A5039411173- Mitochondrial Function and Pathology
- ATP Synthase and ATPases Research
- Cellular transport and secretion
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Testicular diseases and treatments
- 3D Printing in Biomedical Research
- Coenzyme Q10 studies and effects
- Electron Spin Resonance Studies
- Ion channel regulation and function
- Pregnancy-related medical research
- Retinal Development and Disorders
- Animal Genetics and Reproduction
- Photosynthetic Processes and Mechanisms
- Photoreceptor and optogenetics research
- Drug-Induced Ocular Toxicity
- Metabolism and Genetic Disorders
- Pluripotent Stem Cells Research
- Wnt/β-catenin signaling in development and cancer
- Sperm and Testicular Function
Fondazione IRCCS Istituto Neurologico Carlo Besta
2024
University of Bologna
2024
University of Campania "Luigi Vanvitelli"
2018-2020
University of Naples Federico II
2018
Idebenone, the only approved treatment for Leber hereditary optic neuropathy (LHON), promotes recovery of visual function in up to 50% patients, but we can neither predict nor understand non-responders. Idebenone is reduced by cytosolic NAD(P)H oxidoreductase I (NQO1) and directly shuttles electrons respiratory complex III, bypassing affected LHON. We show here that two polymorphic variants drastically reduce NQO1 protein levels when homozygous or compound heterozygous. This hampers...
During differentiation of the male gamete, there is a massive remodelling in shape and architecture all cells seminiferous epithelium. The cytoskeleton, as well many associated proteins, plays pivotal role this process. To better characterise factors involved, we analysed two proteins: formin, dishevelled-associated activator morphogenesis 1 (DAAM1), which participates regulation actin polymerisation, protease, prolyl endopeptidase (PREP), engaged microtubule-associated processes. In our...
Leber hereditary optic neuropathy (LHON) is one of the most common mitochondrial illness, causing retinal ganglion cell degeneration and central vision loss. It stems from point mutations in DNA (mtDNA), with key being m.3460G > A, m.11778G m.14484 T C. Fibroblasts identical twins, sharing C m.10680G A variants each 70 % heteroplasmy, were used to generate iPSC lines. Remarkably, twin, a LHON patient, displayed symptoms, while other, carrier, remained asymptomatic. These iPSCs offer valuable...
Here, we present a protocol describing the quantification of oxygen consumption rate (OCR) and maximal respiration (MRR) in living induced pluripotent stem cell (iPSC)-derived neurons using Seahorse analyzer. We guide you through whole process: culture amplification seeding neural progenitor cells (NPCs), their differentiation into neurons, normalization results to number analytical phase. The assessment cellular mitochondrial function, by analyzing respiration, could be useful various...
Abstract Relaxin (RLN) and insulin (INSL)‐like peptides are member of the INSL/RLN superfamily, which encoded by seven genes in humans can activate G‐protein coupled receptor RXFP 1–4. These evolved from a common ancestor, RLN3‐like gene. Two rounds whole genome duplication (WGD) early vertebrate evolution, together with an additional WGD teleost lineage, caused expansion RLN set Danio rerio . In particular, six present: single copy rln insl3 genes, two paralogs for rln3 gene ( b), insl5 b)....
Idebenone is the only approved treatment for Leber's hereditary optic neuropathy (LHON). It promotes recovery of visual function in up to 50% patients, but, based on current knowledge, we can neither predict nor understand non‐responders. reduced by cytosolic NAD(P)H oxidoreductase I (NQO1) and directly shuttles electrons respiratory complex III, bypassing affected LHON. We explored possibility that genetic variant NQO1 enzyme impact idebenone response. found two polymorphic variants...