OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.

Mutations in OCRL encoding the inositol polyphosphate 5-phosphatase OCRL (Lowe oculocerebrorenal syndrome protein) disrupt phosphoinositide homeostasis along the endolysosomal pathway causing dysfunction of the cells lining the kidney proximal tubule (PT). The dysfunction can be isolated (Dent disease 2) or associated with congenital cataracts, central hypotonia and intellectual disability (Lowe syndrome). The mechanistic understanding of Dent disease 2/Lowe syndrome remains scarce due to limitations of animal models of OCRL deficiency.

Association of Occupational and Leisure-Time Physical Activity with Aerobic Capacity in a Working Population.

Introduction: Objective data on the association of maximal aerobic capacity (VO2max) with work related physical activity are sparse. Thus, it is not clear whether occupational physical activity (OPA) contributes to an increase of VO2max. This study examined the association of VO2max with work and non-work related physical activity in a Swiss working population.

Physical Workload and Work Capacity across Occupational Groups.

This study aimed to determine physical performance criteria of different occupational groups by investigating physical activity and energy expenditure in healthy Swiss employees in real-life workplaces on workdays and non-working days in relation to their aerobic capacity (VO2max). In this cross-sectional study, 337 healthy and full-time employed adults were recruited. Participants were classified (nine categories) according to the International Standard Classification of Occupations 1988 and merged into three groups with low-, moderate- and high-intensity occupational activity.

Impaired explorative behavior and neophobia in genetically modified mice lacking or overexpressing the extracellular serine protease inhibitor neuroserpin.

Neuroserpin is a neural serpin that inhibits the extracellular protease tissue-type plasminogen activator (tPA). We have generated neuroserpin-deficient mice which are viable and healthy. Zymographic analysis of neuroserpin-deficient brain showed unaltered tPA activity, suggesting that other inhibitors contribute to the regulation of tPA and may compensate for the defect.