Immunohistochemical detection of C9orf72 protein in Frontotemporal Lobar Degeneration and Motor Neurone Disease: patterns of immunostaining and an evaluation of commercial antibodies [PDF]
, 2017 We have employed as ‘gold standards’ two in-house, well-characterised and validated polyclonal antibodies, C9-L and C9-S, which detect the longer and shorter forms of C9orf72, and have compared seven other commercially available antibodies with these in ...
Pickering-Brown, Stuart +15 more
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Characterization of C9orf72 function in autophagy and RNA metabolism [PDF]
, 2022 Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two devastating neurodegenerative disorders that share clinical, pathological, and genetic features.
Nörpel, Julia
core
Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72 [PDF]
, 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).
Albert R. La Spada +41 more
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Cellular distribution and function of C9ORF72 protein in cellular models of Amyotrophic Lateral Sclerosis [PDF]
, 2021 Estudos genéticos recentes apontaram uma mutação no gene C9ORF72 como a causa genética mais comum para Esclerose lateral amiotrófica (ELA) e Demência Frontotemporal (FTD), porém, sua contribuição para o surgimento dessas desordens neurodegenerativas ...
Reis, Jáina Araújo
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Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels
Acta Neuropathologica Communications, 2019 A hexanucleotide repeat expansion in a noncoding region of C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Shangxi Xiao +3 more
doaj +1 more source
Propranolol reduces the accumulation of cytotoxic aggregates in C9orf72-ALS/FTD in vitro models
Current Research in Neurobiology, 2023 Mutations in the C9orf72 gene are the most common cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The pathogenetic mechanisms linked to this gene are a direct consequence of an aberrant intronic expansion of a ...
Mira Seidel +10 more
doaj +1 more source
Frontiers in Neurology, 2020 Hexanucleotide repeat expansion (HRE) in the chromosome 9 open-reading frame 72 (C9orf72) gene is the most common genetic cause underpinning frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). It leads to the accumulation of
Hannah Rostalski +17 more
doaj +1 more source
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
The C9ORF72 repeat expansion alters neurodevelopment
Cell Reports, 2023 Summary: Genetic mutations that cause adult-onset neurodegenerative diseases are often expressed during embryonic stages, but it is unclear whether they alter neurodevelopment and how this might influence disease onset. Here, we show that the most common
Eric Hendricks +10 more
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Additional file 3: Figure S2. of The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway [PDF]
, 2016 Absence of C9orf72 isoform I in the C9orf72 CRISPR targeted mice. a. Western blot of brain lysates from WT or C9orf72 deficient (KO) mice using various C9orf72 antibodies as indicated. b.
Xiaolai Zhou (3547520) +6 more
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