Niemann-Pick

The group say they have bred mice that produce low levels of a protein known as Niemann-Pick C1 which transports cholesterol inside cells.

Ebola: the solution may be in sight 2011

People whose cells lack the protein typically develop a disease called Niemann-Pick, in which cholesterol and other lipids build up in the liver, spleen and brain.

The Seattle Times 2012

People whose cells lack the protein typically develop a disease called Niemann-Pick, in which cholesterol and other lipids build up in the liver, spleen and brain.

NYT > Home Page By AMANDA SCHAFFER 2012

But the new research suggests the virus has a weakness in the form of a well-known protein called Niemann-Pick.

FOXNews.com 2011

In addition to the previously identified FTO and MC4R genes, the researchers detected significant association of obesity with three new risk loci in NPC1 (endosomal/lysosomal Niemann-Pick C1 gene), near MAF (encoding the transcription factor c-MAF) and near PTER (phosphotriesterase-related gene).

Dr. Sharma’s Obesity Notes » Blog Archive » Three New Genetic Loci for Severe Obesity 2009

But it's a huge challenge to generate drug company interest in the expensive testing of medicines for diseases so rare — like her girls' Niemann-Pick Type C — that the market is only a few hundred or few thousand people a year.

Push to spur more drugs for deadly rare diseases 2011

Gaucher disease; Niemann-Pick disease; Krabbe disease; metachromatic leukodystrophy; Tay Sachs; Sandhoff

Biochemical Genetics-Metabolic Disease 2010

That's Chris Hempel's argument: Niemann-Pick Type C, or NPC, causes cholesterol and other fats to build up to toxic levels inside cells, harming various organs and especially the brain until patients lose the ability to talk, walk and swallow.

Push to spur more drugs for deadly rare diseases 2011

Cindy Parseghian, a mother of four children, three of whom died from the fatal cholesterol-metabolism disorder Niemann-Pick Type C, started a foundation together with her family that helps fund research efforts, including a project to develop a newborn screening test.

New Tests for Newborns, And Dilemmas for Parents Amy Dockser Marcus 2011

Even without a cure for Niemann-Pick Type C, it is critical to find a way to diagnose children at birth if the drugs are going to make a difference, Ms. Parseghian, of Tucson, Ariz., says.

New Tests for Newborns, And Dilemmas for Parents Amy Dockser Marcus 2011