Mutation in the Parkinson’s Gene DJ-1 Derails Splicing
Restoring proper gene editing assuaged mitochondrial defects in patient-derived neurons and organoids. Splicing errors may underlie other PD cases as well.
NEWS
Micro Nudge? Positive Phase 2 Results for ALS Combination Drug
AMX0035, a mix of sodium phenylbutyrate and taurursodiol, slowed functional decline over six months by about as much as the approved ALS drug edaravone.
In ALS and FTD, Two Different Routes to TDP-43 Aggregation
A C9ORF72 polydipeptide repeat induces aggregation by direct interaction with TDP-43, while progranulin mutations that trigger microglial toxicity cause TDP-43 to accumulate via complement.
Peter Davies, Beloved Giant of Alzheimer’s Disease Research, Dies at 72
In a career spanning four decades, Davies spearheaded the cholinergic hypothesis, unlocked secrets of tau, and readily shared antibodies in the field.
CPTX—A Synaptic “Glue” Restores Memory in Alzheimer’s Model
The designer chimera stabilizes synapses in various mouse models of neurodegenerative disease.
IFITM3 Forges Link Between Neuroinflammation and Aβ Production
The antiviral protein enhances γ-secretase processing of APP. More of it is present in Alzheimer’s disease.
Global Genetics Symposium Starts Today
Three weeks of on-demand seminars to culminate in live Q&A.
First Primate Model of Familial AD: Marmosets with Presenilin Mutation
Three young monkeys missing exon 9 of presenilin 1 seem to have an elevated Aβ42/40 ratio. It remains to be seen if they will develop plaques and tangles as they age.
Virtual Exhibit Hall
Alzforum encourages users to visit the Virtual Exhibit Hall, where companies showcase their newest initiatives, products, and services. We welcome F. Hoffmann-La Roche, joining our other exhibitors — Biogen, BioLegend, Abcam, BrainXell, and the Jackson Laboratory.
SPOTLIGHT
Shunned Exon Underlies Familial Parkinson’s
A missense mutation in the DJ-1 gene that causes Parkinson’s disease inflicts its damage by derailing the splicing machinery, according to a new study. Researchers found that a single base pair mutation disrupts binding of the U1 snRNA—a key part of the spliceosome—to the freshly transcribed RNA. The splicesome skips exon 3 and the transcript produces little protein. A drug cocktail got splicing back on track, and even spared dopaminergic neurons in an organoid model.
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