Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Paola Ruffo"'
Autor:
Paolo Reho, Sara Saez-Atienzar, Paola Ruffo, Sultana Solaiman, Zalak Shah, Ruth Chia, Karri Kaivola, Bryan J. Traynor, Bension S. Tilley, Steve M. Gentleman, Angela K. Hodges, Dag Aarsland, Edwin S. Monuki, Kathy L. Newell, Randy Woltjer, Marilyn S. Albert, Ted M. Dawson, Liana S. Rosenthal, Juan C. Troncoso, Olga Pletnikova, Geidy E. Serrano, Thomas G. Beach, Hariharan P. Easwaran, Sonja W. Scholz
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-10 (2024)
Abstract Dementia with Lewy bodies (DLB) is a common form of dementia in the elderly population. We performed genome-wide DNA methylation mapping of cerebellar tissue from pathologically confirmed DLB cases and controls to study the epigenetic profil
Externí odkaz:
https://doaj.org/article/1f5a47a3a95d4835830f83e30874d417
Autor:
Benedetta Perrone, Paola Ruffo, Giuseppina Augimeri, Diego Sisci, Maria Stefania Sinicropi, Giovanni Tripepi, Corrado Mammì, Daniela Bonofiglio, Francesca Luisa Conforti
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-9 (2023)
Abstract Background The complex interplay between health, lifestyle and genetics represents a critical area of research for understanding and promoting human well-being. Importantly, genetics plays a key role in determining individual susceptibility
Externí odkaz:
https://doaj.org/article/49616ccee5af4b4481a9eb3520173b00
Publikováno v:
Cells, Vol 13, Iss 8, p 677 (2024)
The discovery of hexanucleotide repeats expansion (RE) in Chromosome 9 Open Reading frame 72 (C9orf72) as the major genetic cause of amyotrophic lateral sclerosis (ALS) and the association between intermediate repeats in Ataxin-2 (ATXN2) with the dis
Externí odkaz:
https://doaj.org/article/a1839d92063748a1b6a6b45e4f17ed9b
Publikováno v:
Neural Regeneration Research, Vol 18, Iss 6, Pp 1243-1248 (2023)
The growing and rapid development of high-throughput sequencing technologies have allowed a greater understanding of the mechanisms underlying gene expression regulation. Editing the epigenome and epitranscriptome directs the fate of the transcript i
Externí odkaz:
https://doaj.org/article/038915d3ad38474c8a73f2cae334050f
Autor:
Benedetta Perrone, Paola Ruffo, Samanta Zelasco, Cinzia Giordano, Catia Morelli, Ines Barone, Stefania Catalano, Sebastiano Andò, Diego Sisci, Giovanni Tripepi, Corrado Mammì, Daniela Bonofiglio, Francesca Luisa Conforti
Publikováno v:
Journal of Translational Medicine, Vol 20, Iss 1, Pp 1-12 (2022)
Abstract Background Plasma lipid profile and anthropometric variables are known to be under strong genetic control and the identification of genetic variants associated with bioclinical parameters is of considerable public health importance. In this
Externí odkaz:
https://doaj.org/article/b64efbc1a91d4b9e876c20db8ff21061
Publikováno v:
Biomolecules, Vol 13, Iss 4, p 706 (2023)
TDP-43 intracellular aggregates are a pathogenic sign of most amyotrophic lateral sclerosis (ALS) cases. Familial ALS, brought on by TARDBP gene mutations, emphasizes the relevance of this altered protein in pathophysiology. Growing evidence suggests
Externí odkaz:
https://doaj.org/article/2140b1df40634d61891cd9571df392be
Autor:
Claudia Strafella, Valerio Caputo, Andrea Termine, Carlo Fabrizio, Giulia Calvino, Domenica Megalizzi, Paola Ruffo, Elisa Toppi, Nerisa Banaj, Andrea Bassi, Paola Bossù, Carlo Caltagirone, Gianfranco Spalletta, Emiliano Giardina, Raffaella Cascella
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2022)
Amnestic mild cognitive impairment (aMCI) and sporadic Alzheimer’s disease (AD) are multifactorial conditions resulting from a complex crosstalk among multiple molecular and biological processes. The present study investigates the association of va
Externí odkaz:
https://doaj.org/article/c4a1a3dc4f284981ab5f2ec9e2bde4e9
Autor:
Paola Ruffo, Claudia Strafella, Raffaella Cascella, Valerio Caputo, Francesca Luisa Conforti, Sebastiano Andò, Emiliano Giardina
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Parallel and massive sequencing of total RNA samples derived from different samples are possible thanks to the use of NGS (Next Generation Sequencing) technologies. This allowed characterizing the transcriptomic profile of both cell and tissue popula
Externí odkaz:
https://doaj.org/article/e6e342a5f7794d8589e6003eee746bd6
Autor:
Claudia Strafella, Valerio Caputo, Andrea Termine, Carlo Fabrizio, Paola Ruffo, Saverio Potenza, Andrea Cusumano, Federico Ricci, Carlo Caltagirone, Emiliano Giardina, Raffaella Cascella
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Age-related macular degeneration (AMD) showed several processes and risk factors in common with neurodegenerative disorders (NDDs). The present work explored the existence of genetic determinants associated with AMD, which may provide insightful clue
Externí odkaz:
https://doaj.org/article/83ff4c03bb3141bfbbe4d194c25df01f
Publikováno v:
Journal of Personalized Medicine, Vol 12, Iss 5, p 758 (2022)
The “omics revolution” has totally changed the scientific research approach and is contributing to the development of personalized therapies. In motor neuron diseases (MNDs), a set of complex, multifactorial, late-onset and chronic neurodegenerat
Externí odkaz:
https://doaj.org/article/41df9b0daa8b4eae9a67992fe3cbd1f4