Institution
Innsbruck Medical University
Recent research
- BiologyOpen access
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome
Abstract Background Pathogenic variants in AGO2 ,encoding a central component of the RNA-induced silencing complex (RISC), cause the neurodevelopmental disorder Lessel-Kreienkamp syndrome (LESKRES). The variant spectrum and associated molecular mechanisms underlying phenotypic va...
- Health & MedicineOpen access
Lipidomics-guided screening of unexplored natural product chemical space provides access to small molecules that globally reprogram cellular lipid profiles. Here, we show that the meroterpenoid cyclosmenospongine from Spongia sp. reshapes immune cell lipidomes, shifting them from...
- Health & MedicineOpen access
The Tyrolean Founder MLH1 Variant c.836T>G Causes Lynch Syndrome Due to a Leaky Splice Effect
The identification of a pathogenic variant (PV) in one of the mismatch repair (MMR) genes confirms the diagnosis of Lynch syndrome (LS). Hence, the correct classification of MMR gene variants is of utmost importance for appropriate counselling, surveillance, and treatment of LS p...
- BiologyOpen access
Background Spinocerebellar Ataxia 27B (SCA27B) is a novel, frequent and likely treatable late-onset autosomal-dominant ataxia caused by GAA repeat-expansions in FGF14 . For understanding disease evolution and imminent trial planning, metrics of the most widely used clinical outco...
- Health & MedicineOpen access
Histological aging signatures for monitoring tissue-specific aging and disease
Aging is the primary risk factor for chronic disease and is characterized by profound structural and architectural remodeling of human tissues. Here, we present a comprehensive assessment of these changes using 25,712 whole-slide histopathological images from 40 tissue types acro...
- BiologyOpen access
Peripheral lysosomes recruit PLEKHG3 to focal adhesions and restrain protrusion dynamics
Lysosomes are dynamic organelles regulating metabolic signaling by recruiting cytosolic molecules to protein platforms on their limiting membrane. We used proximity labeling to define interactors and vicinal proteins of LAMTOR3, a component of the Ragulator scaffold that controls...
- Health & MedicineOpen access
Radiomics for risk stratification in brain metastases: potential in melanoma brain metastases
The identification of quantitative non-invasive imaging biomarkers, including radiomics, may complement molecular characterization and thereby improve clinical management of neuro-oncological patients. We aimed to identify imaging predictors with improved performance over clinica...
- Engineering & TechnologyOpen access
Abstract Background Sevoflurane and desflurane are routinely used volatile anaesthetics in balanced general anaesthesia, but their elimination time from the human body may be underestimated. Methods Levels of sevoflurane and desflurane in end-tidal exhaled breath and ambient room...