A5035551134- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Neuroscience and Neuropharmacology Research
- Amino Acid Enzymes and Metabolism
- Diet and metabolism studies
- Alcoholism and Thiamine Deficiency
- Peroxisome Proliferator-Activated Receptors
- Folate and B Vitamins Research
- Adipose Tissue and Metabolism
- Biochemical effects in animals
- Metabolomics and Mass Spectrometry Studies
- Biochemical Acid Research Studies
- Sulfur Compounds in Biology
- Tryptophan and brain disorders
- Antioxidant Activity and Oxidative Stress
- RNA regulation and disease
- Genetic Neurodegenerative Diseases
- Infectious Encephalopathies and Encephalitis
- Retinoids in leukemia and cellular processes
- Biochemical and Molecular Research
- Gout, Hyperuricemia, Uric Acid
- ATP Synthase and ATPases Research
- Metalloenzymes and iron-sulfur proteins
- Genomics, phytochemicals, and oxidative stress
- Coenzyme Q10 studies and effects
University of Pittsburgh
2022-2024
Universidade Federal do Rio Grande do Sul
2014-2023
University of Pittsburgh Medical Center
2018-2019
Universidade Federal do Rio Grande
2007-2011
Universidade Federal de Ciências da Saúde de Porto Alegre
2008-2009
Patients affected by maple syrup urine disease (MSUD) present severe neurological symptoms and brain abnormalities, whose pathophysiology is poorly known. In the study we investigated in vitro effects of leucine (Leu), alpha-ketoisocaproic acid (KIC) alpha-hydroxyisovaleric (HIV), respectively, branched-chain amino, keto hydroxy acids that most accumulate MSUD, on bioenergetic homeostasis, evaluating respiratory parameters obtained oxygen consumption, membrane potential (Psim), NAD(P)H...
Mitochondrial complex I (CI) deficiency is the most frequent cause of oxidative phosphorylation (OXPHOS) disorders in humans. In order to benchmark effects CI on mitochondrial bioenergetics and dynamics, respiratory chain (RC) endoplasmic reticulum (ER)-mitochondria communication, superoxide production, fibroblasts from patients with mutations ND6, NDUFV1 or ACAD9 genes were analyzed. Fatty acid metabolism, basal maximal respiration, membrane potential, ATP levels decreased. Changes proteins...
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is the most common defect of mitochondrial fatty acid β-oxidation. Patients present with heterogeneous clinical phenotypes affecting heart, liver and skeletal muscle predominantly. The full pathophysiology disease unclear patient response to current therapeutic regimens incomplete. To identify additional cellular alterations explore more effective therapies, bioenergetics redox homeostasis were assessed in VLCAD-deficient fibroblasts,...
Abstract Ethylmalonic encephalopathy protein 1 (ETHE1) and molybdenum cofactor (MoCo) deficiencies are hereditary disorders that affect the catabolism of sulfur-containing amino acids. ETHE1 deficiency is caused by mutations in gene, while MoCo due to one three genes involved biosynthesis ( MOCS1 , MOCS2 GPHN ). Patients with both exhibit abnormalities mitochondrial respiratory chain, among other biochemical findings. However, pathophysiology defects has not been elucidated. To characterize...
In the present work we investigated in vitro effects of phytanic acid (Phyt), that accumulates Refsum disease and other peroxisomal diseases, on important parameters oxidative stress cerebellum cerebral cortex from young rats.The thiobarbituric acid-reactive substances levels (TBA-RS; lipid peroxidation), carbonyl formation sulfhydryl oxidation (protein damage) concentrations most nonenzymatic antioxidant defense reduced glutathione (GSH) were determined.It was observed Phyt significantly...
Abstract In the present work we investigated in vitro effect of 3‐hydroxy‐3‐methylglutarate (HMG) that accumulates 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency (HMGLD) on important parameters oxidative stress rat cerebral cortex. It was observed HMG induced lipid peroxidation by significantly increasing chemiluminescence and levels thiobarbituric acid‐reactive substances (TBA‐RS). This prevented antioxidants α‐tocopherol, melatonin, N‐acetylcysteine, superoxide dismutase plus catalase,...
3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a disorder biochemically characterized by the predominant accumulation of 3-hydroxy-3-methylglutarate (HMG), 3-methylglutarate (MGA), 3-methylglutaconate and 3-hydroxyisovalerate in tissues biological fluids affected patients. Neurological symptoms hepatopathy are commonly found HL deficiency, especially during metabolic crises. Since mechanisms tissue damage this not well understood, present study we evaluated ex vivo effects acute...
We determined mRNA expression of the ionotropic glutamate receptors NMDA (NR1, NR2A and NR2B subunits), AMPA (GluR2 subunit) kainate (GluR6 subunit), as well transporters GLAST GLT1 in cerebral cortex striatum wild type (WT) glutaryl-CoA dehydrogenase deficient (Gchh-/-) mice aged 7, 30 60 days. The protein levels some these membrane proteins were also measured. Overexpression GluR2 GluR6 was observed 7-day-old Gcdh-/-. There an increase all subunits 30-day-old Gcdh-/- mice. At days life,...