Výsledky vyhledávání - "Claudia Colombrita"

Akademický článek

Is lipoprotein(a) measurement important for cardiovascular risk stratification in children and adolescents?

Autor: Marco Giussani, Antonina Orlando, Elena Tassistro, Erminio Torresani, Giulia Lieti, Ilenia Patti, Claudia Colombrita, Ilaria Bulgarelli, Laura Antolini, Gianfranco Parati, Simonetta Genovesi

Publikováno v: Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-9 (2024)

Abstract Background Elevated lipoprotein (Lp(a)) levels are associated with increased risk of atherosclerotic processes and cardiovascular events in adults. The amount of Lp(a) is mainly genetically determined. Therefore, it is important to identify

Externí odkaz: https://doaj.org/article/b5063d61237743a68975d11618c758cf

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Akademický článek

Human motor neurons derived from induced pluripotent stem cells are susceptible to SARS-CoV-2 infection

Autor: Gioia Cappelletti, Claudia Colombrita, Fiona Limanaqi, Sabrina Invernizzi, Micaela Garziano, Claudia Vanetti, Claudia Moscheni, Serena Santangelo, Silvia Zecchini, Daria Trabattoni, Vincenzo Silani, Mario Clerici, Antonia Ratti, Mara Biasin

Publikováno v: Frontiers in Cellular Neuroscience, Vol 17 (2023)

IntroductionCOVID-19 typically causes Q7 respiratory disorders, but a high proportion of patients also reports neurological and neuromuscular symptoms during and after SARSCoV-2 infection. Despite a number of studies documenting SARS-CoV-2 infection

Externí odkaz: https://doaj.org/article/751f6a5cda9c484892f8fea6960ed350

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Akademický článek

Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene

Autor: Serena Santangelo, Patrizia Bossolasco, Stefania Magri, Claudia Colombrita, Sabrina Invernizzi, Cinzia Gellera, Lorenzo Nanetti, Daniela Di Bella, Vincenzo Silani, Franco Taroni, Antonia Ratti

Publikováno v: Stem Cell Research, Vol 66, Iss , Pp 103008- (2023)

We generated an iPSC line from a patient with spastic paraplegia type 10 (SPG10) carrying the novel missense variant c.50G > A (p.R17Q) in the N-terminal motor domain of the kinesin family member 5A (KIF5A) gene.This patient-derived in vitro cell mod

Externí odkaz: https://doaj.org/article/a75a2c3ab14a42fdab4634051f262944

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Akademický článek

Chronic stress induces formation of stress granules and pathological TDP-43 aggregates in human ALS fibroblasts and iPSC-motoneurons

Autor: Antonia Ratti, Valentina Gumina, Paola Lenzi, Patrizia Bossolasco, Federica Fulceri, Clara Volpe, Donatella Bardelli, Francesca Pregnolato, AnnaMaria Maraschi, Francesco Fornai, Vincenzo Silani, Claudia Colombrita

Publikováno v: Neurobiology of Disease, Vol 145, Iss , Pp 105051- (2020)

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are fatal neurodegenerative diseases characterized by the presence of neuropathological aggregates of phosphorylated TDP-43 (P-TDP-43) protein. The RNA-binding protein TDP-43 parti

Externí odkaz: https://doaj.org/article/915291db3a3c465eaa3bda46ebd6b495

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Akademický článek

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

Autor: Maria Teresa Bonati, Federico Verde, Uros Hladnik, Paola Cattelan, Luca Campana, Chiara Castronovo, Nicola Ticozzi, Luca Maderna, Claudia Colombrita, Sergio Papa, Paolo Banfi, Vincenzo Silani

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 14-17 (2017)

We report on a family with occipital horn syndrome (OHS) diagnosed in the proband's late fifties. A novel ATP7A pathogenic variant (c.4222A>T, p.(Lys1408*)), representing the first nonsense variant and the second late truncation causing OHS rather th

Externí odkaz: https://doaj.org/article/385a1b3965b14c4187fbedc8abbd99ae

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Akademický článek

C9ORF72 Repeat Expansion Affects the Proteome of Primary Skin Fibroblasts in ALS

Autor: Marta Lualdi, Adeena Shafique, Edoardo Pedrini, Luisa Pieroni, Viviana Greco, Massimo Castagnola, Giorgia Cucina, Lucia Corrado, Alice Di Pierro, Fabiola De Marchi, Lara Camillo, Claudia Colombrita, Marianna D’Anca, Tiziana Alberio, Sandra D’Alfonso, Mauro Fasano

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 19, p 10385 (2021)

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive degeneration of the corticospinal motor neurons, which ultimately leads to death. The repeat expansion in chromosome 9 open reading frame 72 (C9ORF72) rep

Externí odkaz: https://doaj.org/article/826ae3a32da74839afdfdd893bea1ce8

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Akademický článek

Inter-Species Differences in Regulation of the Progranulin–Sortilin Axis in TDP-43 Cell Models of Neurodegeneration

Autor: Valentina Gumina, Elisa Onesto, Claudia Colombrita, AnnaMaria Maraschi, Vincenzo Silani, Antonia Ratti

Publikováno v: International Journal of Molecular Sciences, Vol 20, Iss 23, p 5866 (2019)

Cytoplasmic aggregates and nuclear depletion of the ubiquitous RNA-binding protein TDP-43 have been described in the autoptic brain tissues of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTLD) patients and both TDP-43 loss-of-fun

Externí odkaz: https://doaj.org/article/1c697296c62d492cb2fdbb1d63674a9a

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