Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease.

Polyglucosans are glycogen molecules with overlong chains, which are hyperphosphorylated in the neurodegenerative Lafora disease (LD). Brain polyglucosan bodies (PBs) cause fatal neurodegenerative diseases including Lafora disease and adult polyglucosan body disease (ABPD), for which treatments, biomarkers, and good understanding of their pathogenesis are currently missing. Mutations in the genes for the phosphatase laforin or the E3 ubiquitin ligase malin can cause LD.

Unraveling Crystal Phase-Driven Activity and Selectivity of WO for Photoelectrochemical Biomass Valorization.

Modulating the crystal phase of a photocatalyst significantly impacts its surface and photochemical properties, allowing for the adjustment of catalytic activity and selectivity, particularly in the electrooxidation reactions of biomass-derived chemicals. Herein, monoclinic and hexagonal phases of WO are employed as photoanodes for the photoelectrochemical conversion of 5-hydroxymethylfurfural (HMF) to 2,5-diformylfuran (DFF). The monoclinic phase demonstrated exceptional performance in photoelectrocatalytic HMF oxidation, achieving remarkable photocurrent densities (1.

Long-term neurobehavioral and neuroimaging outcomes in athletes with prior concussion(s) and head impact exposure.

The long-term health of former athletes with a history of multiple concussions and/or repetitive head impact (RHI) exposure has been of growing interest among the public. The true proportion of dementia cases attributable to neurotrauma and the neurobehavioral profile/sequelae of multiple concussion and RHI exposure among athletes has been difficult to determine. Across three exposure paradigms (i.

Distribution of Airway Findings in ANCA-Associated Vasculitis: A 20-Year Observational Analysis.

Pulmonary involvement is commonly observed in anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), presenting with manifestations such as diffuse alveolar hemorrhage, inflammatory infiltrates, pulmonary nodules, and tracheobronchial disease. We aimed to identify distinct subgroups of tracheobronchial disease patterns in patients with anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) using latent class analysis (LCA), and to evaluate their clinical characteristics and outcomes. We conducted a retrospective cohort study using electronic medical records of patients aged >18 years diagnosed with AAV and tracheobronchial disease between 1 January 2002 and 6 September 2022.

Effects of Route Complexity and Lighting on Route Following in Alzheimer's Disease and Posterior Cortical Atrophy.

Objective: Visual processing deficits arising in dementia are associated with particular functional disability. This study aimed to investigate the effects of the built environment on mobility and navigation in people with dementia-related visual loss.

Methods: Participants with posterior cortical atrophy (PCA; "visual-variant Alzheimer's"; n = 11), typical Alzheimer's disease (tAD; N = 10), and controls (n = 13) repeatedly walked down routes within a simplified real-world setting.