Gabriella Fernandes‐Pires

ORCID: 0000-0001-6045-0749
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About
Contact & Profiles
Research Areas
  • Muscle metabolism and nutrition
  • Metabolism and Genetic Disorders
  • Muscle Physiology and Disorders
  • Diet and metabolism studies
  • Connexins and lens biology
  • Genetic Neurodegenerative Diseases
  • Heat shock proteins research
  • Biochemical and Molecular Research
  • Developmental Biology and Gene Regulation
  • Hearing, Cochlea, Tinnitus, Genetics
  • Genetics and Physical Performance
  • Radiation Dose and Imaging
  • Yersinia bacterium, plague, ectoparasites research
  • Marine animal studies overview

University of Lausanne
2020-2024

University Hospital of Lausanne
2020-2021

University of Bern
2019-2021

University Hospital of Basel
2019

University Hospital of Zurich
2019

University Hospital of Bern
2019

University Children's Hospital Zurich
2019

Abstract Creatine is an organic compound used as fast phosphate energy buffer to recycle ATP, important in tissues with high demand such muscle or brain. taken from the diet endogenously synthetized by enzymes AGAT and GAMT, specifically up transporter SLC6A8. Deficit endogenous synthesis transport leads Cerebral Deficiency Syndromes (CCDS). CCDS are characterized brain creatine deficiency, intellectual disability severe speech delay, behavioral troubles attention deficits and/or autistic...

10.1038/s41598-020-80824-x article EN cc-by Scientific Reports 2021-01-15

Abstract Creatine (Cr) is a nitrogenous organic acid and plays roles such as fast phosphate energy buffer to replenish ATP, osmolyte, antioxidant, neuromodulator, compound with anabolic ergogenic properties in muscle. Cr taken from the diet or endogenously synthetized by enzymes arginine:glycine amidinotransferase guanidinoacetate methyltransferase, specifically up transporter SLC6A8. Loss‐of‐function mutations genes encoding for cause creatine deficiency syndromes (CDS). CDS are...

10.1002/jimd.12470 article EN cc-by-nc Journal of Inherited Metabolic Disease 2021-12-22

Sensorineural hearing loss is prevalent within society affecting the quality of life 460 million worldwide. In majority cases, this due to insult or degeneration mechanosensory hair cells in cochlea. adult mammals, cell irreversible as sensory are not replaced spontaneously. Genetic inhibition Notch signaling had been shown induce formation by transdifferentiation supporting young postnatal rodents and provided an impetus for targeting pathway with small molecule inhibitors restoration....

10.3389/fcell.2021.710159 article EN cc-by Frontiers in Cell and Developmental Biology 2021-08-13

Sensorineural hearing loss is the most common long-term deficit after pneumococcal meningitis (PM), occurring in up to 30% of surviving patients. The infection and following overshooting inflammatory host response damage vulnerable sensory cells inner ear, resulting hair spiral ganglion neurons, ultimately leading elevated thresholds. Here, we tested oto-protective properties small heat shock protein alpha B-crystallin (HspB5) with previously reported anti-inflammatory, anti-apoptotic...

10.3389/fneur.2019.00570 article EN cc-by Frontiers in Neurology 2019-06-10

An analytical method for the quantification of four beta-lactam antibiotics (amoxicillin, flucloxacillin, piperacillin, and benzylpenicillin), two beta-lactamase inhibitors (clavulanic acid tazobactam) as well macrolide antibiotic clindamycin in different matrices is presented.The uses 2D high performance liquid chromatography followed by tandem mass spectrometry.Sample preparation all was protein precipitation dilution.As internal standards, deuterated forms beta-lactams were used.All...

10.1515/cclm-2019-0735 article EN Clinical Chemistry and Laboratory Medicine (CCLM) 2019-08-02

ABSTRACT Creatine is an organic compound used as fast phosphate energy buffer to recycle ATP, important in tissues with high demand such muscle or brain. taken from the diet endogenously synthetized by enzymes AGAT and GAMT, specifically up transporter SLC6A8. Deficit endogenous synthesis transport leads Cerebral Deficiency Syndromes (CCDS). CCDS are characterized brain creatine deficiency, intellectual disability severe speech delay, behavioral troubles attention deficits and/or autistic...

10.1101/2020.08.11.246330 preprint EN cc-by-nc-nd bioRxiv (Cold Spring Harbor Laboratory) 2020-08-12

ABSTRACT Creatine (Cr) is a nitrogenous organic acid and plays roles as fast phosphate energy buffer to replenish ATP, osmolyte, antioxidant, neuromodulator, compound with anabolic ergogenic properties in muscle. Cr taken from the diet or endogenously synthetized by enzymes AGAT GAMT, specifically up transporter SLC6A8. Loss-of-function mutations genes encoding for cause Cerebral Deficiency Syndromes (CCDS). CCDS are characterized brain deficiency, intellectual disability severe speech...

10.1101/2021.10.12.464080 preprint EN cc-by-nc-nd bioRxiv (Cold Spring Harbor Laboratory) 2021-10-14
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