A pathogenic mutation in the ALS/FTD gene VCP induces mitochondrial hypermetabolism by modulating the permeability transition pore

Autor: Silke Vanderhaeghe, Jovan Prerad, Arun Kumar Tharkeshwar, Elien Goethals, Katlijn Vints, Jimmy Beckers, Wendy Scheveneels, Eveline Debroux, Katrien Princen, Philip Van Damme, Marc Fivaz, Gerard Griffioen, Ludo Van Den Bosch

Publikováno v: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-16 (2024)

Abstract Valosin-containing protein (VCP) is a ubiquitously expressed type II AAA+ ATPase protein, implicated in both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This study aimed to explore the impact of the disease-causing

Externí odkaz: https://doaj.org/article/61150bce5793479d8f52cfb7b32a5e38

A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors

Autor: Imogen J. Swift, Rosa Rademakers, NiCole Finch, Matt Baker, Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Giacomina Rossi, Matthis Synofzik, Carlo Wilke, David Mengel, Caroline Graff, Leonel T. Takada, Raquel Sánchez-Valle, Anna Antonell, Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Marina Arcaro, Stefanie Schreiber, Stefan Vielhaber, Philipp Arndt, Isabel Santana, Maria Rosario Almeida, Fermín Moreno, Myriam Barandiaran, Alazne Gabilondo, Johannes Stubert, Estrella Gómez-Tortosa, Pablo Agüero, M. José Sainz, Tomohito Gohda, Maki Murakoshi, Nozomu Kamei, Sarah Kittel-Schneider, Andreas Reif, Johannes Weigl, Jinlong Jian, Chuanju Liu, Ginette Serrero, Thomas Greither, Gerit Theil, Ebba Lohmann, Stefano Gazzina, Silvia Bagnoli, Giovanni Coppola, Amalia Bruni, Mirja Quante, Wieland Kiess, Andreas Hiemisch, Anne Jurkutat, Matthew S. Block, Aaron M. Carlson, Geir Bråthen, Sigrid Botne Sando, Gøril Rolfseng Grøntvedt, Camilla Lauridsen, Amanda Heslegrave, Carolin Heller, Emily Abel, Alba Gómez-Núñez, Roger Puey, Andrea Arighi, Enmanuela Rotondo, Lize C. Jiskoot, Lieke H. H. Meeter, João Durães, Marisa Lima, Miguel Tábuas-Pereira, João Lemos, Bradley Boeve, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Isabelle LeBer, Leila Sellami, Foudil Lamari, Fabienne Clot, Barbara Borroni, Valentina Cantoni, Jasmine Rivolta, Alberto Lleó, Juan Fortea, Daniel Alcolea, Ignacio Illán-Gala, Lucie Andres-Cerezo, Philip Van Damme, Jordi Clarimon, Petra Steinacker, Emily Feneberg, Markus Otto, Emma L. van der Ende, John C. van Swieten, Harro Seelaar, Henrik Zetterberg, Aitana Sogorb-Esteve, Jonathan D. Rohrer

Publikováno v: Alzheimer’s Research & Therapy, Vol 16, Iss 1, Pp 1-13 (2024)

Abstract Background Pathogenic heterozygous mutations in the progranulin gene (GRN) are a key cause of frontotemporal dementia (FTD), leading to significantly reduced biofluid concentrations of the progranulin protein (PGRN). This has led to a number

Externí odkaz: https://doaj.org/article/1d7c751ac55c494a90e49ef788756561

Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Autor: Sarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi, Christopher E. Shaw

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-2 (2024)

Externí odkaz: https://doaj.org/article/8e0ad59b00f44e48822c11311414e619

TDP-43 pathology is associated with increased tau burdens and seeding

Autor: Sandra O. Tomé, Grigoria Tsaka, Alicja Ronisz, Simona Ospitalieri, Klara Gawor, Luis Aragão Gomes, Markus Otto, Christine A. F. von Arnim, Philip Van Damme, Ludo Van Den Bosch, Estifanos Ghebremedhin, Celeste Laureyssen, Kristel Sleegers, Rik Vandenberghe, Frederic Rousseau, Joost Schymkowitz, Dietmar Rudolf Thal

Publikováno v: Molecular Neurodegeneration, Vol 18, Iss 1, Pp 1-18 (2023)

Abstract Background Most Alzheimer’s Disease (AD) cases also exhibit limbic predominant age-related TDP-43 encephalopathy neuropathological changes (LATE-NC), besides amyloid-β plaques and neurofibrillary tangles (NFTs) containing hyperphosphoryla

Externí odkaz: https://doaj.org/article/6d4c20f39ade433fbec5db315642c427

Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A

Autor: Shahram Attarian, Peter Young, Thomas H. Brannagan, David Adams, Philip Van Damme, Florian P. Thomas, Carlos Casanovas, Jafar Kafaie, Céline Tard, Maggie C. Walter, Yann Péréon, David Walk, Amro Stino, Marianne de Visser, Camiel Verhamme, Anthony Amato, Gregory Carter, Laurent Magy, Jeffrey M. Statland, Kevin Felice

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-2 (2024)

Externí odkaz: https://doaj.org/article/667ec559a27c41e486ae7d0fb0dca401