Degeneration of photoreceptors in the retina is a major cause of blindness in humans. Often retinal degeneration is due to inheritance of mutations in genes important in photoreceptor (PR) function, but can al…

Mutations in the EPM2A gene encoding a dual-specificity phosphatase (Laforin) cause an autosomal recessive fatal disorder called Lafora’s disease (LD) classically described as an adolescent-onset stimulus sensitive myoclonus, epilepsy and neurologic deterioration [1]. Skin biopsy reveals Lafora bodies (LB), which are pathognomonic and not seen with any other progressive myoclonus epilepsies.… Read More...

Intracerebral hemorrhage affects approximately 2million individuals per year. While the incidence is roughly equal in men and women, few studies have examined the influence of sex on secondary injury and associated long-term functional outcomes. Matrix metalloproteinases (MMPs) promote vessel rupture and worsen outcomes by potentiating blood-brain barrier breakdown after injury.… Read More...

Du et al. detail how a novel transcription factor, α1ACT, orchestrates postnatal cerebellar development, a finding highly relevant to loss-of-function CACNA1A genetic developmental disorders. The role of α1ACT wanes in adulthood, paving the way for its safe suppression to treat gain-of-function mutations.… Read More...

Feng et al. develop and validate a pair of genetically encoded GPCR-activation-based norepinephrine sensors, which, for the first time, enable specific in vivo measurement of norepinephrine dynamics during stressful behaviors with high spatiotemporal resolution in zebrafish and mice.

Multiple Sclerosis Journal, Ahead of Print.

Multiple Sclerosis Journal, Ahead of Print.

Multiple Sclerosis Journal, Ahead of Print.

Abstract

Massive parallel sequencing recently allowed the identification of three genes carrying a higher burden of rare, protein-truncating and missense predicted damaging variants in Alzheimer disease (AD) cases as compared to controls: TREM2, SORL1, and ABCA7. SORL1 encodes SorLA, a key protein involved in the processing of the amyloid-beta (Aβ) precursor protein (APP) and the secretion of the Aβ peptide, the aggregation of which triggers AD pathophysiology.… Read More...

Multiple Sclerosis Journal, Ahead of Print.