by Tom Hartl | Oct 18, 2016 | NGLY1 |
This past weekend was the 2016 Grace Science Foundation Meeting in Palo Alto. It was a great success! Here are the slides from my talk, with a few blurbs about them and what’s to come. Curious about this? Check out my first blog on making NGLY1 flies. Prior...
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...
by Tom Hartl | Jul 1, 2016 | Science |
Last week I attended the 2016 Mucolipidosis Type IV (MLIV) conference in Atlanta. It was organized and hosted by the MLIV Foundation. The attendees were about 50/50 MLIV scientists and MLIV families/patients. This is a small and very tight knit community. The MLIV...
![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...
by Tom Hartl | Dec 1, 2015 | NGLY1 |
N-glycanase 1 deficiency, or “NGLY1,” is a rare genetic disorder arising from mutations in the ngly1 gene. The disease was recently diagnosed in what was a remarkable partnering of patient advocates and scientists who used DNA sequencing to trace the disease-causing...
