2014

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

scientific article published on 28 November 2016

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

Increased NO production in lysinuric protein intolerance

scientific article published in January 2005

List of works by Rosalba Carrozzo

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

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

Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation

Glutathione in blood of patients with Friedreich's ataxia.

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

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

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

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

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

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

Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders

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

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

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

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

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

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

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

Mutation analysis in 16 patients with mtDNA depletion.

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

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

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

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

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

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

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

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

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

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

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

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

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

'Behr syndrome' with OPA1 compound heterozygote mutations

Correlation between clinical and molecular features in two MELAS families

Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Increased NO production in lysinuric protein intolerance