by Ethan Perlstein | Jun 14, 2018 | Rare Diseases |
I just attended the 2018 Michael, Marcia, and Christa Parseghian Scientific Conference for Niemann-Pick Type C (NPC) research. My mind is still spinning from all the productive interactions and conversations I had over three session-packed days at The Westin La Paloma...
by Tom Hartl | Aug 16, 2016 | Science |
Here I’ll sum up a recent paper in Developmental Cell by E. Thomas Danielson and Morten E. Moeller. The paper, entitled “A Drosophila Genome-Wide Screen Identifies Regulators of Steroid Hormone Production and Developmental Timing,” utilized the Vienna Drosophila RNAi...
![Clinical relevance of a Drosophila model of Niemann-Pick C]()
by Tom Hartl | Jun 2, 2016 | Science |
Niemann-Pick type C (NPC) is a tragic childhood neurodegenerative disease. The majority of NPC cases (95%) are caused by mutations in the npc1 gene. Npc1 is a late endosomal/lysosomal (LEL) protein that is necessary for proper lipid trafficking. When Npc1 is...
