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GenomicsWhole exome sequencing in patients with ALS and concomitant FTD lacking the C9orf72 repeat expansion
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological and genetic continuum. The purpose of the present study was to assess the mutation burden that is present in ALS and/or FTD known disease-causing genes in 54 patients (16 with available postmor...
EGAS00001002439 | EGA
TranscriptomicsTargeted degradation of sense and antisense C9orf72 RNA foci as therapy for amyotrophic lateral sclerosis and frontotemporal dementia (Multiplex Analysis of PolyA-linked Sequences)
Purpose: The purpose of this experiment is to identify a C9-ALS/FTD specific genomic profile in fibroblast lines that is distinct from sporadic ALS without C9orf72 expansion and non-neurologic control cells. The study will then evaluate the effect on this identified profile of ASO treatment targetin...
ORGANISM(S): Homo sapiens 
2013-11-12 | E-GEOD-51684 | biostudies-arrayexpress
UnknownRoadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit.
Not available
S-EPMC10630271 | biostudies-literature
GenomicsNeuronal polyunsaturated fatty acids are protective in FTD/ALS
Neuronal polyunsaturated fatty acids are protective in FTD/ALS
PRJNA1073517 | ENA
ProteomicsUBQLN2 Governs Lipid Metabolism Linked to Neurodegeneration in ALS/FTD
Missense mutations in UBQLN2, a protein quality control factor, are associated with neurodegenerative diseases amyotrophic lateral sclerosis (ALS) overlapping with frontotemporal dementia (FTD). The mechanisms by which these mutations lead to neurodegeneration are not fully understood. Here we descr...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2023-12-27 | MSV000093732 | MassIVE
TranscriptomicsDifferential Toxicity of Nuclear RNA Foci Versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS
Nuclear RNA foci are often associated with mis-regulation of RNA processing in repeat expansion diseases. Here we report transcriptomic analysis of flies carrying expanded G4C2 repeats, the most common genetic cause of FTD/ALS. By obtaining an average of 32 million reads per library, we show that th...
ORGANISM(S): Drosophila melanogaster 
2015-09-11 | E-GEOD-72771 | biostudies-arrayexpress
GenomicsDisruption of nuclear speckle integrity dysregulates RNA splicing in C9ORF72-FTD/ALS
Disruption of nuclear speckle integrity dysregulates RNA splicing in C9ORF72-FTD/ALS
PRJNA1043685 | ENA
ProteomicsALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ
Recently, we identified missense mutations in CCNF that are causative of familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). CCNF encodes for cyclin F, a substrate recognition component of an E3-ubiquitin ligase. Mutations in CCNF directly implicates disrupti...
ORGANISM(S): Homo sapiens (Human) 
2021-03-18 | PXD014163 | Pride
Bioid Ubiquitylation Proteomics Amyotrophic lateral sclerosis Frontotemporal dementia Paraspeckles Cyclin f Rbm14 Homeostasis 
GenomicsCharacterising day 90 human C9ORF72-ALS/FTD cerebral organoids at single cell level
Characterising day 90 human C9ORF72-ALS/FTD cerebral organoids at single cell level
PRJNA1100550 | ENA
GenomicsProfiling the genomic binding of DAXX in C9HRE ALS/FTD patient cells
Profiling the genomic binding of DAXX in C9HRE ALS/FTD patient cells
PRJNA925933 | ENA
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