AI Article Synopsis
- Primary familial brain calcification (PFBC) is a neurological disorder marked by calcium phosphate buildup in the brain, associated with mutations in specific genes like SLC20A2, PDGFB, and PDGFRB.
- Researchers discovered mutations in the XPR1 gene, which is responsible for phosphate export, in multiple families with PFBC.
- These mutations disrupt phosphate export, suggesting that XPR1 plays a crucial role in maintaining phosphate balance in relation to PFBC.
Article Abstract
Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations. We identified in multiple families with PFBC mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function. These mutations alter phosphate export, implicating XPR1 and phosphate homeostasis in PFBC.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4516721 | PMC |
| http://dx.doi.org/10.1038/ng.3289 | DOI Listing |
Publication Analysis
Top Keywords
phosphate export
12
mutations xpr1
8
primary familial
8
familial brain
8
brain calcification
8
phosphate
5
mutations
4
xpr1 primary
4
calcification associated
4
associated altered
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!