JP2020512822A5 - - Google Patents

Info

Publication number

JP2020512822A5

JP2020512822A5 JP2019555010A JP2019555010A JP2020512822A5 JP 2020512822 A5 JP2020512822 A5 JP 2020512822A5 JP 2019555010 A JP2019555010 A JP 2019555010A JP 2019555010 A JP2019555010 A JP 2019555010A JP 2020512822 A5 JP2020512822 A5 JP 2020512822A5

Authority

JP

Japan

Prior art keywords

nucleic acid

isolated nucleic

seq

composition

cep290

Prior art date

2018-04-05

Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)

Granted

Links

• Espacenet
• Global Dossier
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• 108020004707 nucleic acids Proteins 0.000 claims 21
• 102000039446 nucleic acids Human genes 0.000 claims 21
• 150000007523 nucleic acids Chemical class 0.000 claims 21
• 239000000203 mixture Substances 0.000 claims 15
• 102100035673 Centrosomal protein of 290 kDa Human genes 0.000 claims 10
• 101710198317 Centrosomal protein of 290 kDa Proteins 0.000 claims 10
• 239000012634 fragment Substances 0.000 claims 9
• 150000001413 amino acids Chemical group 0.000 claims 7
• 230000035772 mutation Effects 0.000 claims 7
• 108700019146 Transgenes Proteins 0.000 claims 6
• 108090000565 Capsid Proteins Proteins 0.000 claims 5
• 102100023321 Ceruloplasmin Human genes 0.000 claims 5
• 241000702421 Dependoparvovirus Species 0.000 claims 4
• 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 claims 4
• 108091008695 photoreceptors Proteins 0.000 claims 4
• 101150078156 Cep290 gene Proteins 0.000 claims 3
• 230000001886 ciliary effect Effects 0.000 claims 3
• 201000010099 disease Diseases 0.000 claims 3
• 201000004569 Blindness Diseases 0.000 claims 2
• 206010010356 Congenital anomaly Diseases 0.000 claims 2
• 101000834253 Gallus gallus Actin, cytoplasmic 1 Proteins 0.000 claims 2
• 102100023742 Rhodopsin kinase GRK1 Human genes 0.000 claims 2
• 230000037430 deletion Effects 0.000 claims 2
• 238000012217 deletion Methods 0.000 claims 2
• 238000002347 injection Methods 0.000 claims 2
• 239000007924 injection Substances 0.000 claims 2
• 208000011580 syndromic disease Diseases 0.000 claims 2
• NCYCYZXNIZJOKI-IOUUIBBYSA-N 11-cis-retinal Chemical compound O=C/C=C(\C)/C=C\C=C(/C)\C=C\C1=C(C)CCCC1(C)C NCYCYZXNIZJOKI-IOUUIBBYSA-N 0.000 claims 1
• FWMNVWWHGCHHJJ-SKKKGAJSSA-N 4-amino-1-[(2r)-6-amino-2-[[(2r)-2-[[(2r)-2-[[(2r)-2-amino-3-phenylpropanoyl]amino]-3-phenylpropanoyl]amino]-4-methylpentanoyl]amino]hexanoyl]piperidine-4-carboxylic acid Chemical compound C([C@H](C(=O)N[C@H](CC(C)C)C(=O)N[C@H](CCCCN)C(=O)N1CCC(N)(CC1)C(O)=O)NC(=O)[C@H](N)CC=1C=CC=CC=1)C1=CC=CC=C1 FWMNVWWHGCHHJJ-SKKKGAJSSA-N 0.000 claims 1
• 241001634120 Adeno-associated virus - 5 Species 0.000 claims 1
• 241001164825 Adeno-associated virus - 8 Species 0.000 claims 1
• 208000026372 Congenital cystic kidney disease Diseases 0.000 claims 1
• 108091004242 G-Protein-Coupled Receptor Kinase 1 Proteins 0.000 claims 1
• 101000829506 Homo sapiens Rhodopsin kinase GRK1 Proteins 0.000 claims 1
• 201000008645 Joubert syndrome Diseases 0.000 claims 1
• 201000008643 Meckel syndrome Diseases 0.000 claims 1
• 108020004485 Nonsense Codon Proteins 0.000 claims 1
• 201000007737 Retinal degeneration Diseases 0.000 claims 1
• 102000004330 Rhodopsin Human genes 0.000 claims 1
• 108090000820 Rhodopsin Proteins 0.000 claims 1
• 108090000799 Rhodopsin kinases Proteins 0.000 claims 1
• 208000014769 Usher Syndromes Diseases 0.000 claims 1
• 208000027418 Wounds and injury Diseases 0.000 claims 1
• 125000003275 alpha amino acid group Chemical group 0.000 claims 1
• 206010001902 amaurosis Diseases 0.000 claims 1
• 210000004027 cell Anatomy 0.000 claims 1
• 210000004081 cilia Anatomy 0.000 claims 1
• 230000006378 damage Effects 0.000 claims 1
• 230000007850 degeneration Effects 0.000 claims 1
• 208000035475 disorder Diseases 0.000 claims 1
• 231100000221 frame shift mutation induction Toxicity 0.000 claims 1
• 230000037433 frameshift Effects 0.000 claims 1
• 208000014674 injury Diseases 0.000 claims 1
• 208000018769 loss of vision Diseases 0.000 claims 1
• 231100000864 loss of vision Toxicity 0.000 claims 1
• 201000002648 nephronophthisis Diseases 0.000 claims 1
• 230000037434 nonsense mutation Effects 0.000 claims 1
• 239000000546 pharmaceutical excipient Substances 0.000 claims 1
• 239000013612 plasmid Substances 0.000 claims 1
• 108090000623 proteins and genes Proteins 0.000 claims 1
• 102000004169 proteins and genes Human genes 0.000 claims 1
• 230000004258 retinal degeneration Effects 0.000 claims 1
• 230000004283 retinal dysfunction Effects 0.000 claims 1
• 102000029752 retinol binding Human genes 0.000 claims 1
• 108091000053 retinol binding Proteins 0.000 claims 1
• 238000011200 topical administration Methods 0.000 claims 1
• 230000004393 visual impairment Effects 0.000 claims 1