Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Anna Cozzi"'
Autor:
Paolo Santambrogio, Anna Cozzi, Chiara Balestrucci, Maddalena Ripamonti, Valeria Berno, Eugenia Cammarota, Andrea Stefano Moro, Sonia Levi
Publikováno v:
Cell Death and Disease, Vol 15, Iss 5, Pp 1-10 (2024)
Abstract Disease models of neurodegeneration with brain iron accumulation (NBIA) offer the possibility to explore the relationship between iron dyshomeostasis and neurodegeneration. We analyzed hiPS-derived astrocytes from PANK2-associated neurodegen
Externí odkaz:
https://doaj.org/article/ac292067ea3c4ea49e49855dddee3311
Autor:
Paolo Santambrogio, Maddalena Ripamonti, Anna Cozzi, Marzia Raimondi, Chiara Cavestro, Ivano Di Meo, Alicia Rubio, Stefano Taverna, Valeria Tiranti, Sonia Levi
Publikováno v:
Cell Death and Disease, Vol 13, Iss 2, Pp 1-12 (2022)
Abstract Neurodegeneration associated with defective pantothenate kinase-2 (PKAN) is an early-onset monogenic autosomal-recessive disorder. The hallmark of the disease is the massive accumulation of iron in the globus pallidus brain region of patient
Externí odkaz:
https://doaj.org/article/7980b3f04e944f7d8ac44cb339971253
Autor:
Maddalena Ripamonti, Paolo Santambrogio, Gabriella Racchetti, Anna Cozzi, Ivano Di Meo, Valeria Tiranti, Sonia Levi
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 16 (2022)
PKAN disease is caused by mutations in the PANK2 gene, encoding the mitochondrial enzyme pantothenate kinase 2, catalyzing the first and key reaction in Coenzyme A (CoA) biosynthetic process. This disorder is characterized by progressive neurodegener
Externí odkaz:
https://doaj.org/article/342ff498975646968aa60d283f939dc2
Autor:
Paolo Santambrogio, Anna Cozzi, Ivano Di Meo, Chiara Cavestro, Cristina Vergara, Laura Rodríguez-Pascau, Marc Martinell, Pilar Pizcueta, Valeria Tiranti, Sonia Levi
Publikováno v:
Pharmaceutics, Vol 15, Iss 1, p 202 (2023)
The novel brain-penetrant peroxisome proliferator-activated receptor gamma agonist leriglitazone, previously validated for other rare neurodegenerative diseases, is a small molecule that acts as a regulator of mitochondrial function and exerts neurop
Externí odkaz:
https://doaj.org/article/76c74382e5f34c8b89851841714ff4a1
Autor:
Anna Cozzi, Daniel I. Orellana, Paolo Santambrogio, Alicia Rubio, Cinzia Cancellieri, Serena Giannelli, Maddalena Ripamonti, Stefano Taverna, Giulia Di Lullo, Ermanna Rovida, Maurizio Ferrari, Gian Luca Forni, Chiara Fiorillo, Vania Broccoli, Sonia Levi
Publikováno v:
Stem Cell Reports, Vol 13, Iss 5, Pp 832-846 (2019)
Summary: Neuroferritinopathy (NF) is a movement disorder caused by alterations in the L-ferritin gene that generate cytosolic free iron. NF is a unique pathophysiological model for determining the direct consequences of cell iron dysregulation. We es
Externí odkaz:
https://doaj.org/article/1a80b9ac5a774715806543d0e61b3993
Publikováno v:
Cells, Vol 10, Iss 8, p 1969 (2021)
In 2001, a new type of human ferritin was identified by searching for homologous sequences to H-ferritin in the human genome. After the demonstration that this ferritin is located specifically in the mitochondrion, it was called mitochondrial ferriti
Externí odkaz:
https://doaj.org/article/27fb922c84ad491e95729f2643e85aa5
Autor:
Daniel I Orellana, Paolo Santambrogio, Alicia Rubio, Latefa Yekhlef, Cinzia Cancellieri, Sabrina Dusi, Serena G Giannelli, Paola Venco, Pietro G Mazzara, Anna Cozzi, Maurizio Ferrari, Barbara Garavaglia, Stefano Taverna, Valeria Tiranti, Vania Broccoli, Sonia Levi
Publikováno v:
EMBO Molecular Medicine, Vol 8, Iss 10, Pp 1197-1211 (2016)
Abstract Pantothenate kinase‐associated neurodegeneration (PKAN) is an early onset and severely disabling neurodegenerative disease for which no therapy is available. PKAN is caused by mutations in PANK2, which encodes for the mitochondrial enzyme
Externí odkaz:
https://doaj.org/article/f055c4ac57584474ab1daf14ac15b610
Autor:
Federica Maccarinelli, Antonella Pagani, Anna Cozzi, Franca Codazzi, Giuseppina Di Giacomo, Sara Capoccia, Stefania Rapino, Dario Finazzi, Letterio Salvatore Politi, Francesca Cirulli, Marco Giorgio, Ottavio Cremona, Fabio Grohovaz, Sonia Levi
Publikováno v:
Neurobiology of Disease, Vol 81, Iss , Pp 119-133 (2015)
Neuroferritinopathy is a rare genetic disease with a dominant autosomal transmission caused by mutations of the ferritin light chain gene (FTL). It belongs to Neurodegeneration with Brain Iron Accumulation, a group of disorders where iron dysregulati
Externí odkaz:
https://doaj.org/article/ab480e02c5734d1caa9262644f163cea
Autor:
Kristina Lenker, Anna Cozzi, Michael Murray, Allison Harvey, Susan Calhoun, Julio Fernandez-Mendoza
Publikováno v:
SLEEP. 46:A300-A300
Introduction Young adults with Autism Spectrum Disorder (ASD) frequently report a multitude of pervasive sleep and circadian problems, including difficulties initiating and maintain sleep, excessive sleepiness, delayed phase, and irregular sleep–wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::815d4d862a4e6a112b851bd9e766849c
https://doi.org/10.1093/sleep/zsad077.0682
https://doi.org/10.1093/sleep/zsad077.0682
Publikováno v:
Cellular and Molecular Life Sciences. 78:3355-3367
Neuroferritinopathy is a rare autosomal dominant inherited movement disorder caused by alteration of the L-ferritin gene that results in the production of a ferritin molecule that is unable to properly manage iron, leading to the presence of free red
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af6323b985d9c462306e0f6246fd6286
https://doi.org/10.1007/s00018-020-03747-w
https://doi.org/10.1007/s00018-020-03747-w