Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Inherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci account for the majority of molecular diagnoses, other genes associated with IRD await molecular identification. In this study, we uncover bi-allelic assortments of 23 different (22 loss-of-function) variants in AP5Z1, AP5M1, and AP5B1 as independent causes of recessive IRD in members of 19 families from nine countries.

Rural territories in socio-environmental crisis: Challenges and opportunities for building sustainable schools and communities in Chile.

The Chilean model of economic development, based on the extraction of natural resources, has had significant environmental and social impacts on the country, especially in rural areas. The research project "Towards the construction of sustainable schools and communities in rural areas in socio-environmental crises" studies the interaction between the unregulated exploitation of natural resources, the resulting socio-environmental crises and the responses of schools and communities in the affected rural areas. Based on a documentary and socio-bibliometric approach, identifying the main issues and research gaps related to the socio-environmental crises in the selected territories.

Assessment of neuronal and glial serum biomarkers in myelin oligodendrocyte glycoprotein antibody-associated disease: the MULTIMOGAD study.

Background: Serum neurofilament light chain (sNfL) and serum glial fibrillary acidic protein (sGFAP) have emerged as important biomarkers in multiple sclerosis (MS) and aquaporin-4 seropositive neuromyelitis optica spectrum disorder (AQP4-NMOSD). However, their interest in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) remains unclear. Our aim was to characterise sNfL and sGFAP profile and analyse their usefulness in predicting relapses and disability in MOGAD.

A protein corona modulates the function of mineralization-competent matrix vesicles.

Mineralizing cells release a special class of extracellular vesicles known as matrix vesicles (MV), crucial for bone mineralization. Following their release, MV anchor to the extracellular matrix (ECM), where their highly specialized enzymatic machinery facilitates the formation of seed mineral within the MV's lumen, subsequently releasing it onto the ECM. However, how MV propagate mineral onto the collagenous ECM remains unclear.

Lipid Oxidation at the Crossroads: Oxidative Stress and Neurodegeneration Explored in .

Lipid metabolism plays a critical role in maintaining cellular integrity, especially within the nervous system, where lipids support neuronal structure, function, and synaptic plasticity. However, this essential metabolic pathway is highly susceptible to oxidative stress, which can lead to lipid peroxidation, a damaging process induced by reactive oxygen species. Lipid peroxidation generates by-products that disrupt many cellular functions, with a strong impact on proteostasis.