HRP20151238T1 - Mutanti frataksina - Google Patents
Mutanti frataksina Download PDFInfo
- Publication number
- HRP20151238T1 HRP20151238T1 HRP20151238TT HRP20151238T HRP20151238T1 HR P20151238 T1 HRP20151238 T1 HR P20151238T1 HR P20151238T T HRP20151238T T HR P20151238TT HR P20151238 T HRP20151238 T HR P20151238T HR P20151238 T1 HRP20151238 T1 HR P20151238T1
- Authority
- HR
- Croatia
- Prior art keywords
- polypeptide
- pharmaceutical composition
- carrier
- cell
- seq
- Prior art date
Links
- 102000003869 Frataxin Human genes 0.000 title claims 3
- 108090000217 Frataxin Proteins 0.000 title claims 3
- 229920001184 polypeptide Polymers 0.000 claims 10
- 102000004196 processed proteins & peptides Human genes 0.000 claims 10
- 108090000765 processed proteins & peptides Proteins 0.000 claims 10
- 210000004027 cell Anatomy 0.000 claims 7
- 239000008194 pharmaceutical composition Substances 0.000 claims 7
- 230000003612 virological effect Effects 0.000 claims 6
- 108091033319 polynucleotide Proteins 0.000 claims 5
- 102000040430 polynucleotide Human genes 0.000 claims 5
- 239000002157 polynucleotide Substances 0.000 claims 5
- 238000000034 method Methods 0.000 claims 3
- 208000024412 Friedreich ataxia Diseases 0.000 claims 2
- 102000004245 Proteasome Endopeptidase Complex Human genes 0.000 claims 2
- 108090000708 Proteasome Endopeptidase Complex Proteins 0.000 claims 2
- 125000003275 alpha amino acid group Chemical group 0.000 claims 2
- 230000001580 bacterial effect Effects 0.000 claims 2
- 230000015556 catabolic process Effects 0.000 claims 2
- 238000006731 degradation reaction Methods 0.000 claims 2
- 210000001808 exosome Anatomy 0.000 claims 2
- 239000002502 liposome Substances 0.000 claims 2
- 230000001404 mediated effect Effects 0.000 claims 2
- 150000007523 nucleic acids Chemical group 0.000 claims 2
- 230000034512 ubiquitination Effects 0.000 claims 2
- 238000010798 ubiquitination Methods 0.000 claims 2
- 108091028043 Nucleic acid sequence Proteins 0.000 claims 1
- 239000002671 adjuvant Substances 0.000 claims 1
- 239000000969 carrier Substances 0.000 claims 1
- 239000003085 diluting agent Substances 0.000 claims 1
- 239000003995 emulsifying agent Substances 0.000 claims 1
- 238000001415 gene therapy Methods 0.000 claims 1
- 239000000203 mixture Substances 0.000 claims 1
- 108020004707 nucleic acids Proteins 0.000 claims 1
- 102000039446 nucleic acids Human genes 0.000 claims 1
- 239000002773 nucleotide Substances 0.000 claims 1
- 125000003729 nucleotide group Chemical group 0.000 claims 1
- 239000000546 pharmaceutical excipient Substances 0.000 claims 1
- 239000003755 preservative agent Substances 0.000 claims 1
- 108090000623 proteins and genes Proteins 0.000 claims 1
- 102000004169 proteins and genes Human genes 0.000 claims 1
- 239000002904 solvent Substances 0.000 claims 1
- 230000026683 transduction Effects 0.000 claims 1
- 238000010361 transduction Methods 0.000 claims 1
Classifications
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
- C12N9/0004—Oxidoreductases (1.)
- C12N9/0091—Oxidoreductases (1.) oxidizing metal ions (1.16)
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K38/00—Medicinal preparations containing peptides
- A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- A61K38/43—Enzymes; Proenzymes; Derivatives thereof
- A61K38/44—Oxidoreductases (1)
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
- C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Y—ENZYMES
- C12Y116/00—Oxidoreductases oxidizing metal ions (1.16)
- C12Y116/03—Oxidoreductases oxidizing metal ions (1.16) with oxygen as acceptor (1.16.3)
- C12Y116/03001—Ferroxidase (1.16.3.1), i.e. ceruloplasmin
Claims (13)
1. Polipeptid koji ima barem 90% identiteta sekvence od SEQ ID NO:1 i koji sadrži R ostatak na poziciji koja odgovara poziciji 147 od SEQ ID NO:1.
2. Polipeptid prema patentom zahtjevu 1, naznačen time da polipeptid ima barem 95% ili barem 99% identiteta sekvence od amino kiselinske sekvence od SEQ ID NO: 1.
3. Izolirani rekombinantni polinukleotid koji sadrži ili se sastoji od sekvence nukleinske kiseline koja kodira polipeptid koji ima amino kiselinsku sekvencu prema patentnom zahtjevu 1 ili 2.
4. Polinukleotid prema zahtjevu 3, naznačen time da molekula nukleinske kiseline sadrži nukleotidnu sekvencu koja ima barem 90% identiteta sekvence od cijele duljine sekvence SEQ ID NO:2.
5. Vektor ili stanica domaćin koja sadrži polinukleotid prema patentom zahtjevu 3 ili 4.
6. Farmaceutski sastav koji sadrži terapijski učinkovitu količinu izoliranog polipeptida prema bilo kojem patentnom zahtjevu 1 ili 2, opcionalno zajedno s jednim ili više farmaceutski prihvatljivih ekscipijensa, razrjeđivača, konzervansa, otapala, emulgatora, adjuvansa, ili nosača.
7. Farmaceutski sastav prema patentnom zahtjevu 6, naznačen time da je za upotrebu u metodi liječenja Friedreichove ataksije.
8. Farmaceutski sastav prema patentnom zahtjevu 6, ili farmaceutski sastav za upotrebu prema patentnom zahtjevu 7, naznačen time da sastav sadrži:
(i) nosač odabran od grupe koju čini liposom, polimerni mikro nosač, egzosom, bakterijski nosač, i njihov funkcionalni ekvivalent; ili
(ii) sustav nosača odabran od grupe koju čini virusni sustav, hibridni sintetički virusni sustav, nevirusni sustav, i njihov funkcionalni ekvivalent;
gdje je nosač ili sustav nosača za dobavljanje izoliranog polipeptida u stanicu.
9. Farmaceutski sastav prema patentnom zahtjevu 8(i), ili farmaceutski sastav za upotrebu prema patentnom zahtjevu 8(i), gdje je izolirani polipeptid srašten u okvir s proteinskom transdukcijskom domenom.
10. Polinukleotid prema patentnom zahtjevu 3 ili 4, naznačen time da je za upotrebu u genskoj terapiji za liječenje Friedreichove ataksije.
11. Farmaceutski sastav prema patentnom zahtjevu 7, za upotrebu prema tom zahtjevu, ili polinukleotid prema patentnom zahtjevu 10, za upotrebu prema tom zahtjevu, naznačen time da je spriječena ubikvitinacija ili proteasomom posredovana degradacija frataksina u stanici subjekta.
12. Ex vivo metoda davanja izoliranog polipeptida prema patentnom zahtjevu 1 ili 2 u stancu pomoću (i) nosača odabranog od grupe koju čini liposom, polimerni mikronosač, egzosom, bakterijski nosač, i njihov funkcionalni ekvivalent ili (ii) sustava nosača odabranog od grupe koju čini virusni sustav, hibridni sintetički virusni sustav, nevirusni sustav, i njihov funkcionalni ekvivalent.
13. Ex vivo metoda sprječavanja ubikvitinacije ili proteasomom posredovane degradacije frataksina u stanici koja sadrži ekspresiju polipeptida prema patentnom zahtjevu 1 ili 2 u stanici ili uvođenje polipeptida patentnog zahtjeva 1 ili 2 u stanicu.
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US36857610P | 2010-07-28 | 2010-07-28 | |
| EP11788225.8A EP2598525B1 (en) | 2010-07-28 | 2011-07-27 | Frataxin mutants |
| PCT/IB2011/002511 WO2012014083A2 (en) | 2010-07-28 | 2011-07-27 | Frataxin mutants |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| HRP20151238T1 true HRP20151238T1 (hr) | 2015-12-18 |
Family
ID=45044630
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| HRP20151238TT HRP20151238T1 (hr) | 2010-07-28 | 2015-11-17 | Mutanti frataksina |
Country Status (12)
| Country | Link |
|---|---|
| US (2) | US9217019B2 (hr) |
| EP (2) | EP3012267A1 (hr) |
| CA (1) | CA2806303C (hr) |
| DK (1) | DK2598525T3 (hr) |
| ES (1) | ES2552456T3 (hr) |
| HR (1) | HRP20151238T1 (hr) |
| HU (1) | HUE028111T2 (hr) |
| PL (1) | PL2598525T3 (hr) |
| PT (1) | PT2598525E (hr) |
| SI (1) | SI2598525T1 (hr) |
| SM (1) | SMT201500264B (hr) |
| WO (1) | WO2012014083A2 (hr) |
Families Citing this family (10)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US10442779B2 (en) | 2014-09-22 | 2019-10-15 | Fratagene Therapeutics S.R.L. | Compositions and methods for treating Friedreich's ataxia |
| WO2016103223A1 (en) * | 2014-12-23 | 2016-06-30 | Fratagene Therapeutics Ltd. | Methods of treating friedreich's ataxia using src inhibitors |
| WO2016115503A1 (en) * | 2015-01-16 | 2016-07-21 | Voyager Therapeutics, Inc. | Central nervous system targeting polynucleotides |
| US10517877B2 (en) | 2016-03-30 | 2019-12-31 | Wisconsin Alumni Research Foundation | Compounds and methods for modulating frataxin expression |
| CA3042706A1 (en) * | 2016-11-09 | 2018-05-17 | Intrexon Corporation | Frataxin expression constructs |
| US11759533B2 (en) | 2017-03-29 | 2023-09-19 | Wisconsin Alumni Research Foundation | Methods and compositions for modulating gene expression |
| US10426775B2 (en) | 2017-09-11 | 2019-10-01 | Fratagene Therapeutics Srl | Methods for treating Friedreich's ataxia with etravirine |
| US20220378869A1 (en) * | 2019-07-18 | 2022-12-01 | Larimar Therapeutics, Inc. | Use of frataxin for treating leigh syndrome, french canadian type |
| WO2021021931A1 (en) | 2019-07-29 | 2021-02-04 | The Trustees Of Indiana University | Materials and methods for treating friedreich's ataxia |
| AU2021398577A1 (en) | 2020-12-12 | 2023-07-20 | Larimar Therapeutics, Inc. | Pharmaceutical composition comprising frataxin fusion protein and methods of use thereof |
Family Cites Families (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6812339B1 (en) * | 2000-09-08 | 2004-11-02 | Applera Corporation | Polymorphisms in known genes associated with human disease, methods of detection and uses thereof |
| AT500929B1 (de) * | 2004-11-09 | 2007-03-15 | Medizinische Uni Wien Muw | Pharmazeutische zubereitung die erythropoietin enthält |
| US8703749B2 (en) * | 2009-12-07 | 2014-04-22 | Roberto Testi | Compositions and methods for treating Friedreich's Ataxia |
-
2011
- 2011-07-27 CA CA2806303A patent/CA2806303C/en not_active Expired - Fee Related
- 2011-07-27 EP EP15181464.7A patent/EP3012267A1/en not_active Withdrawn
- 2011-07-27 PT PT117882258T patent/PT2598525E/pt unknown
- 2011-07-27 EP EP11788225.8A patent/EP2598525B1/en not_active Not-in-force
- 2011-07-27 US US13/812,516 patent/US9217019B2/en not_active Expired - Fee Related
- 2011-07-27 SI SI201130654T patent/SI2598525T1/sl unknown
- 2011-07-27 WO PCT/IB2011/002511 patent/WO2012014083A2/en active Application Filing
- 2011-07-27 DK DK11788225.8T patent/DK2598525T3/da active
- 2011-07-27 PL PL11788225T patent/PL2598525T3/pl unknown
- 2011-07-27 HU HUE11788225A patent/HUE028111T2/en unknown
- 2011-07-27 ES ES11788225.8T patent/ES2552456T3/es active Active
-
2015
- 2015-10-27 SM SM201500264T patent/SMT201500264B/it unknown
- 2015-11-12 US US14/940,043 patent/US9944906B2/en not_active Expired - Fee Related
- 2015-11-17 HR HRP20151238TT patent/HRP20151238T1/hr unknown
Also Published As
| Publication number | Publication date |
|---|---|
| SMT201500264B (it) | 2016-01-08 |
| DK2598525T3 (da) | 2015-09-21 |
| US9944906B2 (en) | 2018-04-17 |
| HUE028111T2 (en) | 2016-11-28 |
| EP2598525B1 (en) | 2015-08-19 |
| US20160060605A1 (en) | 2016-03-03 |
| WO2012014083A2 (en) | 2012-02-02 |
| EP2598525A2 (en) | 2013-06-05 |
| SI2598525T1 (sl) | 2016-02-29 |
| US20130196932A1 (en) | 2013-08-01 |
| CA2806303C (en) | 2018-01-02 |
| WO2012014083A3 (en) | 2012-04-19 |
| PL2598525T3 (pl) | 2016-03-31 |
| US9217019B2 (en) | 2015-12-22 |
| EP3012267A1 (en) | 2016-04-27 |
| CA2806303A1 (en) | 2012-02-02 |
| PT2598525E (pt) | 2015-11-02 |
| ES2552456T3 (es) | 2015-11-30 |
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