Cleaved TMEM106B forms amyloid aggregates in central and peripheral nervous systems

Autor: Mehtap Bacioglu, Manuel Schweighauser, Derrick Gray, Sofia Lövestam, Taxiarchis Katsinelos, Annelies Quaegebeur, John van Swieten, Zane Jaunmuktane, Stephen W. Davies, Sjors H. W. Scheres, Michel Goedert, Bernardino Ghetti, Maria Grazia Spillantini

Publikováno v: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-14 (2024)

Abstract Filaments made of residues 120-254 of transmembrane protein 106B (TMEM106B) form in an age-dependent manner and can be extracted from the brains of neurologically normal individuals and those of subjects with a variety of neurodegenerative d

Externí odkaz: https://doaj.org/article/db92f0d916014e6583ce491ec51339dd

The Revised Self-Monitoring Scale detects early impairment of social cognition in genetic frontotemporal dementia within the GENFI cohort

Autor: Hannah D. Franklin, Lucy L. Russell, Georgia Peakman, Caroline V. Greaves, Martina Bocchetta, Jennifer Nicholas, Jackie Poos, Rhian S. Convery, David M. Cash, John van Swieten, Lize Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Daniela Galimberti, James B. Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris Butler, Alex Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Jonathan D. Rohrer, on behalf of the Genetic FTD Initiative, GENFI

Publikováno v: Alzheimer’s Research & Therapy, Vol 13, Iss 1, Pp 1-12 (2021)

Abstract Background Although social cognitive dysfunction is a major feature of frontotemporal dementia (FTD), it has been poorly studied in familial forms. A key goal of studies is to detect early cognitive impairment using validated measures in lar

Externí odkaz: https://doaj.org/article/f17b8924f15b4ca789dba81212c88339

Disease-related cortical thinning in presymptomatic granulin mutation carriers

Autor: Sergi Borrego-Écija, Roser Sala-Llonch, John van Swieten, Barbara Borroni, Fermín Moreno, Mario Masellis, Carmela Tartaglia, Caroline Graff, Daniela Galimberti, Robert Laforce, Jr, James B Rowe, Elizabeth Finger, Rik Vandenberghe, Fabrizio Tagliavini, Alexandre de Mendonça, Isabel Santana, Matthis Synofzik, Simon Ducharme, Johannes Levin, Adrian Danek, Alex Gerhard, Markus Otto, Chris Butler, Giovanni Frisoni, Sandro Sorbi, Carolin Heller, Martina Bocchetta, David M Cash, Rhian S Convery, Katrina M Moore, Jonathan D Rohrer, Raquel Sanchez-Valle, Martin N. Rossor, Nick C. Fox, Ione O.C. Woollacott, Rachelle Shafei, Caroline Greaves, Mollie Neason, Rita Guerreiro, Jose Bras, David L. Thomas, Jennifer Nicholas, Simon Mead, Lieke Meeter, Jessica Panman, Janne Papma, Rick van Minkelen, Yolande Pijnenburg, Begoña Indakoetxea, Alazne Gabilondo, Mikel TaintaMD, Maria de Arriba, Ana Gorostidi, Miren Zulaica, Jorge Villanua, Zigor Diaz, Jaume Olives, Albert Lladó, Mircea Balasa, Anna Antonell, Nuria Bargallo, Enrico Premi, Maura Cosseddu, Stefano Gazzina, Alessandro Padovani, Roberto Gasparotti, Silvana Archetti, Sandra Black, Sara Mitchell, Ekaterina Rogaeva, Morris Freedman, Ron Keren, David Tang-Wai, Linn Öijerstedt, Christin Andersson, Vesna Jelic, Hakan Thonberg, Andrea Arighi, Chiara Fenoglio, Elio Scarpini MD, Giorgio Fumagalli, Thomas Cope, Carolyn Timberlake, Timothy Rittman, Christen Shoesmith, Robart Bartha, Rosa Rademakers, Carlo Wilke, Benjamin Bender, Rose Bruffaerts, Philip Vandamme, Mathieu Vandenbulcke, Carolina Maruta, Catarina B. Ferreira, Gabriel Miltenberger, Ana Verdelho, Sónia Afonso, Ricardo Taipa, Paola Caroppo, Giuseppe Di Fede, Giorgio Giaccone, Sara Prioni, Veronica Redaelli, Giacomina Rossi, Pietro Tiraboschi, Diana Duro, Maria Rosario Almeida, Miguel Castelo-Branco, Maria João Leitão, Miguel Tabuas-Pereira, Beatriz Santiago, Serge Gauthier, Pedro Rosa-Neto, Michele Veldsman, Toby Flanagan, Catharina Prix, Tobias Hoegen, Elisabeth Wlasich, Sandra Loosli, Sonja Schonecker, Elisa Semler, Sarah Anderl-Straub

Publikováno v: NeuroImage: Clinical, Vol 29, Iss , Pp 102540- (2021)

Mutations in the granulin gene (GRN) cause familial frontotemporal dementia. Understanding the structural brain changes in presymptomatic GRN carriers would enforce the use of neuroimaging biomarkers for early diagnosis and monitoring. We studied 100

Externí odkaz: https://doaj.org/article/72b369b73dcc4f09a097d911ba639780

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

Autor: Alexandra L Young, Razvan V Marinescu, Neil P Oxtoby, Martina Bocchetta, Keir Yong, Nicholas C Firth, David M Cash, David L Thomas, Katrina M Dick, Jorge Cardoso, John van Swieten, Barbara Borroni, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni B Frisoni, Robert Laforce, Elizabeth Finger, Alexandre de Mendonça, Sandro Sorbi, Jason D Warren, Sebastian Crutch, Nick C Fox, Sebastien Ourselin, Jonathan M Schott, Jonathan D Rohrer, Daniel C Alexander, The Genetic FTD Initiative (GENFI), The Alzheimer’s Disease Neuroimaging Initiative (ADNI)

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-16 (2018)

Progressive diseases tend to be heterogeneous in their underlying aetiology mechanism, disease manifestation, and disease time course. Here, Young and colleagues devise a computational method to account for both phenotypic heterogeneity and temporal

Externí odkaz: https://doaj.org/article/edb6d5c8fa064af8b4704e322938446c

CSF proteome profiling across the Alzheimer’s disease spectrum reflects the multifactorial nature of the disease and identifies specific biomarker panels

Autor: Marta del Campo, Carel F. W. Peeters, Erik C. B. Johnson, Lisa Vermunt, Yanaika S. Hok-A-Hin, Mirrelijn van Nee, Alice Chen-Plotkin, David J. Irwin, William T. Hu, James J. Lah, Nicholas T. Seyfried, Eric B. Dammer, Gonzalo Herradon, Lieke H. Meeter, John van Swieten, Daniel Alcolea, Alberto Lleó, Allan I. Levey, Afina W. Lemstra, Yolande A. L. Pijnenburg, Pieter J. Visser, Betty M. Tijms, Wiesje M. van der Flier, Charlotte E. Teunissen

Publikováno v: Nature aging, 2(11), 1040-+. Nature Publishing Group
del Campo, M, Peeters, C F W, Johnson, E C B, Vermunt, L, Hok-A-Hin, Y S, van Nee, M, Chen-Plotkin, A, Irwin, D J, Hu, W T, Lah, J J, Seyfried, N T, Dammer, E B, Herradon, G, Meeter, L H, van Swieten, J, Alcolea, D, Lleó, A, Levey, A I, Lemstra, A W, Pijnenburg, Y A L, Visser, P J, Tijms, B M, van der Flier, W M & Teunissen, C E 2022, ' CSF proteome profiling across the Alzheimer’s disease spectrum reflects the multifactorial nature of the disease and identifies specific biomarker panels ', Nature Aging, vol. 2, no. 11, pp. 1040-1053 . https://doi.org/10.1038/s43587-022-00300-1
Nature Aging, 2(11), 1040-1053
Nature Aging, 2(11), 1040-1053. Springer
Nature Aging 2 (2022) 11

Development of disease-modifying therapies against Alzheimer's disease (AD) requires biomarkers reflecting the diverse pathological pathways specific for AD. We measured 665 proteins in 797 cerebrospinal fluid (CSF) samples from patients with mild co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64014f96208ce99010397e1041993783
https://doi.org/10.1038/s43587-022-00300-1