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Frontotemporal dementias are neuropathologically characterized by frontotemporal lobar degeneration (FTLD). Intraneuronal inclusions of transactive response DNA-binding protein 43 kDa (TDP-43) are the defining pathologic hallmark of approximately half of the FTLD cases, being referred to as FTLD-TDP...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2022-04-12 | MSV000089242 | MassIVE
UNC13A features a cryptic exon which is expressed upon loss of nuclear TDP-43. Here, we perform targeted RNA-seq on RNA extracted from 10 FTLD-TDP brain samples, and four control samples, enriching for the cryptic exon via nested PCR. Each FTLD-TDP sample is heterozygous for rs12973192. There are t...
ORGANISM(S): Homo sapiens 
FTLD-U is the most common pathological correlate of the neurodegenerative dementia frontotemporal dementia; We used microarrays to perform global expression profiling of FTLD-U brain samples Experiment Overall Design: Postmortem brain samples were isolated from normal controls, FTLD-U patients with ...
ORGANISM(S): Homo sapiens 
A mild olfactory dysfunction has been observed in frontotemporal dementias (FTD). However, the underlying molecular mechanisms associated to this deficit are poorly understood. Here, we applied mass spectrometry-based quantitative proteomics to analyse pathological effects on the olfactory bulb (OB)...
ORGANISM(S): Homo sapiens (Human) 
2022-02-15 | PXD011446 | Pride
Using a high-end mass spectrometry, we screened phosphoproteins and phosphopeptides in five types of Alzheimer's disease (AD) mouse models (5xFAD, APP-tg, PS1-tg, PS2-tg and APP-KI) and four types of frontotemporal lobar degeneration (FTLD) mouse models(CHMP2B-KI, PGRN-KI, VCP-KI and TDP43-KI) at m...
ORGANISM(S): Mus musculus (Mouse) 
2021-09-07 | PXD027119 | Pride
Accumulation of abnormally phosphorylated TDP-43 (pTDP-43) is the main pathological finding characterizing affected neurons in most patients with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). At least four different subtypes of FTLD-TDP have been described, based ...
ORGANISM(S): Homo sapiens (Human) 
2018-10-10 | PXD007873 | Pride
RNA extracted from human frontal cortex area 8, the main area afected in FTLD, of controls (n=10), sporadic FTLD-TDP (sFTLD) (n=10) and C9ORF72-familial FTLD (fFTLD) (n=10) samples were analyzed using the Affymetrix Clariom™ D Assay, human (Affymetrix ref.902923). The present study identifies the ma...
ORGANISM(S): Homo sapiens 
Neuronal VCP loss of function recapitulates FTLD-TDP pathology
RNA transcriptomic and DNA methylation landscape in FTLD-TDP and controls
RNA transcriptomic and DNA methylation landscape in FTLD-TDP and controls
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