Collectively, lysosomal storage disorders (LSDs) are caused by malfunctions in metabolic enzymes in the lysosome system. Depending on which enzyme is missing, toxic metabolites accumulate. While the LSDs are highly heterogenous – even within one disease, presentation can vary widely – neurodegeneration is a common feature in these disorders.
Parasitic worms, or helminths, are a major global health issue. At the same time, "parasites have been a prolific area of biomedical research to emerge," De'Broski Herbert told his audience at the 2021 annual meeting of the American Association of Immunologists.
The discovery of synthetic lethality between BRCA mutations and PARP inhibitors ranks has led to major advances in the treatment of BRCA-mutated cancers. Mutations in BRCA1 and BRCA2 can leave cells with a deficiency in homologous repair (HR). And that deficiency can make them vulnerable to PARP inhibitors, which block alternate DNA repair pathways, as well as platinum-based treatment, which induces DNA mutations that BRCA-deficient cells are unable to cope with.
With Monday's announcement that the U.S. FDA has expanded emergency use authorization for Pfizer and BioNtech's COVID-19 vaccine, Comirnaty (tozinameran), to include adolescents 12 through 15 years of age, and the EMA expected to follow suit in short order, the COVID vaccination campaign is expanding its age range.
The discovery of synthetic lethality between BRCA mutations and PARP inhibitors ranks has led to major advances in the treatment of BRCA-mutated cancers.
Using the roundworm C. elegans as a "living test tube," researchers at the University of Florida have identified specific gut bacteria that promoted protein misfolding throughout the body, as well as others that were protective.
An international collaborative study led by scientists at Sweden’s Lund University has classified Alzheimer’s disease into four distinct subtypes, which has important implications for the management of the progressive neurodegenerative disease, the authors reported in the April 29, 2021, edition of Nature Medicine.
New genome editing techniques have opened up the number of potential mutations that could be addressed in the inherited muscle wasting disorder Duchenne muscular dystrophy, while also reducing the probability of inducing off target effects.
Using advanced intravital microscopy to visualize immune cell movement within the tissues, investigators at the Peter Doherty Institute for Infection and Immunity, Melbourne have discovered that noradrenaline causes a dramatic paralysis of immune cell movement.
Using advanced intravital microscopy to visualize immune cell movement within the tissues, investigators at the Peter Doherty Institute for Infection and Immunity, Melbourne have discovered that the neurotransmitter noradrenaline produced by the sympathetic nervous system causes a dramatic paralysis of immune cell movement.