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Items: 4

1.

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

(Submitter supplied) No treatment for frontotemporal dementia (FTD), the second most common type of early-onset dementia, is available, but therapeutics are being investigated to target the 2 main proteins associated with FTD pathological subtypes: TDP-43 (FTLD-TDP) and tau (FTLD-tau). Testing potential therapies in clinical trials is hampered by our inability to distinguish between patients with FTLD-TDP and FTLD-tau. Therefore, we evaluated truncated stathmin-2 (STMN2) as a proxy of TDP-43 pathology, given the reports that TDP-43 dysfunction causes truncated STMN2 accumulation. Truncated STMN2 accumulated in human induced pluripotent stem cell–derived neurons depleted of TDP-43, but not in those with pathogenic TARDBP mutations in the absence of TDP-43 aggregation or loss of nuclear protein. In RNA-Seq analyses of human brain samples from the NYGC ALS cohort, truncated STMN2 RNA was confined to tissues and disease subtypes marked by TDP-43 inclusions. Last, we validated that truncated STMN2 RNA was elevated in the frontal cortex of a cohort of patients with FTLD-TDP but not in controls or patients with progressive supranuclear palsy, a type of FTLD-tau. Further, in patients with FTLD-TDP, we observed significant associations of truncated STMN2 RNA with phosphorylated TDP-43 levels and an earlier age of disease onset. Overall, our data uncovered truncated STMN2 as a marker for TDP-43 dysfunction in FTD.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platforms:
GPL16791 GPL24676
1838 Samples
Download data: TXT
2.

NYGC ALS Consortium data

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below. Consortium contacts: Maria Pedersen: [email protected] Hemali Phatnani: [email protected] NYGC ALS Consortium: [email protected]
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing; Other
Platforms:
GPL16791 GPL24676
2646 Samples
Download data: TXT
Series
Accession:
GSE137810
ID:
200137810
3.

Illumina HiSeq 2500 (Homo sapiens)

Platform
Accession:
GPL16791
ID:
100016791
4.

post-mortem tissue [CGND-HRA-00267]

Organism:
Homo sapiens
Source name:
Spinal Cord Cervical
Platform:
GPL16791
Series:
GSE137810 GSE153960
Download data
Sample
Accession:
GSM4659399
ID:
304659399
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