Niemann-Pick type C1 is a lysosomal storage disease caused by mutations in the NPC1 gene. The authors show that NPC1 regulates calcium levels in the lysosome, and calcium dysregulation could be ...

Niemann-Pick type B is caused by a defect in the SMPD1 gene, which results in reduced production of Acid Sphingomyelinase, which causes sphingomyelin to build up in the cells, which in turn ...

In patients with Niemann-Pick, the recycling machinery is broken. Cholesterol gradually accumulates, until it reaches toxic levels. Neurons – nerve cells – are particularly sensitive, although ...

The report also provides a detailed analysis of the current Niemann-Pick disease type C marketed drugs and late-stage pipeline drugs. BROOKLYN, BROOKLYN, UNITED STATES, June 25, 2025 /EINPresswire.com ...

Niemann-Pick disease is a group of rare genetic diseases that cause the buildup of fatty substances in your body. Type C can develop at any time between infancy and adulthood.

Niemann-Pick disease type C is one of a group of rare inherited disorders. It is not related to frontotemporal dementia, ... It is caused by an inherited inability to deal with cholesterol and other ...

Niemann-Pick disease type C is one of a group of rare inherited disorders. It is not related to frontotemporal dementia, ... It is caused by an inherited inability to deal with cholesterol and other ...

Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration. Hum Mol Genet. 2010 Mar 1;19(5):837-47. Epub 2009 Dec 10 PubMed. Frison M, Faccenda D, Abeti R, Rigon M, ...

Dinkel, L., et al. (2024). Myeloid cell–specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease.

With two drugs cleared by the U.S. FDA for Niemann-Pick disease type C (NPC) in less than seven days, Wall Street was pondering the differences between the compounds, given what’s known so far about ...

The life expectancy for a child with Niemann-Pick is 13 years because of the damage the disease does to the brain cells. The genetic disease, which affects 1 in 100,000, did not have an approved ...