Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Maura Samarani"'
Autor:
Andrea C. Kakouri, Christina Votsi, Anastasis Oulas, Paschalis Nicolaou, Massimo Aureli, Giulia Lunghi, Maura Samarani, Giacomo M. Compagnoni, Sabrina Salani, Alessio Di Fonzo, Thalis Christophides, George A. Tanteles, Eleni Zamba-Papanicolaou, Marios Pantzaris, George M. Spyrou, Kyproula Christodoulou
Publikováno v:
Cell & Bioscience, Vol 12, Iss 1, Pp 1-22 (2022)
Abstract Background Spastic ataxias (SAs) encompass a group of rare and severe neurodegenerative diseases, characterized by an overlap between ataxia and spastic paraplegia clinical features. They have been associated with pathogenic variants in a nu
Externí odkaz:
https://doaj.org/article/de99e0b0ac504981bfdd3b7a8d50c5f7
Autor:
Aysegul Dilsizoglu Senol, Maura Samarani, Sylvie Syan, Carlos M Guardia, Takashi Nonaka, Nalan Liv, Patricia Latour-Lambert, Masato Hasegawa, Judith Klumperman, Juan S Bonifacino, Chiara Zurzolo
Publikováno v:
PLoS Biology, Vol 19, Iss 7, p e3001287 (2021)
The accumulation of α-synuclein (α-syn) aggregates in specific brain regions is a hallmark of synucleinopathies including Parkinson disease (PD). α-Syn aggregates propagate in a "prion-like" manner and can be transferred inside lysosomes to recipi
Externí odkaz:
https://doaj.org/article/8d3afd767fd24d5ca05e43b7ded91e8a
Autor:
Giulia Lunghi, Emma Veronica Carsana, Nicoletta Loberto, Laura Cioccarelli, Simona Prioni, Laura Mauri, Rosaria Bassi, Stefano Duga, Letizia Straniero, Rosanna Asselta, Giulia Soldà, Alessio Di Fonzo, Emanuele Frattini, Manuela Magni, Nara Liessi, Andrea Armirotti, Elena Ferrari, Maura Samarani, Massimo Aureli
Publikováno v:
Cells, Vol 11, Iss 15, p 2343 (2022)
β-glucocerebrosidase is a lysosomal hydrolase involved in the catabolism of the sphingolipid glucosylceramide. Biallelic loss of function mutations in this enzyme are responsible for the onset of Gaucher disease, while monoallelic β-glucocerebrosid
Externí odkaz:
https://doaj.org/article/0c02205b205142f68964b014a1490b02
Autor:
Giacomo Monzio Compagnoni, Giulio Kleiner, Maura Samarani, Massimo Aureli, Gaia Faustini, Arianna Bellucci, Dario Ronchi, Andreina Bordoni, Manuela Garbellini, Sabrina Salani, Francesco Fortunato, Emanuele Frattini, Elena Abati, Christian Bergamini, Romana Fato, Silvia Tabano, Monica Miozzo, Giulia Serratto, Maria Passafaro, Michela Deleidi, Rosamaria Silipigni, Monica Nizzardo, Nereo Bresolin, Giacomo P. Comi, Stefania Corti, Catarina M. Quinzii, Alessio Di Fonzo
Publikováno v:
Stem Cell Reports, Vol 11, Iss 5, Pp 1185-1198 (2018)
Summary: Multiple system atrophy (MSA) is a progressive neurodegenerative disease that affects several areas of the CNS, whose pathogenesis is still widely unclear and for which an effective treatment is lacking. We have generated induced pluripotent
Externí odkaz:
https://doaj.org/article/325f58cfb0334279a093a2fea8e263cc
Autor:
Domitilla Schiumarini, Nicoletta Loberto, Giulia Mancini, Rosaria Bassi, Paola Giussani, Elena Chiricozzi, Maura Samarani, Silvia Munari, Anna Tamanini, Giulio Cabrini, Giuseppe Lippi, Maria Cristina Dechecchi, Sandro Sonnino, Massimo Aureli
Publikováno v:
Mediators of Inflammation, Vol 2017 (2017)
Cystic fibrosis (CF) is the most common autosomal genetic recessive disease caused by mutations of gene encoding for the cystic fibrosis transmembrane conductance regulator. Patients with CF display a wide spectrum of symptoms, the most severe being
Externí odkaz:
https://doaj.org/article/af2909c0c2a44a82ba88345b7d4a22fa
Autor:
Aureli, Giulia Lunghi, Emma Veronica Carsana, Nicoletta Loberto, Laura Cioccarelli, Simona Prioni, Laura Mauri, Rosaria Bassi, Stefano Duga, Letizia Straniero, Rosanna Asselta, Giulia Soldà, Alessio Di Fonzo, Emanuele Frattini, Manuela Magni, Nara Liessi, Andrea Armirotti, Elena Ferrari, Maura Samarani, Massimo
Publikováno v:
Cells; Volume 11; Issue 15; Pages: 2343
β-glucocerebrosidase is a lysosomal hydrolase involved in the catabolism of the sphingolipid glucosylceramide. Biallelic loss of function mutations in this enzyme are responsible for the onset of Gaucher disease, while monoallelic β-glucocerebrosid
Autor:
Emma Veronica Carsana, Giulia Lunghi, Simona Prioni, Laura Mauri, Nicoletta Loberto, Alessandro Prinetti, Fabio Andrea Zucca, Rosaria Bassi, Sandro Sonnino, Elena Chiricozzi, Stefano Duga, Letizia Straniero, Rosanna Asselta, Giulia Soldà, Maura Samarani, Massimo Aureli
Niemann-Pick type A disease (NPA) is a rare lysosomal storage disorder caused by mutations in the gene coding for the lysosomal enzyme acid sphingomyelinase (ASM). ASM deficiency leads to the consequent accumulation of its uncatabolized substrate, th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::970f1ce630e730724c630707fe382554
https://hdl.handle.net/2434/944971
https://hdl.handle.net/2434/944971
Autor:
Maria Fazzari, Giulia Lunghi, Pamela Fato, Maura Samarani, Erika Di Biase, Maria Grazia Ciampa, Diego Yuri Pomè, Simona Prioni, Manuela Valsecchi, Margherita Maggioni, Sandro Sonnino, Elena Chiricozzi, Laura Mauri
Publikováno v:
Glycoconjugate Journal. 37:329-343
It has been recently reported by our group that GM1-oligosaccharide added to neuroblastoma cells or administered to mouse experimental model mimics the neurotrophic and neuroprotective properties of GM1 ganglioside. In addition to this, differently f
Autor:
Andrea C. Kakouri, Christina Votsi, Anastasis Oulas, Paschalis Nicolaou, Massimo Aureli, Giulia Lunghi, Maura Samarani, Giacomo M. Compagnoni, Sabrina Salani, Alessio Di Fonzo, Thalis Christophides, George A. Tanteles, Eleni Zamba-Papanicolaou, Marios Pantzaris, George M. Spyrou, Kyproula Christodoulou
Publikováno v:
Cellbioscience. 12(1)
Background Spastic ataxias (SAs) encompass a group of rare and severe neurodegenerative diseases, characterized by an overlap between ataxia and spastic paraplegia clinical features. They have been associated with pathogenic variants in a number of g
Autor:
Anna Malekkou, Maura Samarani, Anthi Drousiotou, Christina Votsi, Sandro Sonnino, Marios Pantzaris, Elena Chiricozzi, Eleni Zamba-Papanicolaou, Massimo Aureli, Nicoletta Loberto, Kyproula Christodoulou
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 10, p 3099 (2018)
The GBA2 gene encodes the non-lysosomal glucosylceramidase (NLGase), an enzyme that catalyzes the conversion of glucosylceramide (GlcCer) to ceramide and glucose. Mutations in GBA2 have been associated with the development of neurological disorders s
Externí odkaz:
https://doaj.org/article/4c10326ea8924aeaa8c2371324a73547