Results 31 to 40 of about 14,543 (225)

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

RANTing about C9orf72 [PDF]

Neuron, 2013
A noncoding repeat expansion in the C9orf72 gene is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. In this issue of Neuron, Ash et al. (2013) show that despite being noncoding the repeats are translated, leading to widespread neuronal aggregates of the translated proteins.
Lashley, T, Hardy, J, Isaacs, AM
openaire   +2 more sources

Autophagy and neurodegeneration: Unraveling the role of C9ORF72 in the regulation of autophagy and its relationship to ALS-FTD pathology. [PDF]

, 2023
The proper functioning of the cell clearance machinery is critical for neuronal health within the central nervous system (CNS). In normal physiological conditions, the cell clearance machinery is actively involved in the elimination of misfolded and ...
Diab, Rim, Rim Diab, Pilotto, Federica, Smita Saxena, Federica Pilotto, Saxena, Smita   +5 more
core   +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

Investigation of C9orf72 in 4 Neurodegenerative Disorders [PDF]

Archives of Neurology, 2012
OBJECTIVE To estimate the allele frequency of C9orf72 (G4C2) repeats in amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), Alzheimer disease (AD), and Parkinson disease (PD). DESIGN The number of repeats was estimated by a 2-step genotyping strategy.
Z. Xi, L. Zinman, Y. Grinberg, D. Moreno, C. Sato, J. M. Bilbao, M. Ghani, I. Hernández, A. Ruiz, M. Boada, F. J. Morón, A. E. Lang, C. Marras, A. Bruni, R. Colao, R. G. Maletta, G. Puccio, I. Rainero, L. Pinessi, D. Galimberti, K. E. Morrison, C. Moorby, J. D. Stockton, M. Masellis, S. E. Black, L. Hazrati, Y. Liang, J. Van Haersma De With, L. Fornazzari, R. Villagra, R. Rojas Garcia, J. Clarimón, R. Mayeux, J. Robertson, P. St George Hyslop, E. Rogaeva   +35 more
openaire   +5 more sources

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

C9orf72 immunohistochemistry in Alzheimer's disease [PDF]

Alzheimer's Research & Therapy, 2012
Mutation in chromosome 9 open reading frame 72 (C9orf72) is a major genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), referred to as C9FTD/ALS. The function of the protein is currently unknown, and the pathomechanism of C9FTD/ALS remains to be elucidated.
openaire   +2 more sources

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