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Transposable Elements in Frontotemporal Lobar Degeneration

ABSTRACT: Transposable Elements in Frontotemporal Lobar Degeneration

PROVIDER: PRJNA561866 | ENA |

REPOSITORIES: ENA

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Transposable Elements in Frontotemporal Lobar Degeneration

Project description:Transposable Elements in Frontotemporal Lobar Degeneration

| PRJNA561865 | ENA

Alterations in single-cell transcriptomic levels and cellular localisation of hnRNP proteins in Frontotemporal Lobar Degeneration

Project description:Frontotemporal dementia (FTD) is a neurodegenerative disorder with a strong heritable component. Frontotemporal lobar degeneration (FTLD) refers to the pathological changes seen in FTD, characterised by atrophy of the frontal and temporal lobes and the presence of abnormal protein inclusions. In the case of FTLD with hyperphosphorylated TDP-43 positive inclusions (FTLD-TDP), five pathological subtypes (A, B, C, D, and E) are observed based on the types and distribution of inclusions found in the brain. In all subtypes, there tends to be a large variability in the amount of pathological inclusions observed between cases, with limited correlation to clinical manifestations. TDP-43 is an RNA binding protein belonging to the heterogeneous nuclear ribonucleoprotein (hnRNP) family which along with other hnRNPs modulates multiple aspects of RNA processing. HnRNPs other than TDP-43 have been implicated in several neurological diseases, including ALS, FTLD-TDP, FTLD-FUS and Alzheimer's disease. Multiple hnRNPs have been found in pathological inclusions in specific subtypes of FTLD-TDP, suggesting potential roles in the disease process. The role of the hnRNP network in FTLD disease pathogenesis has not yet been investigated. This study aimed to comprehensively evaluate the presence and expression of hnRNP proteins in two pathological subtypes of sporadic FTLD-TDP (A and C) as well as the genetic form FTLD-TDP A C9orf72 using immunohistochemistry and gene expression analysis by single cell RNA-sequencing. We sought to determine whether hnRNPs exhibited aberrant expression at the protein and transcript level in FTLD cases with TDP-43 pathology.

2026-03-02 | GSE288106 | GEO

Alterations in single-cell transcriptomic levels and cellular localisation of hnRNP proteins in Frontotemporal Lobar Degeneration

Project description:Alterations in single-cell transcriptomic levels and cellular localisation of hnRNP proteins in Frontotemporal Lobar Degeneration

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TGF-β signaling promotes astroglial activation and TDP-43 proteinopathy in organoid models of frontotemporal lobar degeneration

Project description:TGF-β signaling promotes astroglial activation and TDP-43 proteinopathy in organoid models of frontotemporal lobar degeneration

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Rescue of TDP-43 and neuronal pathologies by peripheral AAV-mediated expression of brain-penetrant progranulin in a mouse model of GRN-linked frontotemporal lobar degeneration

Project description:Progranulin (PGRN) haploinsufficiency is a major risk factor for Frontotemporal Lobar Degeneration with TDP-43 pathology (FTLD-TDP). Protein replacement therapeutic strategies are currently in clinical development, intended to restore PGRN levels in the central nervous system and slow or halt disease progression. However, such approaches require repeated dosing. Here, we explored the use of adeno-associated virus (AAV) to achieve sustained expression of a brain penetrant PGRN fusion protein, composed of a single chain variable fragment (scFv) recognizing mouse transferrin receptor (TfR) fused to human PGRN (AAV(L):bPGRN). We evaluated this approach for its ability to rescue pathological phenotypes in a double knockout mouse model lacking both PGRN and TMEM106b. A single administration of AAV(L):bPGRN reduced FTLD-TDP associated pathologies including severe motor function deficits, formation of insoluble, abnormally processed and phosphorylated TDP-43, as well as dysfunctional protein degradation, lipid dysregulation and gliosis.

2023-07-16 | GSE235515 | GEO

Genetics of frontotemporal lobar degeneration.

Project description: Not available

| S-EPMC3039162 | biostudies-literature

Frontotemporal Lobar Degeneration and MicroRNAs.

Project description: Not available

| S-EPMC4746266 | biostudies-literature

A Study of Small RNAs from Cerebral Neocortex of Pathology-Verified Alzheimer’s Disease, Dementia with Lewy Bodies, Hippocampal Sclerosis, Frontotemporal Lobar Dementia, and Non-Demented Human Controls

Project description:MicroRNAs (miRNAs) are small (20-22 nucleotides) regulatory non-coding RNAs that strongly influence gene expression. Most prior studies addressing the role of miRNAs in neurodegenerative diseases (NDs) have focused on individual controls (n = 2), AD (n = 5), dementia with Lewy bodies (n = 4), hippocampal sclerosis of aging (n = 4), and frontotemporal lobar dementia (FTLD) (n = 5) cases, together accounting for the most prevalent ND subtypes. All cases had short postmortem intervals, relatively high-quality RNA, and state-of-the-art neuropathological diagnoses. The resulting data (over 113 million reads in total, averaging 5.6 million reads per sample) and secondary expression analyses constitute an unprecedented look into the human cerebral cortical miRNome at single nucleotide resolution. While we find no apparent changes in isomiR or miRNA editing patterns in correlation with ND pathology, our results validate and extend previous miRNA profiling studies with regard to quantitative changes in NDs. In agreement with this idea, we provide independent cohort validation for changes in miR-132 expression levels in AD (n = 8) and FTLD (n = 14) cases when compared to controls (n = 8). The identification of common and ND-specific putative novel brain miRNAs and/or short-hairpin molecules is also presented. The challenge now is to better understand the impact of these and other alterations on neuronal gene expression networks and neuropathologies. Using RNA deep sequencing, we sought to analyze in detail the small RNAs (including miRNAs) in the temporal neocortex gray matter from non-demented controls (n = 2), AD (n = 5), dementia with Lewy bodies (n = 4), hippocampal sclerosis of aging (n = 4), and frontotemporal lobar dementia (FTLD) (n = 5) cases, together accounting for the most prevalent ND subtypes.

2013-04-18 | E-GEOD-46131 | biostudies-arrayexpress

Transposable elements study for Fritillaria imperialis

Project description:Transposable elements study for Fritillaria imperialis

| PRJEB104641 | ENA

TDP-43 forms amyloid filaments with a distinct fold in type A FTLD-TDP

Project description:TDP-43, amyloid, filament, fibril, protein aggregation, neurodegenerative disease, neurodegeneration, dementia, frontotemporal dementia, frontotemporal lobar degeneration, citrullination, methylation, brain

2023-08-25 | PXD040102 | Pride

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