Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Laura Cracco"'
Autor:
Laura Cracco, Gianfranco Puoti, Antonio Cornacchia, Katie Glisic, Seong‑Ki Lee, Zerui Wang, Mark L. Cohen, Brian S. Appleby, Ignazio Cali
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-16 (2023)
Abstract The MV1 and MV2 subtypes of sporadic Creutzfeldt–Jakob disease (sCJD) are linked to the heterozygous methionine (M)/valine (V) polymorphism at codon 129 of the prion protein (PrP) gene. MV2 is phenotypically heterogeneous, whereas MV1, due
Externí odkaz:
https://doaj.org/article/bb4511f0e0f649868b26b4cd035a5762
Autor:
Satish K. Nemani, Xiangzhu Xiao, Ignazio Cali, Laura Cracco, Gianfranco Puoti, Massimiliano Nigro, Jody Lavrich, Anuradha Bharara Singh, Brian S. Appleby, Valerie L. Sim, Silvio Notari, Witold K. Surewicz, Pierluigi Gambetti
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-12 (2020)
Abstract One of remarkable features of sporadic Creutzfeldt-Jakob disease (sCJD) is the great phenotypic variability. Understanding the molecular basis of this variability has important implications for the development of therapeutic approaches. It i
Externí odkaz:
https://doaj.org/article/c9ed097c798c49debd92f73c5be253e7
Autor:
Laura Cracco, Xiangzhu Xiao, Satish K. Nemani, Jody Lavrich, Ignazio Cali, Bernardino Ghetti, Silvio Notari, Witold K. Surewicz, Pierluigi Gambetti
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-9 (2019)
Abstract Despite their phenotypic heterogeneity, most human prion diseases belong to two broadly defined groups: Creutzfeldt-Jakob disease (CJD) and Gerstmann-Sträussler-Scheinker disease (GSS). While the structural characteristics of the disease-re
Externí odkaz:
https://doaj.org/article/ea9329de289a415c88f3286c662ceb27
Autor:
Romolo Nonno, Silvio Notari, Michele Angelo Di Bari, Ignazio Cali, Laura Pirisinu, Claudia d’Agostino, Laura Cracco, Diane Kofskey, Ilaria Vanni, Jody Lavrich, Piero Parchi, Umberto Agrimi, Pierluigi Gambetti
Publikováno v:
Emerging Infectious Diseases, Vol 25, Iss 1, Pp 73-81 (2019)
Variably protease-sensitive prionopathy (VPSPr), a recently described human sporadic prion disease, features a protease-resistant, disease-related prion protein (resPrPD) displaying 5 fragments reminiscent of Gerstmann-Sträussler-Scheinker disease.
Externí odkaz:
https://doaj.org/article/ad97e37aa0e14c208f6fcf1cda0903b4
Autor:
Ignazio Cali, Laura Cracco, Dario Saracino, Rossana Occhipinti, Cinzia Coppola, Brian Stephen Appleby, Gianfranco Puoti
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 14 (2020)
The insertion of additional 168 base pair containing seven octapeptide repeats in the prion protein (PrP) gene region spanning residues 51–91 is associated with inherited prion disease. In 2008, we reported the clinical features of a novel de novo
Externí odkaz:
https://doaj.org/article/be3cf2568b694a1bbe5248cfdbf84111
Autor:
Nicholas Brennecke, Ignazio Cali, Tze How Mok, Helen Speedy, Genomics England Research Consortium, Laszlo L. P. Hosszu, Christiane Stehmann, Laura Cracco, Gianfranco Puoti, Thomas W. Prior, Mark L. Cohen, Steven J. Collins, Simon Mead, Brian S. Appleby
Publikováno v:
Viruses, Vol 13, Iss 9, p 1794 (2021)
Genetic prion disease accounts for 10–15% of prion disease. While insertion of four or more octapeptide repeats are clearly pathogenic, smaller repeat insertions have an unclear pathogenicity. The goal of this case series was to provide an insight
Externí odkaz:
https://doaj.org/article/c04a6d71b61f49a99831430bef4d4116
Autor:
Silvio Notari, Xiangzhu Xiao, Juan Carlos Espinosa, Yvonne Cohen, Liuting Qing, Patricia Aguilar-Calvo, Diane Kofskey, Ignazio Cali, Laura Cracco, Qingzhong Kong, Juan Maria Torres, Pierluigi Gambetti
Publikováno v:
Emerging Infectious Diseases, Vol 20, Iss 12, Pp 2006-2014 (2014)
Variably protease-sensitive prionopathy (VPSPr), a recently identified and seemingly sporadic human prion disease, is distinct from Creutzfeldt-Jakob disease (CJD) but shares features of Gerstmann-Sträussler-Scheinker disease (GSS). However, contrar
Externí odkaz:
https://doaj.org/article/465f8e92c0614bcda5457745a06f4d4f
Autor:
Laura Cracco, Emma H. Doud, Grace I. Hallinan, Holly J. Garringer, Max H. Jacobsen, Rose M. Richardson, Emanuele Buratti, Ruben Vidal, Bernardino Ghetti, Kathy L. Newell
Publikováno v:
Neuropathology and applied neurobiology. 48(6)
Frontotemporal dementias are neuropathologically characterised by frontotemporal lobar degeneration (FTLD). Intraneuronal inclusions of transactive response DNA-binding protein 43 kDa (TDP-43) are the defining pathological hallmark of approximately h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b249418f792c4c68b5f93067c2090ca
https://pubmed.ncbi.nlm.nih.gov/35836354
https://pubmed.ncbi.nlm.nih.gov/35836354
Autor:
Grace I. Hallinan, Kadir A. Ozcan, Md Rejaul Hoq, Laura Cracco, Frank S. Vago, Sakshibeedu R. Bharath, Daoyi Li, Max Jacobsen, Emma H. Doud, Amber L. Mosley, Anllely Fernandez, Holly J. Garringer, Wen Jiang, Bernardino Ghetti, Ruben Vidal
Publikováno v:
Acta neuropathologica. 144(3)
Prion protein (PrP) aggregation and formation of PrP amyloid (APrP) are central events in the pathogenesis of prion diseases. In the dominantly inherited prion protein amyloidosis known as Gerstmann–Sträussler–Scheinker (GSS) disease, plaques ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6d2929519086213e1eb8a1eaf205e57
https://pubmed.ncbi.nlm.nih.gov/35819518
https://pubmed.ncbi.nlm.nih.gov/35819518
Autor:
Ilaria Vanni, Silvio Notari, Laura Cracco, Pierluigi Gambetti, Piero Parchi, Diane Kofskey, Ignazio Cali, Claudia D'Agostino, Jody Lavrich, Umberto Agrimi, Romolo Nonno, Michele Angelo Di Bari, Laura Pirisinu
Publikováno v:
Emerging Infectious Diseases, Vol 25, Iss 1, Pp 73-81 (2019)
Emerging Infectious Diseases
Emerging Infectious Diseases
Variably protease-sensitive prionopathy (VPSPr), a recently described human sporadic prion disease, features a protease-resistant, disease-related prion protein (resPrPD) displaying 5 fragments reminiscent of Gerstmann-Sträussler-Scheinker disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d18ddcf6cbf018b51b33ba4b8e6c6d42
https://wwwnc.cdc.gov/eid/article/25/1/18-0807_article
https://wwwnc.cdc.gov/eid/article/25/1/18-0807_article