Results 91 to 100 of about 2,881 (205)

Mitochondrial dysfunction, cause or consequence in neurodegenerative diseases?

BioEssays, Volume 47, Issue 1, January 2025.
Endolysosomal and mitochondrial dysfunctions are major pathological hallmarks in neurodegeneration. In healthy neurons, lysosomes maintain mitochondrial health through membrane contact sites and local translation. In disease, failing lysosomal degradation compromises mitophagy, activating cGAS‐STING leading to further congestion and immune responses ...
Zoë P. Van Acker, Thomas Leroy, Wim Annaert   +2 more
wiley   +1 more source

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

An update on autophagy disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Macroautophagy is a highly conserved cellular pathway for the degradation and recycling of defective cargo including proteins, organelles, and macromolecular complexes. As autophagy is particularly relevant for cellular homeostasis in post‐mitotic tissues, congenital disorders of autophagy, due to monogenic defects in key autophagy genes ...
Hormos Salimi Dafsari, Diego Martinelli, Afshin Saffari, Darius Ebrahimi‐Fakhari, Manolis Fanto, Carlo Dionisi‐Vici, Heinz Jungbluth   +6 more
wiley   +1 more source

Muscle histopathology in nebulin-related nemaline myopathy : ultrastrastructural findings correlated to disease severity and genotype [PDF]

, 2014
Peer ...
Bellance, Remi, Böhm, Johann, De Winter, Josine M., Estournet, Brigitte, Eymard, Bruno, Fardeau, Michel, Laporte, Jocelyn, Lehtokari, Vilma-Lotta, Lubieniecki, Fabiana, Madelaine, Angéline, Malfatti, Edoardo, Monges, Soledad, Ottenheijm, Coen AC, Pelin, Katarina, Quijano-Roy, Susana, Romero, Norma B., Schäffer, Ursula, Taratuto, Ana Lía, Viou, Mai Thao, Wallgren-Pettersson, Carina, Wu, Bin   +20 more
core   +4 more sources

A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps

European Journal of Neurology, Volume 32, Issue 1, January 2025.
Abstract Background and purpose Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the p.Leu2286Val variant in 17 Basque patients, to accurately determine its correlation with clinical features and to explore the possible founder ...
Alba Segarra‐Casas, Pablo Iruzubieta, Solange Kapetanovic, Aurelio Hernández‐Laín, Ivonne Jericó, Roberto Fernández‐Torrón, Miren Maneiro, Pablo Marco‐Moreno, M. Victoria Zelaya‐Huerta, Benjamín Rodríguez‐Santiago, Francesc Calafell, Ana Töpf, Volker Straub, Ainara Vallejo‐Illarramendi, Adolfo López de Munain, Pia Gallano, Lidia Gonzalez‐Quereda   +16 more
wiley   +1 more source

Activity of Genes with Functions in Human Williams-Beuren Syndrome Is Impacted by Mobile Element Insertions in the Gray Wolf Genome. [PDF]

, 2018
In canines, transposon dynamics have been associated with a hyper-social behavioral syndrome, although the functional mechanism has yet to be described.
Aardema, Matthew L, Ji, Sarah S, Sinsheimer, Janet S, Stahler, Daniel R, Udell, Monique AR, vonHoldt, Bridgett M   +5 more
core   +2 more sources

Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing

Case Reports in Pediatrics, Volume 2025, Issue 1, 2025.
We describe a three‐year‐old girl with an unusual c‐terminal binding protein 1 (CTBP1) gene variant. She presented with features of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome (HADDTS), following numerous chest infections, poor weight gain and delayed motor development during the early years.
Silvia Beatriz Sanchez Marco, Emily Pardington, Marie Monaghan, Robert Spaull, Ala Fadilah, Kathreena Kurian, Kayal Vijayakumar, Sarah Smithson, Anirban Majumdar, Vjekoslav Krzelj   +9 more
wiley   +1 more source

myomiR-dependent switching of BAF60 variant incorporation into Brg1 chromatin remodeling complexes during embryo myogenesis [PDF]

, 2014
Myogenesis involves the stable commitment of progenitor cells followed by the execution of myogenic differentiation, processes that are coordinated by myogenic regulatory factors, microRNAs and BAF chromatin remodeling complexes.
Bajard, Bartel, Buckingham, Béthune, Chen, Chen, Darnell, de la Serna, de la Serna, Ebert, Forcales, Goljanek-Whysall, Goljanek-Whysall, Goljanek-Whysall, Gros, Hamburger, Hirai, Ho, Hornstein, Ivey, Kadam, Krützfeldt, Lamba, Lessard, Lickert, Liu, Liu, Loeb, Mallappa, Mann, McCarthy, McGlinn, Mishima, Mok, Ochi, Puri, Rao, Rosenberg, Saccone, Simone, Sohni, Stark, Sweetman, Sweetman, Takeuchi, van Rooij, Wang, Williams, Williams, Wu, Yoo, Yoo, Zhao   +52 more
core   +1 more source

First person – Karla G. Espinosa and Salma Geissah

Disease Models & Mechanisms, 2022
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Karla G.
doaj   +1 more source

Centronuclear Myopathies [PDF]

Seminars in Pediatric Neurology, 2011
Romero, Norma, Bitoun, Marc
openaire   +3 more sources