Study shows how two proteins provide a tunnel for bad cholesterol to enter...
A study has outlined how two proteins are instrumental to bringing cholesterol into cells – a finding that has implications for a range of diseases.
View ArticleResearchers identify immune protein linked to rare neurodegenerative disease
UT Southwestern researchers have identified an immune protein tied to the rare neurodegenerative condition known as Niemann-Pick disease type C.
View ArticleRepurposed ALS drug could slow gradual brain cell loss in Niemann-Pick...
Riluzole, a drug approved to treat amyotrophic lateral sclerosis (ALS), a disease affecting nerve cells controlling movement, could slow the gradual loss of a particular brain cell that occurs in...
View ArticleNew gene therapy addresses primary cellular deficit associated with...
Children's National Hospital experts developed a new pre-clinical gene therapy for a rare disorder, known as limb-girdle muscular dystrophy (LGMD) 2B, that addresses the primary cellular deficit...
View ArticleCENTOGENE teams up with Insilico Medicine to improve therapeutic targets for...
A commercial-stage company focused on generating data-driven insights to diagnose, understand and treat rare diseases, and Insilico Medicine, an end-to-end Artificial Intelligence (AI) - driven drug...
View ArticleScientists reverse the effects of lysosomal storage disorders in patient...
Scientists at the Icahn School of Medicine at Mount Sinai in New York, the National Center for Advancing Translational Sciences (NCATS), and elsewhere have reversed the effects of several...
View ArticleIs your DNA steering you towards a vegetarian diet?
Researchers using the UK Biobank identified genetic markers linked to strict vegetarianism, revealing potential connections between vegetarianism, lipid metabolism, and brain activity. The study...
View ArticleDrug repurposing offers hope for SYNGAP1 patients
The SynGAP Research Fund 501(c)(3) has awarded a pair of grants to Dr. Clement Chow, a geneticist and Associate Professor in the Department of Human Genetics at the University of Utah. These grants are...
View ArticleProtein identified as key to preventing fat build-up and related diseases
Accumulation of fat molecules is detrimental to the cell. Researchers from the Yong Loo Lin School of Medicine, National University of Singapore (NUS Medicine), have made a breakthrough in...
View ArticleMany individuals with Niemann-Pick disease lack neutralizing antibodies...
A new study in the peer-reviewed journal Human Gene Therapy showed that more than half of individuals with Niemann-Pick disease, type C1 (NPC1) who were tested lacked neutralizing antibodies against...
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