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MetabolomicsLipidomic analysis of human brain from frontotemporal dementia cases of with GRN and C9orf72 mutations
Not available
ORGANISM(S): Homo sapiens 
ST002452 | MetabolomicsWorkbench
TranscriptomicsGenome-wide DNA methylation analysis identifies epigenetic differences in Alzheimer’s disease and frontotemporal dementia in brain tissue and lymphoblastoid cell lines
We have performed methylation microarray analysis of two types of dementia, Alzheimer's disease (AD) and frontotemporal dementia (FTD), using two kind of samples, frozen brain tissue and lymphoblastoid cell lines.
ORGANISM(S): Homo sapiens 
2024-01-01 | E-MTAB-11975 | biostudies-arrayexpress
TranscriptomicsInduced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects.
Multiple FTD patient-specific iPSC lines were generated for the first time, Human neurons of progranulin haploinsufficiency have been established. PGRN S116X neurons are more sensitive to kinase inhibitors-induced cell stress, which can be rescued by ectopic progranulin expression, revealing progran...
ORGANISM(S): Homo sapiens 
2012-10-25 | E-GEOD-40378 | biostudies-arrayexpress
ProteomicsPathogenic human tau in the Line 66 model of frontotemporal dementia
Transgenic human tau in subcellular fractions extracted after electrophoresis of L66 mouse brain extract. For higher sequence coverage trypsin (Tr) and thermolysin (TL) digests were analysed.
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) Mus Musculus (ncbitaxon:10090) 
2020-08-13 | MSV000085945 | MassIVE
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
ProteomicsGENETIC SUBTYPE- AND CELL TYPE-SPECIFIC PROTEIN SIGNATURES IN FRONTOTEMPORAL DEMENTIA
Frontotemporal dementia is characterized by progressive atrophy of frontal and/or temporal cortices and an early age of onset. The disorder is highly heterogenic, comprising several genetic causes as well as a diverse phenotypic landscape of sporadic cases. Here we investigated the proteomic signatu...
ORGANISM(S): Homo sapiens (Human) 
2023-03-10 | PXD022872 | Pride
Frontotemporal dementia  c9orf72  grn  mapt  human brain proteomics 
ProteomicsIdentification of novel CSF biomarkers in GRN-associated frontotemporal dementia by proteomics
Frontotemporal dementia is the second most common form of presenile dementia and autosomal dominant inheritance is present in 20-30% of cases, with mutations in granulin (GRN) as a major cause. The exact pathophysiological mechanism by which GRN mutations lead to neurodegeneration is poorly understo...
ORGANISM(S): Homo sapiens (Human) 
2019-04-30 | PXD012178 | Pride
Proteomics Mass spectrometry Frontotemporal dementia Biomarkers Progranulin 
ProteomicsIdentification of novel CSF biomarkers in GRN-associated frontotemporal dementia by proteomics
Frontotemporal dementia is the second most common form of presenile dementia and autosomal dominant inheritance is present in 20-30% of cases, with mutations in granulin (GRN) as a major cause. The exact pathophysiological mechanism by which GRN mutations lead to neurodegeneration is poorly understo...
ORGANISM(S): Homo sapiens (Human) 
2019-04-29 | PXD012179 | Pride
Proteomics Prm Mass spectrometry Frontotemporal dementia Biomarkers Progranulin 
TranscriptomicsC9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD
Noncoding expansions of a hexanucleotide repeat (GGGGCC) in the C9orf72 gene are the most common cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. Here we report transgenic mice carrying a bacterial artificial chromosome (BAC) containing the full human C9orf72 gene with ei...
ORGANISM(S): Mus musculus 
2016-02-10 | E-GEOD-77720 | biostudies-arrayexpress
TranscriptomicssmRNA-sequencing of human post-mortem brain tissue of the frontal lobe from patients with Frontotemporal Dementia and healthy controls
Understanding the molecular mechanisms underlying frontotemporal dementia (FTD) is essential for the development of successful therapies. Systematic studies on human post-mortem brain tissue of patients with genetic subtypes of FTD are currently lacking. The Risk and Modyfing Factors of Frontotempor...
ORGANISM(S): Homo sapiens 
2023-02-26 | E-MTAB-12731 | biostudies-arrayexpress
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