A5054825458- Metabolism and Genetic Disorders
- Folate and B Vitamins Research
- Biochemical and Molecular Research
- Ion channel regulation and function
- Diet and metabolism studies
- Child Nutrition and Feeding Issues
- Climate variability and models
- Mitochondrial Function and Pathology
- Blood disorders and treatments
- RNA regulation and disease
- Pharmacological Effects and Toxicity Studies
- Genetics and Neurodevelopmental Disorders
- Pancreatic function and diabetes
- Amino Acid Enzymes and Metabolism
- Tryptophan and brain disorders
- Neonatal Health and Biochemistry
- Autism Spectrum Disorder Research
- Adipose Tissue and Metabolism
Sapienza University of Rome
2017-2025
Policlinico Umberto I
2017-2025
Institute of Atmospheric Sciences and Climate
2020
National Research Council
2020
University of Bologna
2020
Brain monoamine depletion is a well-established biochemical consequence of phenylketonuria (PKU). Similar alterations are expected in the peripheral biogenic amines (PBA), which share same metabolic pathway with brain. The present cross-sectional study explored potential prognostic value PBA by examining their relationship blood Phe and clinical outcomes early-treated adult PKU patients (ETPKU). 53 ETPKU (age 27.14 ± 8.22 years; 35 female) 60 age-matched control subjects 43 13 were enrolled...
Methylmalonic acidaemia with homocystinuria type C (cblC defect) is an inherited error of cobalamin metabolism. Cobalamin deficient processing results in high levels methylmalonic acid and homocysteine. The latter considered to be a risk factor for multiple sclerosis (MS). We report on the first case patient comorbid cblC defect MS. This young male presented at age 14 relapsing-remitting neurological disorder associated imaging alterations suggestive Treatment resulted partial clinical...
Here we report, for the first time, engineering of human red blood cells (RBCs) with an entire metabolic pathway as a potential strategy to treat patients guanidinoacetate methyltransferase (GAMT) deficiency, capable reducing high toxic levels acid (GAA) and restoring proper creatine in tissues. We produced recombinant form native GAMT without any tags encapsulate into RBCs. Due poor solubility stability features enzyme, both bioinformatics studies extensive optimization work were performed...
<pre>Understanding how the general circulation of atmosphere is affected by global warming one grand challenges in climate science. Climate models are a valuable tool to: i) identifying potential mechanism for changes circulation, ii) recognizing signals that can be related to external forcing and iii) produce projections future scenarios. Despite use large ensemble continuosly improving models, uncertainty extratropical still large. It therefore important understand processes...