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Andrew Crosby, David Silver and colleagues show that a partially inactivating mutation in MFSD2A causes a non-lethal microcephaly syndrome with symptoms that include intellectual disability, spasticit...
Joseph Gleeson, David Silver and colleagues show that inactivating mutations in MFSD2A, which encodes an essential transporter of long-chain fatty acids in brain, cause a lethal microcephaly syndrome....
(University of Alberta) The largest-ever MRI imaging study of stuttering is the first to examine brain changes across the lifespan, says UAlberta researcher and ISTAR executive director.
Scientists have managed to considerably prolong the lifespan of flies by activating a gene which destroys unhealthy cells. The results could also open new possibilities in human anti-aging research.
Scientists have identified a new class of drugs that in animal models dramatically slows the aging process -- alleviating symptoms of frailty, improving cardiac function and extending a healthy lifesp...
A team of scientists based at Brown University has found that reducing expression of a fundamentally important gene called Myc significantly increased the healthy lifespan of laboratory mice, the firs...
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-seve...
The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.
Components or downstream targets of many signaling pathways such as Insulin/IGF-1 and TOR, as well as genes involved in cellular metabolism and bioenergetics can extend worm lifespan 20% or more. The ...
Reactive oxygen species (ROS) are highly reactive, oxygen-containing molecules that can cause molecular damage within the cell. While the accumulation of ROS-mediated damage is widely believed to be o...
Centrioles are essential for ciliogenesis. However, mutations in centriole biogenesis genes have been reported in primary microcephaly and Seckel syndrome, disorders without the hallmark clinical feat...