@evanudine.bsky.social
Neuroscience PhD Candidate | Mayo Clinic Jacksonville
Reposted
Our paper just came out in Cell Reports, thank you to everyone that contributed! Differential neuronal vulnerability to C9orf72 repeat expansion driven by Xbp1-induced endoplasmic reticulum-associated degradation: Cell Reports www.cell.com/cell-reports...
Differential neuronal vulnerability to C9orf72 repeat expansion driven by Xbp1-induced endoplasmic reticulum-associated degradation
C9orf72 repeat expansion, a leading cause of ALS/FTD, triggers selective neuronal
death. Using a Drosophila model, Shen et al. identified vulnerable and resistant neuronal
populations. Resistance corr...
www.cell.com
April 8, 2025 at 8:12 PM
Our paper just came out in Cell Reports, thank you to everyone that contributed! Differential neuronal vulnerability to C9orf72 repeat expansion driven by Xbp1-induced endoplasmic reticulum-associated degradation: Cell Reports www.cell.com/cell-reports...
Reposted
We are happy to share our latest paper where we performed genome-wide association studies (GWAS) of 11 different neuropathological outcomes in a large series of Lewy body disease (LBD) cases. Big thanks to all our collaborators!
Genome-wide association study of neuropathological features in Lewy body disease
Valentino et al. present the results of a GWAS of 11 different neuropathological outcomes in 1483 Lewy body disease (LBD) cases. The APOE ε4 allele was ass
academic.oup.com
March 18, 2025 at 1:55 PM
We are happy to share our latest paper where we performed genome-wide association studies (GWAS) of 11 different neuropathological outcomes in a large series of Lewy body disease (LBD) cases. Big thanks to all our collaborators!
Reposted
Ecstatic to see our paper "Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing" now published in @naturegenet.bsky.social with @trajnp.bsky.social and @panosroussos.bsky.social @sinaibrain.bsky.social www.nature.com/articles/s41...
Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing - Nature Genetics
This isoform-centric microglia genomic atlas includes 35,879 novel human microglia isoforms identified by long-read RNA sequencing. A multi-ancestry quantitative trait locus meta-analysis of known and...
www.nature.com
March 4, 2025 at 5:47 PM
Ecstatic to see our paper "Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing" now published in @naturegenet.bsky.social with @trajnp.bsky.social and @panosroussos.bsky.social @sinaibrain.bsky.social www.nature.com/articles/s41...
Reposted
Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion by @evanudine.bsky.social using @pacbio.bsky.social molecularneurodegeneration.biomedcentral.com/articles/10....
Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion - Molecular Neurodegeneration
Background The gene C9orf72 harbors a non-coding hexanucleotide repeat expansion known to cause amyotrophic lateral sclerosis and frontotemporal dementia. While previous studies have estimated the len...
molecularneurodegeneration.biomedcentral.com
December 30, 2024 at 8:01 PM
Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion by @evanudine.bsky.social using @pacbio.bsky.social molecularneurodegeneration.biomedcentral.com/articles/10....