Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_66467fe5b0acf469afb972f300bcfb87 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_c1fa54691802c1ea4d1e5c0017891091 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_a3a4f99a50c94377ec8e155230375c8d |
classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-347 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2500-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6876 |
classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-48 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-6893 |
classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-48 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K48-00 |
filingDate |
2005-05-08-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_59a7d964dc6ec3d38629259bda62a353 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_2ddf8ec1c138c774cb11fec0b6e1cf36 |
publicationDate |
2005-11-17-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber |
WO-2005108607-A1 |
titleOfInvention |
Compositions and methods for treating disorders associated with abnormal phosphate metabolism |
abstract |
The present invention uncovers that mutations in GALNT3 gene encoding UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T3) cause familial tumoral calcinosis (FTC). Methods and pharmaceutical compositions useful for treating disorders associated with abnormal phosphate metabolism are provided. Specifically, inducers of GalNAc-T3 can be used to treat hyperphosphatemia related disorders such as FTC, and on the other hand, inhibitors of GalNAc-T3 can be used to treat disorders associated with hypophosphatemia, such as hypophosphatemic rickets. The present invention further provides methods and kits for diagnosing familial tumoral calcinosis as well as for identifying agents suitable for treating disorders associated with abnormal phosphate metabolism. |
isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-110378371-A |
priorityDate |
2004-05-09-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type |
http://data.epo.org/linked-data/def/patent/Publication |