Lista de obras - Fiorella Piemonte - Dominio Público Uruguay

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

artículo científico

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

artículo científico publicado en 2000

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

artículo científico publicado en 2016

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

artículo científico publicado en 2003

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

artículo científico publicado en 2016

Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy

artículo científico publicado en 2015

Aggregation of pyrene-labeled microsomal glutathione S-transferase. Effect of concentration

artículo científico publicado en 1993

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

Alternative splicing of human plasma cholesteryl ester transfer protein mRNA in Caco-2 cells and its modulation by oleic acid

artículo científico publicado el 1 de diciembre de 1997

Analysis of glutathione: implication in redox and detoxification

artículo científico publicado en 2003

Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells

artículo científico publicado en 2020

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

artículo científico publicado en 2002

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

artículo científico publicado en 2009

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

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

scientific journal article

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

artículo científico publicado en 2012

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

artículo científico publicado en 2007

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

artículo científico publicado en 2007

Collapsing glomerulopathy associated with inherited mitochondrial injury

Colorimetric and Fluorometric Assays of Glutathione Transferase Based on 7-Chloro-4-nitrobenzo-2-oxa-1,3-diazole

artículo científico publicado en 1994

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

scientific article published on 07 July 2020

Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles

artículo científico publicado en 2001

Cytoskeletal dynamics during in vitro neurogenesis of induced pluripotent stem cells (iPSCs).

artículo científico publicado en 2016

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

artículo científico publicado en 2016

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

artículo científico publicado en 2003

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

artículo científico publicado en 2002

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Effect of vitamin E on aminotransferase levels and insulin resistance in children with non-alcoholic fatty liver disease

artículo científico publicado en 2006

Effects of Clostridium Difficile toxins A and B on cytoskeleton organization in HEp-2 cells: A comparative morphological study

artículo científico publicado en 1989

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Endotoxin and plasminogen activator inhibitor-1 serum levels associated with nonalcoholic steatohepatitis in children

artículo científico publicado en 2010

Ferroptosis in Friedreich's Ataxia: A Metal-Induced Neurodegenerative Disease

artículo científico publicado en 2020

Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities.

artículo científico publicado en 2009

Glutathione imbalance in patients with X-linked adrenoleukodystrophy ⬇️

artículo científico publicado el 22 de mayo de 2013

Glutathione in blood of patients with Friedreich's ataxia.

artículo científico publicado en 2001

Glutathione metabolism and antioxidant enzymes in children with Down syndrome

artículo científico publicado en 2003

Glutathione metabolism and antioxidant enzymes in patients affected by nonalcoholic steatohepatitis

artículo científico publicado en 2005

Glutathione metabolism in cobalamin deficiency type C (cblC).

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

High concentrations of H2O2 trigger hypertrophic cascade and phosphatase and tensin homologue (PTEN) glutathionylation in H9c2 cardiomyocytes

artículo científico publicado en 2016

Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation

artículo científico publicado en 2002

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Impaired activity of the gamma-glutamyl cycle in nephropathic cystinosis fibroblasts

artículo científico publicado en 2006

Infantile mitochondrial disorders

artículo científico publicado en 2007

Interaction of hemin with placental glutathione transferase

artículo científico publicado en 1990

Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.

artículo científico publicado en 2011

Intracellular distribution of glutathionylated proteins in cultured dermal fibroblasts by immunofluorescence

artículo científico publicado en 2015

Investigation of the active site of human placenta glutathione transferase π by means of a spin-labelled glutathione analogue

scientific article published on 01 August 1992

Kinetic studies on rat liver microsomal glutathione transferase: consequences of activation

artículo científico publicado en 1995

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Leptin, free leptin index, insulin resistance and liver fibrosis in children with non-alcoholic fatty liver disease.

artículo científico publicado en 2006

Lifestyle intervention and antioxidant therapy in children with nonalcoholic fatty liver disease: a randomized, controlled trial

artículo científico publicado en 2008

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

artículo científico publicado en 2016

Microsomal glutathione transferase: Lipid-derived substrates and lipid dependence

artículo científico publicado en 1995

Mirnome analysis reveals novel molecular determinants in the pathogenesis of diet-induced nonalcoholic fatty liver disease

artículo científico publicado en 2010

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

artículo científico publicado en 2008

NAFLD in children: a prospective clinical-pathological study and effect of lifestyle advice

artículo científico publicado en 2006

Neuroprotection: the emerging concept of restorative neural stem cell biology for the treatment of neurodegenerative diseases

artículo científico

Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis

artículo científico publicado en 2006

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich's Ataxia

artículo científico publicado en 2017

Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement

artículo científico publicado en 2020

Oxidative abnormalities in Menkes disease

artículo científico publicado en 2000

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway.

artículo científico publicado en 2017

Pediatric reference intervals for muscle coenzyme Q(10).

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

Protein glutathionylation in cardiovascular diseases

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs

artículo científico publicado en 2015

Rapid determination of mycophenolic acid in plasma by reversed-phase high-performance liquid chromatography

artículo científico publicado en 2002

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Regulation of acyl CoA: cholesterol acyl transferase (ACAT) activity by mevalonate and cholesterol in isolated rat hepatocytes during perinatal development

artículo científico publicado en 1986

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

S-Glutathionylation signaling in cell biology: Progress and prospects ⬇️

artículo científico publicado el 30 de marzo de 2012

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

artículo científico publicado en 2007

Serum uric acid in Friedreich Ataxia

artículo científico publicado en 2018

Short term regulation of acyl CoA: Cholesterol acyl transferase (ACAT) activity in the regenerating and perinatal liver

artículo científico publicado en 1985

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

artículo científico publicado en 2005

Susceptibility of isolated myofibrils to in vitro glutathionylation: Potential relevance to muscle functions

artículo científico publicado en 2010

Systemic Redox Biomarkers in Neurodegenerative Diseases

artículo científico

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

artículo científico publicado en 2012

The NRF2 Signaling Network Defines Clinical Biomarkers and Therapeutic Opportunity in Friedreich's Ataxia

scientific article published on 30 January 2020

The cytoskeletal arrangements necessary to neurogenesis

artículo científico publicado en 2016

The effects of pregnancy steroids on adaptation of beta cells to pregnancy involve the pancreatic glucose sensor glucokinase

artículo científico publicado en 1997

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

artículo científico publicado en 2011

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations

artículo científico publicado en 2009

Waist circumference correlates with liver fibrosis in children with non-alcoholic steatohepatitis

artículo científico publicado en 2008

Lista de obras de Fiorella Piemonte

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 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

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

Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy

Aggregation of pyrene-labeled microsomal glutathione S-transferase. Effect of concentration

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

Alternative splicing of human plasma cholesteryl ester transfer protein mRNA in Caco-2 cells and its modulation by oleic acid

Analysis of glutathione: implication in redox and detoxification

Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells

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

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

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

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

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

Collapsing glomerulopathy associated with inherited mitochondrial injury

Colorimetric and Fluorometric Assays of Glutathione Transferase Based on 7-Chloro-4-nitrobenzo-2-oxa-1,3-diazole

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles

Cytoskeletal dynamics during in vitro neurogenesis of induced pluripotent stem cells (iPSCs).

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

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

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

Effect of vitamin E on aminotransferase levels and insulin resistance in children with non-alcoholic fatty liver disease

Effects of Clostridium Difficile toxins A and B on cytoskeleton organization in HEp-2 cells: A comparative morphological study

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

Endotoxin and plasminogen activator inhibitor-1 serum levels associated with nonalcoholic steatohepatitis in children

Ferroptosis in Friedreich's Ataxia: A Metal-Induced Neurodegenerative Disease

Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons

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.

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

High concentrations of H2O2 trigger hypertrophic cascade and phosphatase and tensin homologue (PTEN) glutathionylation in H9c2 cardiomyocytes

Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation

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

Impaired activity of the gamma-glutamyl cycle in nephropathic cystinosis fibroblasts

Infantile mitochondrial disorders

Interaction of hemin with placental glutathione transferase

Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.

Intracellular distribution of glutathionylated proteins in cultured dermal fibroblasts by immunofluorescence

Investigation of the active site of human placenta glutathione transferase π by means of a spin-labelled glutathione analogue

Kinetic studies on rat liver microsomal glutathione transferase: consequences of activation

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

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

Leptin, free leptin index, insulin resistance and liver fibrosis in children with non-alcoholic fatty liver disease.

Lifestyle intervention and antioxidant therapy in children with nonalcoholic fatty liver disease: a randomized, controlled trial

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

Microsomal glutathione transferase: Lipid-derived substrates and lipid dependence

Mirnome analysis reveals novel molecular determinants in the pathogenesis of diet-induced nonalcoholic fatty liver disease

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

NAFLD in children: a prospective clinical-pathological study and effect of lifestyle advice

Neuroprotection: the emerging concept of restorative neural stem cell biology for the treatment of neurodegenerative diseases

Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis

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.

Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich's Ataxia

Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement

Oxidative abnormalities in Menkes disease

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway.

Pediatric reference intervals for muscle coenzyme Q(10).

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

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

Protein glutathionylation in cardiovascular diseases

Protein glutathionylation in cellular compartments: A constitutive redox signal