The potent combination of CRISPR/Cas9 and zebrafish as a model organism offers enormous potential for research into human diseases caused by point mutations. Three new articles published in Disease Models & Mechanisms use zebrafish to explore how advances in CRISPR/Cas9 optimisation offer a new level of accuracy and specificity previously out of reach for research into this type of human genetic disorder.
TMDU-led Japanese research revealed a role for splicing proteins in the pathology of Alzheimer's disease. Increased phosphorylation of the SRRM2 protein, seen in AD mouse models and human patients, was found to block its transport to the nucleus. This reduced levels of the PQBP1 protein, causing abnormal changes to the splicing of synapse genes and cognitive decline. These phenotypes were reversed by restoring PQBP1 function, suggesting a possible future treatment for AD.
Research has shown that mistakes in 'proofreading' the genetic code of retinal cells is the cause of a form of inherited blindness, retinitis pigmentosa (RP) with splicing factor defects, which affects up to 2.5 million people worldwide.
Many breast cancer drugs block estrogen receptors inside cancer cells. Blocking the receptors early in disease progression staves off metastasis. But most patients with advanced disease eventually develop drug resistance, leaving doctors desperate for alternatives. Now, researchers from Case Western Reserve University School of Medicine have uncovered a previously uncharacterized, bridge-like structure within the human estrogen receptor that could serve as a valuable new drug target.
In a new study that ultimately analyzed the genomes of nearly a quarter of a million men, a research team including UC San Francisco scientists has discovered that variants at a single site on Chromosome 6 are associated with a significantly higher risk of developing erectile dysfunction (ED).
In two newly published papers, a scientific team at Case Western Reserve University School of Medicine reports on the discovery and implementation of a new, more efficient method for generating an important brain stem cell in the laboratory. The findings pave the way for greater understanding of the underlying mechanisms of neurological disorders of myelin and ultimately, possible new treatment and prevention options. The studies were published in the September issues of Nature Communications and Stem Cell Reports.
A new screening process could dramatically accelerate the identification of nanoparticles suitable for delivering therapeutic RNA into living cells. The technique would allow researchers to screen hundreds of nanoparticles at a time, identifying the organs in which they accumulate -- and verifying that they can successfully deliver an RNA cargo into living cells.
A single leukemia cell, unknowingly engineered with the leukemia-targeting chimeric antigen receptor (CAR) lentivirus and infused back into a patient, was able to reproduce and cause a deadly recurrence of B-cell acute lymphoblastic leukemia (ALL).
Massachusetts General Hospital researchers have found that a special type of cell essential to the ability of olfactory neurons to regenerate may be genetically engineered to deliver anticancer therapy to the dangerous brain tumors called glioblastomas.
In the largest DNA sequencing study of Tourette Disorder (TD) to date, UC San Francisco researchers and their collaborators have unearthed new data suggesting a potential role for disruptions in cell polarity in the development of this condition.