http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-3558299-A1
Outgoing Links
Predicate | Object |
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assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_43a72884e25aaecffebe0942132d704f http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_c5073a0063d6be9e25c14d2af0a1ee89 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_bce8e143c59bc79dddac8bb94e32836e http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_e4afb1530bd6dd6420ba72c97597ef00 |
classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P25-28 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K31-357 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K31-00 |
classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61P25-28 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K31-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K31-357 |
filingDate | 2017-12-19-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_cd40cee156dfc9de0af3e8d72916e971 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_1501cc16f8269cf0967716b088a584a4 |
publicationDate | 2019-10-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber | EP-3558299-A1 |
titleOfInvention | Methods and pharmaceutical compositions for the treatment of neurodegeneration with brain iron accumulation |
abstract | The present invention relates to methods and pharmaceutical compositions for the treatment of neurodegeneration with brain iron accumulation (NBIA). Studying two novel genes, namely, CRAT encoding the carnitine acetyltransferase and REPS1 involved in endocytosis and vesicle transport, and a series of known NBIA genes, the inventors reported on iron overload related to increased levels and abnormal recycling of transferrin receptor as a common feature in NBIA. They ascribe this anomaly, at least in part, to impaired palmitoylation of the receptor as a common consequence of the various disease causing mutations. Finally, the inventors show that Artesunate improved TfR1 palmitoylation in NBIA fibroblasts. In particular, the present invention relates to a method of treating neurodegeneration with brain iron accumulation in a subject in need thereof comprising administering to the subject a therapeutically effective amount of a drug increasing TfR1 palmitoylation. |
priorityDate | 2016-12-20-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 410.