http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2022340901-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_b01dcd61775e996fac631d4b10c4e87f http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_ed3c2f63a5b1c705b1b389a6f1f1f7c8 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_ea8dafc6f989f3637bf89024e2bb24d3 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_e4afb1530bd6dd6420ba72c97597ef00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_43a72884e25aaecffebe0942132d704f |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N2320-33 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N2310-321 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N2310-11 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N2310-315 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N15-111 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N15-113 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-113 |
| filingDate | 2020-04-24-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_95bf074fd3869427a470fef784cb56fa http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_22253241a023b2a920bf0299349636d6 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_c3f666a7e636847f297c407a10a06333 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b78208ff00a96e032b94978af874ca68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e48fce6398e60ac95a75e4f7a83edc0a |
| publicationDate | 2022-10-27-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | US-2022340901-A1 |
| titleOfInvention | Methods for the treatment of retinal dystrophies by exon-skipping strategy |
| abstract | The invention relates to the skipping of the CEP290 exon 36 in an individual suffering from a retinal dystrophy accounted for by a nonsense mutation or a premature termination codon generated by a frameshift mutation in exon 36 or an upstream exon, including the c.4723A>T, c.4771C>T, c.4714G>T, c.4786_4790del, c.4791_4794del, c.4732G>T, c.4625_4626insCATG (35), c.4792_4795del, c.4801C>T, c.4805C>T, or c.4811G>A mutations, to bypass protein truncation and lessen retinal damages. Here, studying fibroblasts from control individuals, and two patients carrying the CEP290 c.4723A>T nonsense mutation, they show low levels of spontaneous skipping of exon 36 arising from both endogenous basal skipping and mutation-induced skipping. The minimally shortened and mutation-free CEP290 mRNA produced by skipping of exon 36 in the fibroblasts of the two patients is translated into a protein isoform that localizes at the centrosome and allows the formation of primary cilia, yet with elongated axonemes. Using an AON consisting of a sequence set forth as SEQ ID NO: 1, complementary to a nucleic acid sequence of CEP290 pre-mRNA, wherein said AON targeting an mRNA encoding the donor splice site (H36D) is capable to alter splicing by blocking the recognition of exon 36 and bypass protein truncation while maintaining the open reading frame, leading to the production of near full-length CEP290 protein, they were able to increase the abundance of the alternatively spliced mRNA and shortened protein and to reduce axonemal length in patient cells. |
| priorityDate | 2019-04-26-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
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