Compounds and methods useful for stabilizing phenylalanine hydroxylase mutations
The disclosure relates to compounds of Formula I or a pharmaceutically acceptable salt thereof, wherein, m, R1-R5, R5A, and L are defined herein.These compounds are useful in methods for stabilizing a mutant PAH protein or reducing blood phenylalanine concentration in a subject suffering from phenyl...
Saved in:
| Main Authors | , , , , |
|---|---|
| Format | Patent |
| Language | English |
| Published |
05.03.2024
|
| Subjects | |
| Online Access | Get full text |
Cover
Loading…
| Abstract | The disclosure relates to compounds of Formula I or a pharmaceutically acceptable salt thereof, wherein, m, R1-R5, R5A, and L are defined herein.These compounds are useful in methods for stabilizing a mutant PAH protein or reducing blood phenylalanine concentration in a subject suffering from phenylketonuria. In some embodiments, the mutant PAH protein contains at least one R408W, R261Q, R243Q, Y414C, L48S, A403V, I65T, R241C, L348V, R408Q, or V388M mutation. In other embodiments, the mutant PAH protein contains at least one R408W, Y414C, I65T, F39L, R408Q, L348V, R261Q, A300S, or L48S mutation. |
|---|---|
| AbstractList | The disclosure relates to compounds of Formula I or a pharmaceutically acceptable salt thereof, wherein, m, R1-R5, R5A, and L are defined herein.These compounds are useful in methods for stabilizing a mutant PAH protein or reducing blood phenylalanine concentration in a subject suffering from phenylketonuria. In some embodiments, the mutant PAH protein contains at least one R408W, R261Q, R243Q, Y414C, L48S, A403V, I65T, R241C, L348V, R408Q, or V388M mutation. In other embodiments, the mutant PAH protein contains at least one R408W, Y414C, I65T, F39L, R408Q, L348V, R261Q, A300S, or L48S mutation. |
| Author | De Pascalis, Lucrezia Shook, Brian C King, Sandra Konteatis, Zenon D Finlay, Heather Jane |
| Author_xml | – fullname: Konteatis, Zenon D – fullname: De Pascalis, Lucrezia – fullname: King, Sandra – fullname: Shook, Brian C – fullname: Finlay, Heather Jane |
| BookMark | eNqNijsOwjAMQDPAwO8O5gAMATF0pQIxIgFzZahDIyV2VCcS5fR04ABM7z3pzc2EhWlmLrXEJIVbBeQWIuVORi9KrgRw0oNmfPjgP55fkDriIWBA9kzQDW0v77GVIJaM2Qvr0kwdBqXVjwuzPh1v9XlDSRrShE9iys39am1lq8ruD9vdP88XYOs6kw |
| ContentType | Patent |
| DBID | EVB |
| DatabaseName | esp@cenet |
| DatabaseTitleList | |
| Database_xml | – sequence: 1 dbid: EVB name: esp@cenet url: http://worldwide.espacenet.com/singleLineSearch?locale=en_EP sourceTypes: Open Access Repository |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine Chemistry Sciences |
| ExternalDocumentID | US11919915B2 |
| GroupedDBID | EVB |
| ID | FETCH-epo_espacenet_US11919915B23 |
| IEDL.DBID | EVB |
| IngestDate | Fri Sep 20 10:13:04 EDT 2024 |
| IsOpenAccess | true |
| IsPeerReviewed | false |
| IsScholarly | false |
| Language | English |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-epo_espacenet_US11919915B23 |
| Notes | Application Number: US202318214831 |
| OpenAccessLink | https://worldwide.espacenet.com/publicationDetails/biblio?FT=D&date=20240305&DB=EPODOC&CC=US&NR=11919915B2 |
| ParticipantIDs | epo_espacenet_US11919915B2 |
| PublicationCentury | 2000 |
| PublicationDate | 20240305 |
| PublicationDateYYYYMMDD | 2024-03-05 |
| PublicationDate_xml | – month: 03 year: 2024 text: 20240305 day: 05 |
| PublicationDecade | 2020 |
| PublicationYear | 2024 |
| RelatedCompanies | Agios Pharmaceuticals, Inc |
| RelatedCompanies_xml | – name: Agios Pharmaceuticals, Inc |
| Score | 3.5209198 |
| Snippet | The disclosure relates to compounds of Formula I or a pharmaceutically acceptable salt thereof, wherein, m, R1-R5, R5A, and L are defined herein.These... |
| SourceID | epo |
| SourceType | Open Access Repository |
| SubjectTerms | CHEMISTRY HETEROCYCLIC COMPOUNDS METALLURGY ORGANIC CHEMISTRY |
| Title | Compounds and methods useful for stabilizing phenylalanine hydroxylase mutations |
| URI | https://worldwide.espacenet.com/publicationDetails/biblio?FT=D&date=20240305&DB=EPODOC&locale=&CC=US&NR=11919915B2 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV3fS8MwED7GFPVNp6LzBxGkb8Wsa7vuoQhtN4awH7hN9jbaJmPK7IZtkfnXe5d1zhd9CwkcycHlviRfvgO456I-ExFJIYqQ6-bMEnrYlLYeh83Y5pETCVWSpduzO2PzaWJNSvC2_QujdEI_lTgiRlSM8Z6p_Xq1u8QKFLcyfYhesWv52B65gVacjklcjlta4LmtQT_o-5rvu-Oh1nt2SccMoZDl4Xa9RzCadPZbLx79Sln9TintY9gfoLUkO4GSTCpw6G8rr1XgoFs8eGOziL30FAYUulQEKWV4-meb0s8py1M5yxcMsSdDoEdU1y_MRoyoW-sF8RbRDpuvBdFVEClL9p5vXt_TM7hrt0Z-R8epTX_8MB0Pd6uon0M5WSbyAhgXpsFtwxA2j03ZqIdOLEUUCssxGo1aTV5C9W871f8Gr-CIfKooV9Y1lLOPXN5gDs6iW-W8bx_Qjnw |
| link.rule.ids | 230,309,786,891,25594,76906 |
| linkProvider | European Patent Office |
| linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV3dT8IwEL8QNOKbokbxqyZmb4tl7AMeFhM2CCpfETC8kW0tUYODuC0G_3rvCoov-ta0yaW95Hq_tr_-DuCai8pUhCSFKAKum1NL6EFN2noU1CKbh9VQqJIsna7dGpn3Y2ucg9fvvzBKJ_RDiSNiREUY76narxebSyxfcSuTm_AFu-a3zaHra-vTMYnLcUvz626j3_N7nuZ57migdR9d0jFDKGTVcbveckidl6DTU51-pSx-p5TmHmz30Vqc7kNOxkUoeN-V14qw01k_eGNzHXvJAfQpdKkIUsLw9M9WpZ8TliVyms0YYk-GQI-orp-YjRhRt5Yz4i2iHfa8FERXQaQs2Vu2en1PDuGq2Rh6LR2nNvnxw2Q02KyicgT5eB7LY2BcmAa3DUPYPDKlUwmqkRRhIKyq4TjlsjyB0t92Sv8NXkKhNey0J-277sMp7JJ_Ff3KOoN8-p7Jc8zHaXihHPkF8saRaQ |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Apatent&rft.title=Compounds+and+methods+useful+for+stabilizing+phenylalanine+hydroxylase+mutations&rft.inventor=Konteatis%2C+Zenon+D&rft.inventor=De+Pascalis%2C+Lucrezia&rft.inventor=King%2C+Sandra&rft.inventor=Shook%2C+Brian+C&rft.inventor=Finlay%2C+Heather+Jane&rft.date=2024-03-05&rft.externalDBID=B2&rft.externalDocID=US11919915B2 |