Results 71 to 80 of about 21,720 (221)

Neuid: A Novel Neuron‐Enriched LncRNA that Connects Epigenetic Gene Silencing to Alzheimer's Disease

Advanced Science, EarlyView.
ABSTRACT The increasing evidence that non‐coding RNAs can become deregulated during pathogenesis is dramatically expanding the space for drug discovery beyond the protein‐coding genome. Long noncoding RNAs (lncRNAs) are emerging as key regulators of cellular function, yet most remain uncharacterized.
Ranjit Pradhan, Zorica Petrovic, M. Sadman Sakib, Sophie Schröder, Dennis Manfred Krüger, Tonatiuh Pena, Eren Diniz, Susanne Burkhardt, Anna‐Lena Schütz, Verena Gisa, Iga Grzadzielewska, Karl Toischer, Thor D. Stein, Jan Krzysztof Blusztajn, Ivana Delalle, Jelena Radulovic, Farahnaz Sananbenesi, Andre Fischer   +17 more
wiley   +1 more source

Optineurin functions for optimal immunity [PDF]

, 2018
Optineurin (OPTN) was identified 20 years ago in a yeast-two-hybrid screen with a viral protein known to inhibit the cytolytic effects of tumor necrosis factor.
Slowicka, Karolina, van Loo, Geert
core   +1 more source

Disease Mechanisms ofC9ORF72Repeat Expansions [PDF]

Cold Spring Harbor Perspectives in Medicine, 2017
G4C2 repeat expansions within the C9ORF72 gene are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). These bidirectionally transcribed expansions lead to (1) the accumulation of sense G4C2 and antisense G2C4 repeat-containing RNA, (2) the production of proteins of repeating dipeptides through ...
Tania F, Gendron, Leonard, Petrucelli
openaire   +2 more sources

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. [PDF]

, 2017
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related neurodegenerative disorders with shared genetic etiologies and overlapping clinical and pathological features. Here we studied a novel ALS/FTD family and identified the
Annu, Kavya, Baker, Matt, Bigio, Eileen, Boylan, Kevin B., Caselli, Richard J., Dickson, Dennis W., Finger, Elizabeth, Fryer, John D., Graff-Radford, Neill R., Hirsch-Reinshagen, Veronica, Hsiung, Ging-Yuek R., Kato, Masato, Keith, Julia, Kim, Hong Joo, Krieger, Charles, Kurti, Aishe, Lacomis, David, Lippa, Carol, Mackenzie, Ian R., Matchett, Billie J., Messing, James, Mesulam, Marsel, Mittag, Tanja, Murray, Melissa E., Nicholson, Alexandra M., Perkerson, Ralph B., Petersen, Ronald C., Petrucelli, Leonard, Pottier, Cyril, Purice, Maria D., Rademakers, Rosa, Rogaeva, Ekaterina, Roos, Raymond P., Sarkar, Mohona, Stewart, Heather, Taylor, J. Paul, Temirov, Jamshid, Weintraub, Sandra, Wszolek, Zbigniew K., Zinman, Lorne, Zivkovic, Sasha A., Züchner, Stephan   +41 more
core   +2 more sources

Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?

Annals of Neurology, EarlyView.
Background Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls).
Maurizio Grassano, Francesca Palumbo, Gabriele Mora, Salvatore Gallone, Giovanni De Marco, Ilaria Merulla, Claudia Paolantonio, Alessandra Maccabeo, Antonio Canosa, Umberto Manera, Rosario Vasta, Barbara Iazzolino, Marcella Testa, Giuseppe Fuda, Paolina Salamone, Giulia Marchese, Federico Casale, Cristina Moglia, Andrea Calvo, Giuseppe Borghero, Adriano Chiò   +20 more
wiley   +1 more source

Screening for C9ORF72 repeat expansion in FTLD [PDF]

Neurobiology of Aging, 2012
In the present study we aimed to determine the prevalence of C9ORF72 GGGGCC hexanucleotide expansion in our cohort of 53 frontotemporal lobar degeneration (FTLD) patients and 174 neurologically normal controls. We identified the hexanucleotide repeat, in the pathogenic range, in 4 (2 bv-frontotemporal dementia (FTD) and 2 FTD-amyotrophic lateral ...
Ferrari R, Mok K, Moreno JH, Cosentino S, Goldman J, PIETRINI, PIETRO, Mayeux R, Tierney MC, Kapogiannis D, Jicha GA, Murrell JR, Ghetti B, Wassermann EM, Grafman J, Hardy J, Huey ED, Momeni P.   +16 more
openaire   +3 more sources

Myelin loss in C9orf72 hexanucleotide expansion carriers

Journal of Neuroscience Research, 2022
Abstract The most frequent genetic cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) is the hexanucleotide repeat expansion in C9orf72 .
Sònia Sirisi, Marta Querol‐Vilaseca, Oriol Dols‐Icardo, Jordi Pegueroles, Victor Montal, Laia Muñoz, Soraya Torres, Paula Ferrer‐Raventós, Maria Florencia Iulita, Érika Sánchez‐Aced, Rafael Blesa, Ignacio Illán‐Gala, Laura Molina‐Porcel, Sergi Borrego‐Ecija, Raquel Sánchez‐Valle, Jordi Clarimon, Olivia Belbin, Juan Fortea, Alberto Lleó   +18 more
openaire   +3 more sources

Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD

Acta Neuropathologica Communications, 2021
The most common genetic cause of familial and sporadic amyotrophic lateral sclerosis (ALS) is a GGGGCC hexanucleotide repeat expansion (HRE) in the C9orf72 gene.
Alyssa N. Coyne, Jeffrey D. Rothstein
doaj   +1 more source

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers. [PDF]

, 2015
Clinical and neuropathological characteristics associated with G4C2 repeat expansions in chromosome 9 open reading frame 72 (C9ORF72), the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, are highly variable ...
Bieniek, Kevin F, Boeve, Bradley F, Boylan, Kevin B, Castanedes-Casey, Monica, Cleveland, Don W, Crook, Julia E, Daughrity, Lillian M, Desaro, Pamela, Dickson, Dennis W, Edbauer, Dieter, Gendron, Tania F, Graff-Radford, Neill R, Jiang, Jie, Josephs, Keith A, Knopman, David S, Lagier-Tourenne, Clotilde, Lucas, John A, Murray, Melissa E, Overstreet, Karen, Parisi, Joseph E, Pedraza, Otto, Petersen, Ronald C, Petrucelli, Leonard, Rademakers, Rosa, Robertson, Amelia, Rousseau, Linda, Rush, Beth K, Thomas, Colleen S, van Blitterswijk, Marka   +28 more
core   +2 more sources

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1‐targeted antisense oligonucleotides for SOD1‐ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended.
Delia Gagliardi, Chiara Villella, Matteo Zanovello, Virginia Iacobelli, Stefania Corti, Giacomo Pietro Comi, Pietro Fratta, Henry Houlden, Arianna Tucci, Dario Ronchi   +9 more
wiley   +1 more source