L
Lucila Autilio-Gambetti
Researcher at Case Western Reserve University
Publications - 73
Citations - 5374
Lucila Autilio-Gambetti is an academic researcher from Case Western Reserve University. The author has contributed to research in topics: Neurofilament & Slow axonal transport. The author has an hindex of 38, co-authored 73 publications receiving 5296 citations.
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Journal ArticleDOI
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism
Lev G. Goldfarb,Robert B. Petersen,Massimo Tabaton,Paul Brown,Andréa C. LeBlanc,Pasquale Montagna,Pietro Cortelli,Jean Julien,Claude Vital,William W. Pendelbury,Matii Haltia,Peter R. Wills,Jean J. Hauw,Paul E. McKeever,L. Monari,Bertold Schrank,Gary D. Swergold,Lucila Autilio-Gambetti,D. Carleton Gajdusek,Elio Lugaresi,Pierluigi Gambetti +20 more
TL;DR: Two distinct disease phenotypes linked to a single pathogenic mutation can be determined by a common polymorphism.
Journal ArticleDOI
Fatal Familial Insomnia, a Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
R. Medori,Hans Juergen Tritschler,Andréa C. LeBlanc,Federico Villare,Valeria Manetto,Hsiao Ying Chen,Run Xue,Suzanne M. Leal,Pasquale Montagna,Pietro Cortelli,Paolo Tinuper,Patrizia Avoni,M. Mochi,Agostino Baruzzi,Jean J. Hauw,Jurg Ott,Elio Lugaresi,Lucila Autilio-Gambetti,Pierluigi Gambetti +18 more
TL;DR: Fatal familial insomnia is a prion disease with a mutation in codon 178 of the PrP gene, but the disease phenotype seems to differ from that of previously described kindreds with the same point mutation.
Journal ArticleDOI
Truncated forms of the human prion protein in normal brain and in prion diseases.
Shu G. Chen,David B. Teplow,Piero Parchi,Jan K. Teller,Pierluigi Gambetti,Lucila Autilio-Gambetti +5 more
TL;DR: The data indicate that C1 is a major product of normal PrPc metabolism, generated by a cleavage that disrupts the neurotoxic and amyloidogenic region of PrP comprising residues 106-126, suggesting a role for C2 in prion diseases.
Journal ArticleDOI
Paired helical filaments from Alzheimer disease patients contain cytoskeletal components
TL;DR: It is concluded that these epitopes are integral components of the paired helical filaments and that, at least in part, paired helicals filaments are derived from altered elements of the normal neuronal cytoskeleton.
Journal ArticleDOI
Ubiquitin is associated with abnormal cytoplasmic filaments characteristic of neurodegenerative diseases
Valeria Manetto,George Perry,Massimo Tabaton,Paul Mulvihill,Victor A. Fried,Harry T. Smith,Pierluigi Gambetti,Lucila Autilio-Gambetti +7 more
TL;DR: It is concluded that ubiquitin is selectively present in neuronal inclusions of degenerative diseases.