Results 51 to 60 of about 21,720 (221)

Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion

Frontiers in Cellular Neuroscience, 2021
Amyotrophic Lateral Sclerosis (ALS) is a complex neurodegenerative disease caused by degeneration of motor neurons (MNs). ALS pathogenic features include accumulation of misfolded proteins, glutamate excitotoxicity, mitochondrial dysfunction at distal ...
Agnes L. Nishimura, Natalia Arias, Natalia Arias   +2 more
doaj   +1 more source

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

Nature Neuroscience, 2020
Hexanucleotide expansions in C9orf72, which encodes a predicted guanine exchange factor, are the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Although repeat expansion has been established to generate toxic products, mRNAs encoding the C9ORF72 protein are also reduced in affected individuals.
Qiang Zhu, Jie Jiang, Tania F. Gendron, Melissa McAlonis-Downes, Lulin Jiang, Amy Taylor, Sandra Diaz Garcia, Somasish Ghosh Dastidar, Maria J. Rodriguez, Patrick King, Yongjie Zhang, Albert R. La Spada, Huaxi Xu, Leonard Petrucelli, John Ravits, Sandrine Da Cruz, Clotilde Lagier-Tourenne, Don W. Cleveland   +17 more
openaire   +5 more sources

Conserved presence of G-quadruplex forming sequences in the Long Terminal Repeat Promoter of Lentiviruses [PDF]

, 2017
G-quadruplexes (G4s) are secondary structures of nucleic acids that epigenetically regulate cellular processes. In the human immunodeficiency lentivirus 1 (HIV-1), dynamic G4s are located in the unique viral LTR promoter.
A Ayouba, A Henderson, A Rambaut, AK Todd, AM Fleming, AN Lane, AR Haeusler, B Berkhout, B Zhou, BF Keele, D Piekna-Przybylska, D Qu, D Rhodes, D Sen, DJ Patel, E Tosoni, EA Raiber, F Barre-Sinoussi, F Benachenhou, F Bibollet-Ruche, F Heuverswyn Van, F Turrini, G Biffi, GE Crooks, IT Holder, J Felsenstein, J Norseen, J Qiu, J Song, J Yamaguchi, JE Clements, JF Fisette, JP Taylor, K Tamura, K Tluckova, KA Jones, LA Pereira, M Fry, M Metifiot, M Sala, M Scalabrin, MA Larkin, N Maizels, ND Perkins, NH Campbell, P Fratta, P Ivanov, P Murat, P Sket, R Perrone, R Perrone, R Perrone, R Perrone, RC Edgar, RC Gallo, RJ Gifford, S Amrane, S Artusi, S Artusi, S Balasubramanian, S Bhatia, S Broos, S Burge, S Pohlmann, SE Tong-Starksen, SR Wang, SR Wang, Y Wang   +67 more
core   +1 more source

Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy. [PDF]

, 2019
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by polyglutamine (polyQ) expansion in the androgen receptor (AR). Prior studies have highlighted the importance of AR nuclear localization in SBMA pathogenesis; therefore, in ...
Arnold, Frederick J., Merry, Diane E., Pluciennik, Anna   +2 more
core   +3 more sources

Atypical parkinsonism: An Update. [PDF]

, 2013
Purpose of review: This update discusses novel aspects on genetics, diagnosis, and treatments of atypical parkinsonism published over the past 2 years. Recent findings: A genome-wide association study identified new genetic risk factors for progressive ...
Hoeglinger, GU, Stamelou, M
core   +1 more source

Potential of activated microglia as a source of dysregulated extracellular microRNAs contributing to neurodegeneration in amyotrophic lateral sclerosis [PDF]

, 2020
Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron degeneration in adults, and several mechanisms underlying the disease pathology have been proposed.
Christoforidou, Eleni, Hafezparast, Majid, Joilin, Greig   +2 more
core   +1 more source

A comparative bioinformatic analysis of C9orf72

PeerJ, 2018
C9orf72 is associated with frontotemporal dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS), both of which are devastating neurodegenerative diseases. Findings suggest that an expanded hexanucleotide repeat in the non-coding region of the C9orf72 gene is the most common cause of familial FTD and ALS. Despite considerable efforts being made towards
Shalini Iyer, K. Ravi Acharya, Vasanta Subramanian   +2 more
openaire   +3 more sources

Concomitant gain and loss of function pathomechanisms in C9ORF72 amyotrophic lateral sclerosis

Life Science Alliance, 2021
Axonal trafficking deficits and neurodegeneration in C9ORF72 motoneurons are mediated by GOF and LOF mechanisms with RNA foci and DPRs as upstream events, whereas DNA damage appears downstream.
Arun Pal, Benedikt Kretner, Masin Abo-Rady, Hannes Glaβ, Banaja P Dash, Marcel Naumann, Julia Japtok, Nicole Kreiter, Ashutosh Dhingra, Peter Heutink, Tobias M Böckers, René Günther, Jared Sterneckert, Andreas Hermann   +13 more
doaj   +1 more source

New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers

Frontiers in Neuroscience, 2018
Frontotemporal dementia (FTD) is a fatal neurodegenerative disease characterized by behavioral and language disorders. The main genetic cause of FTD is an intronic hexanucleotide repeat expansion (G4C2)n in the C9ORF72 gene.
Arthur Viodé, Clémence Fournier, Clémence Fournier, Agnès Camuzat, Agnès Camuzat, François Fenaille, NeuroCEB Brain Bank, Morwena Latouche, Morwena Latouche, Fanny Elahi, Isabelle Le Ber, Isabelle Le Ber, Isabelle Le Ber, Christophe Junot, Foudil Lamari, Foudil Lamari, Vincent Anquetil, Vincent Anquetil, François Becher, Franck Letournel, Anne Vital, Françoise Chapon, Catherine Godfraind, Claude-Alain Maurage, Vincent Deramecourt, David Meyronnet, Nathalie Streichenberger, André Maues de Paula, Valérie Rigau, Fanny Vandenbos-Burel, Charles Duyckaerts, Danielle Seilhean, Véronique Sazdovitch, Serge Milin, Dan Christian Chiforeanu, Annie Laquerrière, Béatrice Lannes   +36 more
doaj   +1 more source

Lessons from LIMK1 enzymology and their impact on inhibitor design [PDF]

, 2019
LIM domain kinase 1 (LIMK1) is a key regulator of actin dynamics. It is thereby a potential therapeutic target for the prevention of fragile X syndrome and amyotrophic lateral sclerosis.
Beltrami, A, Bullock, Alexander, Canning, P, Chaikuad, A, Chatterjee, D, Knapp, S, Knaus, P, Mathea, S, Preuss, F, Salah, E, Tumber, A   +10 more
core   +2 more sources