Results 51 to 60 of about 2,940 (145)

Disrupted autophagy undermines skeletal muscle adaptation and integrity [PDF]

, 2016
This review assesses the importance of proteostasis in skeletal muscle maintenance with a specific emphasis on autophagy. Skeletal muscle appears to be particularly vulnerable to genetic defects in basal and induced autophagy, indicating that autophagy ...
A Amalfitano, A Hishiya, A Kihara, A Osio, A Roos, A Ulbricht, A Ulbricht, AA Ruparelia, AB Moller, AC Nascimbeni, AW Beharry, AZ Caron, B Mohapatra, BC Beehler, BF Miller, C Behl, C He, C Mammucari, C Palma De, D Frank, D Frank, D Selcen, DJ Klionsky, DJ Klionsky, E Cabet, E Eden, E Masiero, E Masiero, E Tresse, EL Eskelinen, EL Eskelinen, Elliot J. Jokl, ES Moreira, F Lo Verso, FJ Ramos, G Blanco, G Dobrowolny, G Milan, Gonzalo Blanco, I Nemazanyy, I Nishino, I Tanida, J Laporte, J Sarparanta, J Schessl, J Zhao, JA Rodriguez-Navarro, JC Choi, JC Kaplan, JF Dice, JJ Wu, JN Rauch, JW Frey, K Baar, K Baar, K Gehmlich, K Sugie, KH Kim, KM Fetalvero, KP Bibee, KW Hsueh, L Brive, L Klinge, LG Goldfarb, LM Baehr, LP Winkel, LR Bridges, M Chrisam, M Kabbage, M Minoia, M Miyazaki, M Mofarrahi, M Pauly, M Sandri, M Vatta, M Vorgerd, MA Hauser, MC Malicdan, MJ Drummond, MS Bhuiyan, N Mizushima, N Mizushima, N Raben, N Raben, N Ramachandran, NC Chang, NP Whitehead, P Grumati, P Grumati, P Vicart, PV Schu, R Medina, R Medina, S Eghtesad, S Homma, S Lange, S Pattingre, S Schiaffino, S Waters, SC Bodine, SC Bodine, SJ Foltz, SK Custer, T Cullup, T Fukuda, T Fukuda, T Hidvegi, T Wenz, TN Stitt, V Arndt, V Carmignac, V Kirkin, V Schaeffer, V Tosch, VA Lira, Y Benjamini, Y Cao, Y Morikawa, Y Tanaka, Y Tian, Y Wang, Y Wei   +121 more
core   +1 more source

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms [PDF]

, 2017
We have studied a cohort of nemaline myopathy (NM) patients with mutations in the muscle α-skeletal actin gene (ACTA1). Immunoblot analysis of patient muscle demonstrates increased γ-filamin, myotilin, desmin and α-actinin in many NM patients, consistent
Clement, Sophie, Cooper, Sandra T., Davies, Kay E., Domazetovska, Ana, Ilkovski, Biljana, Laing, Nigel G., Maxwell, Adam L., North, Kathryn N., Nowak, Kristen J.   +8 more
core  

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration [PDF]

, 2014
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended cohort
Alexopoulos, Panagiotis, Almeida, Maria Rosário, Archetti, Silvana, Bagnoli, Silvia, Benussi, Luisa, Binetti, Giuliano, Boada, Mercè, Bonvicini, Cristian, Borroni, Barbara, Chiang, Huei-Hsin, Clarimón, Jordi, Cras, Patrick, Cruts, Marc, De Deyn, Peter Paul, De Jonghe, Peter, De Mendonça, Alexandre, Dermaut, Bart, Deschamps, William, Diehl-Schmid, Janine, Dillen, Lubina, Dols Icardo, Oriol, Engelborghs, Sebastiaan, Fabrizi, Gian Maria, Frisoni, Giovanni B., Gelpi, Ellen, Ghidoni, Roberta, Graff, Caroline, Haack, Tobias B., Heneka, Michael, Hernández, Isabel, Jessen, Frank, Jordanova, Albena, Kovacs, Gabor G., Laureys, Annelies, Llado Plarrumani, Albert, Lleó, Alberto, Maetzler, Walter, Martin, Jean-Jacques, Matej, Radoslav, Mattheijssens, Maria, Merlin, Celine, Miltenberger-Miltényi, Gabriel, Nacmias, Benedetta, Ortega-Cubero, Sara, Padovani, Alessandro, Parobkova, Eva, Pastor, Pau, Peeters, Karin, Perneczky, Robert, Prokisch, Holger, Ramirez, Alfredo, Razquin, Cristina, Robberecht, Wim, Ruiz Laza, Agustín, Salmon, Eric, Sanchez-Valle, Raquel, Santana, Isabel, Santens, Patrick, Santiago, Beatriz, Sarafov, Stayko, Schöls, Ludger, Sieben, Anne, Simões do Couto, Frederico, Sleegers, Kristel, Smets, Katrien, Sorbi, Sandro, Strom, Tim M., Ströbel, Thomas, Synofzik, Matthis, Testi, Silvia, Thonberg, Hakan, Tournev, Ivailo, Universitat Autònoma de Barcelona. Departament de Medicina, Van Broeckhoven, Christine, Van Damme, Philip, Van Den Broeck, Marleen, Van der Zee, Julie, Van Langenhove, Tim, Vandenberghe, Rik, Vandenbulcke, Mathieu, Vom Hagen, Jennifer Müller   +80 more
core   +4 more sources

Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases [PDF]

, 2009
Neurons are metabolically active cells with high energy demands at locations distant from the cell body. As a result, these cells are particularly dependent on mitochondrial function, as reflected by the observation that diseases of mitochondrial ...
Alexander, Baloyannis, Banchs, Bossy-Wetzel, Brockmann, Cassidy-Stone, Chang, Chen, Cho, Clark, D. C. Chan, de Brito, Delettre, Dodson, Exner, Fransson, Frezza, Gispert, H. Chen, Hollenbeck, Kim, Kim, Li, Liot, Lustbader, Macaskill, Meeusen, Milone, Mortiboys, Okamoto, Orr, Park, Parone, Popp, Reis, Suen, Ten Dijke, Trushina, Wang, Waterham, Wood-Kaczmar, Zuchner, Z  chner   +42 more
core   +3 more sources

Congenital muscular dystrophy: a clinical report on 17 patients [PDF]

, 1991
We concur with the idea that congenital muscular dystrophy (CMD) is a distinct clinical entity, and report 17 patients (2 negroes and 15 whites; 12M and 5 F; median age 6 years, range 1 to 24 years) with genetic, clinical, laboratorial ...
Ferreira Neto, A., Gabbai, Alberto Alain, Kiyomoto, Beatriz Hitomi, Lima, J. G. C., Oliveira, Acary Souza Bulle, Schmidt, Beny   +5 more
core   +1 more source

UEG Week 2019 Poster Presentations

, 2019
United European Gastroenterology Journal, Volume 7, Issue S8, Page 189-1030, October 2019.
wiley   +1 more source

Facioscapulohumeral muscular dystrophy: more complex than it appears [PDF]

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) has been classified as an autosomal dominant myopathy, linked to rearrangements in an array of 3.3 kb tandemly repeated DNA elements (D4Z4) located at the 4q subtelomere (4q35).
RICCI, GIULIA, TUPLER, Rossella, Zatz, M
core   +1 more source

Distrofia muscular congênita. Parte II: revisão da patogênese e perspectivas terapêuticas [PDF]

, 2009
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and ...
REED, Umbertina Conti
core   +2 more sources

UEG Week 2018 Poster Presentations

, 2018
United European Gastroenterology Journal, Volume 6, Issue S8, Page A135-A747, October 2018.
wiley   +1 more source

UEG Week 2016 Poster Presentations

, 2016
United European Gastroenterology Journal, Volume 4, Issue S5, Page A157-A720, October 2016.
wiley   +1 more source