Results 31 to 40 of about 16,368 (183)

Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability [PDF]

, 2015
This work has been supported by: Motor Neurone Disease Association (G.B.M., S.C. and C.E.S.); Euan MacDonald Centre (G.B.M. and S.C.); European Research Council (L.V.); Cambridge Hospitals National Institute for Health Research Biomedical Research Center
Foster, Joshua D., Shaw, Christopher E., Cleary, Elaine M., Cleary, Elaine M, Foster, Joshua D, Miles, Gareth B, Devlin, Anna-Claire, Geti, Imbisaat, Cleary, Elaine Marie, Miles, Gareth B., Borooah, Shyamanga, Devlin, Anna Claire, Shaw, Christopher E, Vallier, Ludovic, Burr, Karen, Chandran, Siddharthan   +15 more
core   +1 more source

Deregulated expression of a longevity gene, Klotho, in the C9orf72 deletion mice with impaired synaptic plasticity and adult hippocampal neurogenesis

Acta Neuropathologica Communications, 2020
Hexanucleotide repeat expansion of C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Synergies between loss of C9ORF72 functions and gain of toxicities from the repeat expansions contribute to C9ORF72 ...
Wan Yun Ho, Sheeja Navakkode, Fujia Liu, Tuck Wah Soong, Shuo-Chien Ling   +4 more
doaj   +1 more source

Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins

Stem Cell Reports, 2020
Summary: In amyotrophic lateral sclerosis (ALS) motor neurons (MNs) undergo dying-back, where the distal axon degenerates before the soma. The hexanucleotide repeat expansion (HRE) in C9ORF72 is the most common genetic cause of ALS, but the mechanism of ...
Masin Abo-Rady, Norman Kalmbach, Arun Pal, Carina Schludi, Antje Janosch, Tanja Richter, Petra Freitag, Marc Bickle, Anne-Karin Kahlert, Susanne Petri, Stefan Stefanov, Hannes Glass, Selma Staege, Walter Just, Rajat Bhatnagar, Dieter Edbauer, Andreas Hermann, Florian Wegner, Jared L. Sterneckert   +18 more
doaj   +1 more source

Pathologic expansion in the C9orf72 gene is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis

Annals of Medicine, 2021
Introduction Respiratory insufficiency is the main cause of death in amyotrophic lateral sclerosis (ALS). As the C9orf72 repeat expansion represents the most common genetic risk factor for this disease, we studied whether C9orf72 modulates respiratory ...
Gabriel Miltenberger-Miltenyi, Vasco A. Conceição, Marta Gromicho, Ana Catarina Pronto-Laborinho, Susana Pinto, Mamede de Carvalho   +5 more
doaj   +1 more source

Genetic alterations of C9orf72, SOD1, TARDBP, FUS, and UBQLN2 genes in patients with Amyotrophic Lateral Sclerosis

Cogent Medicine, 2019
Amyotrophic lateral sclerosis is the most common motor neuron disease of the adulthood. Genetic analyses performed on cases with sporadic ALS (sALS) and familial ALS (fALS) have revealed mutations most commonly in the genes C9orf72, SOD1, TARDBP, FUS ...
Ciftci Vildan, Darbas Sule, Bilgen Turker, Uysal Hilmi, Karauzum Berker Sibel   +4 more
doaj   +1 more source

C9orf72 Proteins Regulate Autophagy and Undergo Autophagosomal or Proteasomal Degradation in a Cell Type-Dependent Manner

Cells, 2019
Dysfunctional autophagy or ubiquitin-proteasome system (UPS) are suggested to underlie abnormal protein aggregation in neurodegenerative diseases. Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS)-associated C9orf72 is implicated in ...
Stina Leskelä, Nadine Huber, Hannah Rostalski, Teemu Natunen, Anne M. Remes, Mari Takalo, Mikko Hiltunen, Annakaisa Haapasalo   +7 more
doaj   +1 more source

C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress [PDF]

, 2017
Hexanucleotide repeat expansions in the C9ORF72 gene are causally associated with frontotemporal lobar dementia (FTLD) and/or amyotrophic lateral sclerosis (ALS). The physiological function of the normal C9ORF72 protein remains unclear. In this study, we
Maharjan, Niran, Künzli, Christina, Saxena, Smita, Buthey, Kilian   +3 more
core   +2 more sources

Genetics of familial amyotrophic lateral sclerosis

Бюллетень сибирской медицины, 2021
To analyze results of the studies covering modern scientific views on the genetics of familial amyotrophic lateral sclerosis (FALS).We searched for full-text publications containing the key words “amyotrophic lateral sclerosis”, “FALS”, and “genetics” in
A. V. Savinova, N. A. Shnayder, R. F. Nasyrova   +2 more
doaj   +1 more source

Automated Fast-Flow Synthesis of C9orf72 Dipeptide Repeat Proteins [PDF]

, 2023
An expansion of the hexanucleotide (GGGGCC) repeat sequence in the chromosome 9 open frame 72 (c9orf72) is the most common genetic mutation in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Charlotte E., Farquhar, Kohei, Sato, Bradley, Pentelute   +2 more
core   +2 more sources

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