Medical Research
Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann–Pick disease type C1 miceThis work highlights the importance of CNS transduction for treatment of neurological diseases, a finding with significant clinical implications considering the long-lasting effects of gene therapy.
Negative correlation of single-cell PAX3:FOXO1 expression with tumorigenicity in rhabdomyosarcomaSingle-cell PAX3:FOXO1 expression in rhabdomyosarcoma is variable. PAX3:FOXO1 low cell states are characterized by more efficient adhesion, migration and tumor-propagating capacity.
TPC2 promotes choroidal angiogenesis and inflammation in a mouse model of neovascular age-related macular degenerationThis study identifies the endolysosomal two-pore channel TPC2 as a potential novel drug target for age-related macular degeneration (AMD). Inhibition of TPC2 reduces two key clinical hallmarks of the AMD, retinal inflammation and formation of leaky choroi.
Prognostic accuracy of MALDI-TOF mass spectrometric analysis of plasma in COVID-19High mortality rate in SARS-CoV-2–infected individuals requires accurate markers for predicting COVID-19 severity. MALDI-TOF analysis revealed differential plasma levels of SAA1 and SAA2 associated with higher risk of hospitalization and can be used to improve COVID-19 monitoring and therapy.
HCV poly U/UC sequence–induced inflammation leads to metabolic disorders in vulvar lichen sclerosisMulti-omics analysis reveals the elevation of HCV poly U/UC sequences, which induces abnormal inflammation and related metabolic disorder in vulvar lichen sclerosis.
DNA damage in embryonic neural stem cell determines FTLDs’ fate via early-stage neuronal necrosisDNA damage due to impairment of DNA damage repair functions in NSCs is carried over to neurons and triggers early-stage YAP-dependent neuronal necrosis (TRIAD) amplifying a chain of necrosis in FTLDs.
iNKT cells coordinate immune pathways to enable engraftment in nonconditioned hostsImmunotherapeutic iNKT cells interact with monocytes and T cells in human umbilical cord blood grafts to simultaneously limit inflammation while promoting hematopoietic activity.
The transcriptional landscape analysis of basal cell carcinomas reveals novel signalling pathways and actionable targetsBasal cell carcinoma (BCC) is the most common skin cancer and human malignancy. By analyzing BCC RNA sequencing data according to clinically important features, we identified novel differentially regulated genes and new targetable pathways. Several biomarkers were validated in patient-derived BCC samples.
Urinary prostaglandin E2 as a biomarker for recurrent UTI in postmenopausal womenThis work uses controlled human cohorts to investigate urinary prostaglandin E2, the product of cyclooxygenase-2, as both a diagnostic and prognostic biomarker of recurrent UTI postmenopausal women.
MALDI-IMS combined with shotgun proteomics identify and localize new factors in male infertilityIn situ proteomics of male infertility.