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Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality

Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes the identification of potential biomarkers and therapeutic targets. Here we identify PSMF1 as a gene implicated in parkinsonism and childhood neurodegeneration. We find that biallelic PSMF1 missense and loss-of-function variants co-segregate with phenotypes from early-onset PD to perina...

CryAB-driven amyloidogenesis in Drosophila muscle engages extracellular vesicle pathways for cellular release

Mutations in the small heat shock protein alpha-crystallin B (CryAB) result in cataracts, cardiomyopathies, and myofibrillar myopathies (MFMs), all of which are marked by protein aggregation. To investigate pathological mechanisms, we expressed four human CryAB disease alleles in Drosophila skeletal muscle. All variants resulted in the accumulation of protein aggregates. Mutations within the conserved alpha-crystallin domain (ACD) caused CryAB-positive structures that colocalized with an amyl...

Implementation and effectiveness of the WHO Self-Help Plus (SH+) intervention in the Gaza Strip: a prospective hybrid type 1 non-randomised study

Background Self Help Plus (SH+) is a WHO intervention that provides strategies for managing distress arising from adversity. In the Palestinian context, SH+ holds promise in supporting psychological well-being and mitigating the impact of trauma, with the critical challenge in adapting and scaling the intervention for feasible and sustainable delivery. Methods This is the piloting phase of a prospective hybrid type-1 non-randomised follow-up study investigating the implementability and effect...

Predictive processes linking sense of agency and fatigue: a novel allostatic framework

The sense of agency and the experience of fatigue are usually treated as separate constructs: one concerning perceived control over action, the other reflecting subjective energetic state. However, both rely on how the brain predicts, evaluates, and updates information about the body and its actions. Despite this conceptual proximity, the two phenomena have rarely been examined together, and no unified framework currently explains why changes in perceived control and perceived effort so often...

AIUTI DI STATO ILLEGALI E TUTELA GIURISDIZIONALE

Il saggio esamina il tema degli aiuti di Stato e il rapporto tra Commissione e giudici nazionali. La Commissione ha il compito di valutare la compatibilità dell’aiuto con il mercato comune, i giudici nazionali fanno rispettare l’obbligo di standstill di cui all’art. 108.3, ultimo periodo, TFUE, esaminando la questione pregiudiziale, concernente la qualificazione della misura come aiuto di Stato, senza potersi, però, sostituire nel giudizio tecnico di compatibilità, riservato alla Commiss...

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