List of works - Giulia Tozzi

A Relative Deficiency of Lysosomal Acid Lypase Activity Characterizes Non-Alcoholic Fatty Liver Disease

scientific article

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

scientific article published on 15 July 2015

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

Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells

scientific article published on April 2016

All glutathione forms are depleted in blood of obese and type 1 diabetic children

Antioxidant enzymes in blood of patients with Friedreich's ataxia.

scientific article published on May 2002

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

scientific article

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

scientific journal article

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study

scientific article published on 21 July 2012

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect

scientific article published on 23 January 2007

Determination of blood total, reduced, and oxidized glutathione in pediatric subjects.

scientific article

Determination of glutathionyl-hemoglobin in human erythrocytes by cation-exchange high-performance liquid chromatography

scientific article published in January 2003

Determination of superoxide dismutase and glutathione peroxidase activities in blood of healthy pediatric subjects

scientific article published in August 2002

Does Lysosomial Acid Lipase Reduction Play a Role in Adult Non-Alcoholic Fatty Liver Disease?

scientific article

EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.

scientific article

Effect of protein glutathionylation on neuronal cytoskeleton: a potential link to neurodegeneration

scientific article published on 6 June 2011

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

scientific article

Emodin prevents intrahepatic fat accumulation, inflammation and redox status imbalance during diet-induced hepatosteatosis in rats

scientific article

Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia.

scientific article published on 11 August 2016

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

scientific article published on 4 April 2014

Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities.

scientific article published on 12 September 2009

GSSG-mediated Complex I defect in isolated cardiac mitochondria.

scientific article

Glutathione imbalance in patients with X-linked adrenoleukodystrophy ⬇️

scientific article published on May 22, 2013

Glutathione in blood of patients with Friedreich's ataxia.

scientific article published in November 2001

Glutathione metabolism and antioxidant enzymes in children with Down syndrome

scientific article published in May 2003

Glutathione metabolism and antioxidant enzymes in patients affected by nonalcoholic steatohepatitis

scientific article published in May 2005

Glutathione metabolism in cobalamin deficiency type C (cblC).

scientific article

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

scientific article

Glutathionylation of p65NF-kappaB correlates with proliferating/apoptotic hepatoma cells exposed to pro- and anti-oxidants

scientific article

Human mitochondrial transcription factor A reduction and mitochondrial dysfunction in Hashimoto's hypothyroid myopathy.

scientific article

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

scientific article

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

scientific article published on 22 October 2009

Lysosomal Acid Lipase Activity Is Reduced Both in Cryptogenic Cirrhosis and in Cirrhosis of Known Etiology.

scientific article

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

article

Myosin as a potential redox-sensor: an in vitro study.

scientific article

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

scientific article published on 18 October 2011

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

Platelet count may impact on lysosomal acid lipase activity determination in dried blood spot

scientific article published on 24 February 2017

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

Protein glutathionylation in cellular compartments: A constitutive redox signal

Protein glutathionylation in human central nervous system: potential role in redox regulation of neuronal defense against free radicals

scientific article published in February 2006

Protein glutathionylation increases in the liver of patients with non-alcoholic fatty liver disease

Redox homeostasis and posttranslational modifications/activity of phosphatase and tensin homolog in hepatocytes from rats with diet-induced hepatosteatosis

scientific article published on 30 March 2011

Reduced Lysosomal Acid Lipase Activity in Adult Patients With Non-alcoholic Fatty Liver Disease

scientific article

Reduced lysosomal acid lipase activity - A potential role in the pathogenesis of non alcoholic fatty liver disease in pediatric patients

scientific article

Respiratory chain defects in hereditary spastic paraplegias

article

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

scientific article published on 14 December 2012

Severe reduction of blood lysosomal acid lipase activity in cryptogenic cirrhosis: A nationwide multicentre cohort study

scientific article published on 31 March 2017

Simultaneous determination of ubiquinol and ubiquinone in skeletal muscle of pediatric patients

scientific article published on 7 March 2005

Spleen dimensions are inversely associated with lysosomal acid lipase activity in patients with non-alcoholic fatty liver disease.

scientific article published on 12 September 2017

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

scientific article published on 27 August 2011

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.

scientific article published on 14 September 2016

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations

scientific article

List of works by Giulia Tozzi

A Relative Deficiency of Lysosomal Acid Lypase Activity Characterizes Non-Alcoholic Fatty Liver Disease

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

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

Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells

All glutathione forms are depleted in blood of obese and type 1 diabetic children

Antioxidant enzymes in blood of patients with Friedreich's ataxia.

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

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect

Determination of blood total, reduced, and oxidized glutathione in pediatric subjects.

Determination of glutathionyl-hemoglobin in human erythrocytes by cation-exchange high-performance liquid chromatography

Determination of superoxide dismutase and glutathione peroxidase activities in blood of healthy pediatric subjects

Does Lysosomial Acid Lipase Reduction Play a Role in Adult Non-Alcoholic Fatty Liver Disease?

EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.

Effect of protein glutathionylation on neuronal cytoskeleton: a potential link to neurodegeneration

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

Emodin prevents intrahepatic fat accumulation, inflammation and redox status imbalance during diet-induced hepatosteatosis in rats

Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia.

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

Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities.

GSSG-mediated Complex I defect in isolated cardiac mitochondria.

Glutathione imbalance in patients with X-linked adrenoleukodystrophy ⬇️

Glutathione in blood of patients with Friedreich's ataxia.

Glutathione metabolism and antioxidant enzymes in children with Down syndrome

Glutathione metabolism and antioxidant enzymes in patients affected by nonalcoholic steatohepatitis

Glutathione metabolism in cobalamin deficiency type C (cblC).

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

Glutathionylation of p65NF-kappaB correlates with proliferating/apoptotic hepatoma cells exposed to pro- and anti-oxidants

Human mitochondrial transcription factor A reduction and mitochondrial dysfunction in Hashimoto's hypothyroid myopathy.

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

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

Lysosomal Acid Lipase Activity Is Reduced Both in Cryptogenic Cirrhosis and in Cirrhosis of Known Etiology.

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

Myosin as a potential redox-sensor: an in vitro study.

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

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

OXPHOS and mtDNA alterations in a family with spastic paraparesis

Platelet count may impact on lysosomal acid lipase activity determination in dried blood spot

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

Protein glutathionylation in cellular compartments: A constitutive redox signal

Protein glutathionylation in human central nervous system: potential role in redox regulation of neuronal defense against free radicals

Protein glutathionylation increases in the liver of patients with non-alcoholic fatty liver disease

Redox homeostasis and posttranslational modifications/activity of phosphatase and tensin homolog in hepatocytes from rats with diet-induced hepatosteatosis

Reduced Lysosomal Acid Lipase Activity in Adult Patients With Non-alcoholic Fatty Liver Disease

Reduced lysosomal acid lipase activity - A potential role in the pathogenesis of non alcoholic fatty liver disease in pediatric patients

Respiratory chain defects in hereditary spastic paraplegias

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

Severe reduction of blood lysosomal acid lipase activity in cryptogenic cirrhosis: A nationwide multicentre cohort study

Simultaneous determination of ubiquinol and ubiquinone in skeletal muscle of pediatric patients

Spleen dimensions are inversely associated with lysosomal acid lipase activity in patients with non-alcoholic fatty liver disease.

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

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations