Marzia Bianchi

ORCID: 0000-0003-2672-0754
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About
Contact & Profiles
Research Areas
  • Polyamine Metabolism and Applications
  • Mitochondrial Function and Pathology
  • Amino Acid Enzymes and Metabolism
  • Lysosomal Storage Disorders Research
  • ATP Synthase and ATPases Research
  • Metabolism and Genetic Disorders
  • Liver Disease Diagnosis and Treatment
  • Cellular transport and secretion
  • Signaling Pathways in Disease
  • Glycosylation and Glycoproteins Research
  • Cardiac, Anesthesia and Surgical Outcomes
  • Birth, Development, and Health
  • Porphyrin Metabolism and Disorders
  • Galectins and Cancer Biology
  • Cannabis and Cannabinoid Research
  • Muscle Physiology and Disorders
  • Diet, Metabolism, and Disease
  • Genetic Associations and Epidemiology
  • Neuroscience and Neuropharmacology Research
  • Liver Diseases and Immunity
  • Telomeres, Telomerase, and Senescence
  • Hereditary Neurological Disorders
  • Gastrointestinal motility and disorders
  • Neurological diseases and metabolism
  • Endoplasmic Reticulum Stress and Disease

Bambino Gesù Children's Hospital
2016-2025

Istituti di Ricovero e Cura a Carattere Scientifico
2009-2025

University of Zulia
2020

Sapienza University of Rome
2017-2018

University of Verona
2015-2017

Roma Tre University
2004-2008

National Agency for New Technologies, Energy and Sustainable Economic Development
2007

Università Cattolica del Sacro Cuore
2003

Institute of Chemistry of Molecular Recognition
2003

Non-alcoholic fatty liver disease (NAFLD)-related fibrosis results in the encapsulation of injured parenchyma by a collagenous scar mainly imputable to hepatic stellate cells' activation. Approved pharmacological treatments against NAFLD-related are still lacking, but natural compounds such as hydroxytyrosol (HXT) and vitamin E (VitE), emerging promising therapeutic opportunities. In this study, potential anti-fibrotic effect HXT + VitE combination therapy was investigated vitro vivo....

10.3390/nu14183791 article EN Nutrients 2022-09-14

The neuronal ceroid lipofuscinoses (NCL) are a group of genetically heterogeneous neurodegenerative disorders. recent identification the MFSD8/CLN7 gene in variant-late infantile form NCL (v-LINCL) affected children from Turkey prompted us to examine relative frequency variants this Italian patients with v-LINCL. We identified nine harboring 11 different mutations MFSD8/CLN7. Ten were novel and included three nonsense (p.Arg35Stop, p.Glu381Stop, p.Arg482Stop), four missense (p.Met1Thr,...

10.1002/humu.20975 article EN Human Mutation 2009-01-28

Skeletal muscle exhibits a high regenerative capacity, mainly due to the ability of satellite cells replicate and differentiate in response appropriate stimuli. Epigenetic control is effective at different stages this process. It has been shown that chromatin-remodeling factor HDAC4 able regulate cell proliferation commitment. However, its molecular targets are still uncovered. To explain signaling pathways regulated by cells, we generated tamoxifen-inducible mice with conditional...

10.1038/s41598-018-21835-7 article EN cc-by Scientific Reports 2018-02-16

DJ ‐1 mutations are associated to early‐onset Parkinson's disease and accounts for about 1–2% of the genetic forms. The protein is involved in many biological processes its role mitochondrial regulation gaining great interest, even if function mitochondria still unclear. We describe a 47‐year‐old woman affected by multisystem disorder characterized progressive, parkinsonism plus distal spinal amyotrophy, cataracts sensory‐neural deafness with novel homozygous c. 461C >A [p. T154K ]...

10.1111/cge.12841 article EN Clinical Genetics 2016-07-27

Major adverse cardiovascular events are closely associated with 24-hour blood pressure (BP). We determined outcome-driven thresholds for mean arterial (MAP), a BP index estimated by oscillometric devices. assessed the association of major MAP, systolic (SBP), and diastolic (DBP) in population-based cohort (n=11 596). Statistics included multivariable Cox regression generalized R

10.1161/hypertensionaha.120.14929 article EN cc-by-nc-nd Hypertension 2020-12-09

Background/Objectives: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a growing global health problem and the discovery of drugs challenging. In this study, we aimed to investigate effects intestinal activation X receptor (LXR)α on MASH. Methods: An intestinal-specific LXRα model in mice was established subjected MASH development by combining Western diet carbon tetrachloride. Lipid metabolism, reverse cholesterol transport (RCT), steatosis, inflammation, fibrosis were...

10.3390/nu17081349 article EN Nutrients 2025-04-15

Polyamine oxidase (PAO) and spermine (SMO) are involved in the catabolism of polyamines--basic regulators cell growth proliferation. The discovery selective inhibitors PAO SMO represents an important tool studying involvement these enzymes polyamine homeostasis a starting point for development novel antineoplastic drugs. Here, comparative study on murine (mPAO) (mSMO) inhibition by analogues 1,8-diaminooctane, 1,12-diaminododecane, N-prenylagmatine (G3), guazatine...

10.1111/j.1742-4658.2006.05137.x article EN FEBS Journal 2006-02-23

Spermine oxidase (SMO) is a flavoenzyme involved in polyamine homeostasis animal cells. The mouse spermine gene (mSMO) codes for splice variants, including the previously reported major active isoform, herein named alfa (alpha). In present work, eight additional splicing variants were characterized. heterologous expression and biochemical characterization of three recombinant isoforms (namely mSMOmu, -gamma -delta) revealed that only protein mSMO micro displays characteristics similar to...

10.1111/j.1432-1033.2004.03979.x article EN European Journal of Biochemistry 2004-01-30

A healthy diet during pregnancy is pivotal for the offspring health at birth and later in life. N-3 polyunsaturated fatty acids (n-3 PUFAs) are not endogenously produced humans exclusively derived from diet. They fetus growth neuronal development seem beneficial reducing risk of cardiometabolic diseases preventing allergic disorders by modulating inflammatory immune response. In present study, we investigated association between maternal intakes n-3PUFAs, profiled on erythrocyte membranes...

10.3389/fgene.2019.01050 article EN cc-by Frontiers in Genetics 2019-10-25

NDUFB11, a component of mitochondrial complex I, is relatively small integral membrane protein, belonging to the "supernumerary" group subunits, but proved be absolutely essential for assembly an active I. Mutations in X-linked nuclear-encoded NDUFB11 gene have recently been discovered association with two distinct phenotypes, i.e. microphthalmia linear skin defects and histiocytoid cardiomyopathy. We report on male I deficiency, caused by de novo mutation displaying early-onset...

10.1111/cge.12790 article EN Clinical Genetics 2016-04-22

The SARS-CoV-2 pandemic has caused approximately 6.3 million deaths, mainly due to the acute respiratory distress syndrome or multi-organ failure that characterizes COVID-19 disease. Post-acute syndrome, also known as long-COVID, is a condition characterized by complex of symptoms affects 10–20% individuals who have recovered from infection. Scientific and clinical evidence demonstrates long-COVID can develop in both adults children. It been hypothesized effects could be associated with...

10.3390/antiox11081466 article EN cc-by Antioxidants 2022-07-27

Polyamine oxidases (PAOs, EC 1.5.3.11) are key enzymes responsible for the terminal catabolism of polyamines in plants, bacteria and protozoa. In barley, two PAO isoforms (HvPAO1 HvPAO2) have been previously analyzed as regards their tissue expression subcellular localization. Only major isoform HvPAO2 has biochemically characterized up to now. order study ear‐specific HvPAO1 detail, RT‐PCR analysis was performed barley on whole ear various tissues. Moreover, HvPAO 1promoter:: GUS transient...

10.1111/j.1742-4658.2006.05402.x article EN FEBS Journal 2006-07-31

During pregnancy, the balance between pro-inflammatory and anti-inflammatory responses is essential for ensuring healthy outcomes. Dietary Fatty acids may modulate inflammation.We investigated association dietary fatty as profiled on red blood cells membranes a few pro- cytokines, including adipokines leptin adiponectin at ~38 weeks in 250 women.We found number of associations, including, but not limited to those with C22:3/C22:4 (coeff -1.44; p = 0.008), C18:1 c13/c14 1.4; 0.02); endotoxin...

10.3390/nu15112432 article EN Nutrients 2023-05-23
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