The C9orf72 protein interacts with Rab1a and the ULK 1 complex to regulate initiation of autophagy [PDF]
EMBO Journal, 2016 A GGGGCC hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). C9orf72 encodes two C9orf72 protein isoforms of unclear function.
Emma F Smith +2 more
exaly +5 more sources
C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease [PDF]
Acta Neuropathologica Communications, 2020 A pathogenic GGGCCC hexanucleotide expansion in the first intron/promoter region of the C9orf72 gene is the most common mutation associated with amyotrophic lateral sclerosis (ALS).
John L. Goodier +6 more
doaj +5 more sources
Loss of C9orf72 perturbs the Ran-GTPase gradient and nucleocytoplasmic transport, generating compositionally diverse Importin β-1 granules [PDF]
Cell Reports, 2023 Summary: A hexanucleotide (GGGGCC)n repeat expansion in C9orf72 causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), eliciting toxic effects through generation of RNA foci, dipeptide repeat proteins, and/or loss of C9orf72 ...
Philip McGoldrick +4 more
doaj +2 more sources
Neuronal Transcriptome from C9orf72 Repeat Expanded Human Tissue is Associated with Loss of C9orf72 Function [PDF]
Free Neuropathology, 2020 A hexanucleotide G4C2 repeat expansion in C9orf72 is the most common genetic cause of familial and sporadic cases of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD). The mutation is associated with a reduction of C9orf72 protein
Elaine Y. Liu, Jenny Russ, Edward B. Lee
doaj +3 more sources
Moderate intrinsic phenotypic alterations in C9orf72 ALS/FTD iPSC-microglia despite the presence of C9orf72 pathological features [PDF]
Frontiers in Cellular Neuroscience, 2023 While motor and cortical neurons are affected in C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD), it remains largely unknown if and how non-neuronal cells induce or exacerbate neuronal damage. We differentiated C9orf72 ALS/FTD
Ileana Lorenzini +43 more
doaj +3 more sources
Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion [PDF]
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 +2 more
doaj +2 more sources
Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture. [PDF]
PLoS Biology, 2021 A major cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) spectrum disorder is the hexanucleotide G4C2 repeat expansion in the first intron of the C9orf72 gene.
Julia Nörpel +7 more
doaj +2 more sources
Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal Dementia [PDF]
Frontiers in Cellular Neuroscience, 2017 The presence of hexanucleotide repeat expansion (HRE) in the first intron of the human C9orf72 gene is the most common genetic cause underlying both familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Ranjan Batra +3 more
doaj +3 more sources
Validated assays for the quantification of C9orf72 human pathology [PDF]
Scientific ReportsA repeat expansion mutation in the C9orf72 gene is the leading known genetic cause of FTD and ALS. The C9orf72-ALS/FTD field has been plagued by a lack of reliable tools to monitor this genomic locus and its RNA and protein products.
S. E. Salomonsson +16 more
doaj +2 more sources
Autoimmune response to C9orf72 protein in amyotrophic lateral sclerosis. [PDF]
NatureAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by a progressive loss of motor neurons. Neuroinflammation is apparent in affected tissues, including increased T cell infiltration and activation of microglia, particularly ...
Michaelis T +18 more
europepmc +2 more sources