Results 131 to 140 of about 12,015 (253)

Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS. [PDF]

, 2015
Amyotrophic lateral sclerosis (ALS) is characterized by motor neurone loss resulting in muscle weakness, spasticity and ultimately death. 5-10% are caused by inherited mutations, most commonly C9ORF72, SOD1, TARDBP and FUS.
Al-Sarraj, Albagha, Anborgh, Ash, Belzil, Blitterswijk, Blitterswijk, Buchman, Byrne, Cady, Chio, Chio, Cooper-Knock, Cooper-Knock, Cooper-Knock, Dejesus-Hernandez, Hewitt, Hortobagyi, Iida, Iida, Ince, Ince, Johnson, Kachaner, Kenna, Kirby, Kirby, Korac, Liu, Majounie, Maruyama, McCombe, McDermott, Millecamps, Mori, Mori, Osawa, Renton, Renton, Rezaie, Rosen, Schwab, Schwamborn, Shen, Solski, Sreedharan, Toro, Tumer, Weishaupt, Wong, Ying, Zhang   +51 more
core   +1 more source

Generation, quality control, and analysis of the first genomically humanised knock-in mice for the ALS/FTD genes SOD1, TARDBP (TDP-43), and FUS [PDF]

, 2021
Anny Devoy, Georgia Price, Francesca De Giorgio, Rosie Bunton-Stasyshyn, David Thompson, Samanta Gasco, Alasdair J. Allan, Gemma Codner, R. Nair, Charlotte Tibbit, Ross McLeod, Zeinab Ali, Judith Noda, Alessandro Marrero‐Gagliardi, José Miguel Brito Armas, Michelle Simon, Edward T. O’Neill, Jackie Harrison, Gemma Atkins, Silvia Corrochano, Michelle Stewart, Lydia Teboul, Abraham Acevedo‐Arozena, Elizabeth Fisher, Thomas J. Cunningham   +24 more
openalex   +1 more source

From Yeast to Therapeutics: Modeling Neurodegenerative Diseases in Saccharomyces cerevisiae

Yeast, Volume 42, Issue 12, Page 283-302, December 2025.
Yeast plasmids expressing human Aβ‐42, α‐syn, htt, and TDP‐43. Their fate includes an equilibrium between the endocytic pathway and aggregates that potentially disrupt endocytosis, vesicular transport, vacuolar autophagy, and mitochondrial activity. ABSTRACT Here, we review the use of Saccharomyces cerevisiae as a powerful model organism for studying ...
Jose Ribamar Ferreira‐Junior, Vittoria de Lima Camandona, Mario H. Barros   +2 more
wiley   +1 more source

Distinct and shared functions of ALS-associated proteins TDP-43, FUS and TAF15 revealed by multisystem analyses [PDF]

, 2015
The RNA-binding protein (RBP) TAF15 is implicated in amyotrophic lateral sclerosis (ALS). To compare TAF15 function to that of two ALS-associated RBPs, FUS and TDP-43, we integrate CLIP-seq and RNA Bind-N-Seq technologies, and show that TAF15 binds to ∼4,
Ares Jr., Manuel, Batra, Ranjan, Burge, Christopher B, Cambi, Franca, Chang, Jeremy, Chun, Seung J., Donohue, John P., Freese, Peter Dale, Hoon, Shawn, Huelga, Stephanie C., Hutt, Kasey R., Kapeli, Katannya, Kasarskis, Edward, Lambert, Nicole, Liang, Tiffany Y., Martinez, Fernando J., Pratt, Gabriel A., Ravits, John, Rigo, Frank, Shiue, Lily, Sundararaman, Balaji, Vu, Anthony Q., Yeo, Gene W., Zhang, Jiayu, Zhu, Haining   +24 more
core   +2 more sources

Atypical Frontotemporal Dementia Associated With SQSTM1 Gene Mutation: A Clinicopathological Case

Neuropathology, Volume 45, Issue 6, December 2025.
ABSTRACT A 78‐year‐old man presented with a six‐year history of progressive memory decline, initially manifesting as recent memory impairment and mild anomia, which gradually evolved into motor clumsiness, gait disturbances, language difficulties, behavioral changes, and late‐onset parkinsonism. He had been diagnosed with Paget disease of bone (PDB) at
Christian Espinoza‐Vinces, María Victoria Zelaya Huerta, Valle Coca Pueyo, Genoveva Montoya‐Murillo, Ana Patiño‐García, Rafael Villino‐Rodríguez, Ainhoa Atorrasagasti‐Villar, Javier Arbizu, Mario Riverol   +8 more
wiley   +1 more source

Mice Carrying ALS Mutant TDP-43, but Not Mutant FUS, Display In Vivo Defects in Axonal Transport of Signaling Endosomes

Cell Reports, 2020
Summary: Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disease resulting from a complex interplay between genetics and environment.
James N. Sleigh, Andrew P. Tosolini, David Gordon, Anny Devoy, Pietro Fratta, Elizabeth M.C. Fisher, Kevin Talbot, Giampietro Schiavo   +7 more
doaj   +1 more source

TDP-43 loss-of-function causes neuronal loss due to defective steroid receptor-mediated gene program switching in Drosophila [PDF]

, 2013
TDP-43 proteinopathy is strongly implicated in the pathogenesis of amyotrophic lateral sclerosis and related neurodegenerative disorders. Whether TDP-43 neurotoxicity is caused by a novel toxic gain-of-function mechanism of the aggregates or by a loss of
Adachi, Yoshitsugu, Aerts, Stein, Callaerts, Patrick, Chapuis, Julien, Dermaut, Bart, Diaper, Danielle, Dourlen, Pierre, Gistelinck, Marc, Hirth, Frank, Kleinberger, Gernot, Lambert, Jean-Charles, Naval-Sánchez, Marina, Van Broeckhoven, Christine, Vanden Broeck, Lies   +13 more
core   +3 more sources

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea

Movement Disorders, 2009
AbstractTDP‐43 has been identified as the pathological protein in the majority of cases of frontotemporal lobar degeneration and amyotrophic lateral sclerosis (ALS). TARDBP mutations have so far been uniquely associated with familial and sporadic ALS. We describe clinicopathological and genetic findings in a carrier of the novel K263E TARDBP variation,
Kovacs, Gabor G., Murrell, Jill R., Horvath, Sandor, Haraszti, Laszlo, Majtenyi, Katalin, Molnar, Maria J., Budka, Herbert, Ghetti, Bernardino, Spina, Salvatore   +8 more
openaire   +2 more sources

Novel miR-b2122 regulates several ALS-related RNA-binding proteins

Molecular Brain, 2017
Common pathological features of amyotrophic lateral sclerosis (ALS) include cytoplasmic aggregation of several RNA-binding proteins. Out of these RNA-binding proteins, TDP-43, FUS/TLS and RGNEF have been shown to co-aggregate with one another within ...
Zachary C. E. Hawley, Danae Campos-Melo, Michael J. Strong   +2 more
doaj   +1 more source

Inside out: the role of nucleocytoplasmic transport in ALS and FTLD [PDF]

, 2016
Neurodegenerative diseases are characterized by the presence of protein inclusions with a different protein content depending on the type of disease. Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are no exceptions to ...
Steven Boeynaems, Elke Bogaert, Philip Van Damme, Ludo Van Den Bosch   +3 more
core   +7 more sources