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...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Hauptverfasser:	Konteatis, Zenon D, De Pascalis, Lucrezia, King, Sandra, Shook, Brian C, Finlay, Heather Jane
Format:	Patent
Sprache:	eng
Schlagworte:	CHEMISTRY HETEROCYCLIC COMPOUNDS METALLURGY ORGANIC CHEMISTRY
Online-Zugang:	Volltext bestellen
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

container_end_page
container_issue
container_start_page
container_title
container_volume
creator	Konteatis, Zenon D De Pascalis, Lucrezia King, Sandra Shook, Brian C Finlay, Heather Jane
description	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.
format	Patent
fullrecord	<record><control><sourceid>epo_EVB</sourceid><recordid>TN_cdi_epo_espacenet_US2023365592A1</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>US2023365592A1</sourcerecordid><originalsourceid>FETCH-epo_espacenet_US2023365592A13</originalsourceid><addsrcrecordid>eNrjZAhw9vcN8A_1cwlWcPRzUfB1DfHwB7JDg13dQn0U3PyDFIJDHJ08fTyjPP3cFQI8XP0ifRx9HP08_VwVPCJdgvwjgPxgVwXf0BDHEE9_v2AeBta0xJziVF4ozc2g7OYa4uyhm1qQH59aXJCYnJqXWhIfGmxkYGRsbGZqamnkaGhMnCoAgekwtw</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>patent</recordtype></control><display><type>patent</type><title>COMPOUNDS AND METHODS USEFUL FOR STABILIZING PHENYLALANINE HYDROXYLASE MUTATIONS</title><source>esp@cenet</source><creator>Konteatis, Zenon D ; De Pascalis, Lucrezia ; King, Sandra ; Shook, Brian C ; Finlay, Heather Jane</creator><creatorcontrib>Konteatis, Zenon D ; De Pascalis, Lucrezia ; King, Sandra ; Shook, Brian C ; Finlay, Heather Jane</creatorcontrib><description>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.</description><language>eng</language><subject>CHEMISTRY ; HETEROCYCLIC COMPOUNDS ; METALLURGY ; ORGANIC CHEMISTRY</subject><creationdate>2023</creationdate><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://worldwide.espacenet.com/publicationDetails/biblio?FT=D&date=20231116&DB=EPODOC&CC=US&NR=2023365592A1$$EHTML$$P50$$Gepo$$Hfree_for_read</linktohtml><link.rule.ids>230,308,780,885,25564,76547</link.rule.ids><linktorsrc>$$Uhttps://worldwide.espacenet.com/publicationDetails/biblio?FT=D&date=20231116&DB=EPODOC&CC=US&NR=2023365592A1$$EView_record_in_European_Patent_Office$$FView_record_in_$$GEuropean_Patent_Office$$Hfree_for_read</linktorsrc></links><search><creatorcontrib>Konteatis, Zenon D</creatorcontrib><creatorcontrib>De Pascalis, Lucrezia</creatorcontrib><creatorcontrib>King, Sandra</creatorcontrib><creatorcontrib>Shook, Brian C</creatorcontrib><creatorcontrib>Finlay, Heather Jane</creatorcontrib><title>COMPOUNDS AND METHODS USEFUL FOR STABILIZING PHENYLALANINE HYDROXYLASE MUTATIONS</title><description>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.</description><subject>CHEMISTRY</subject><subject>HETEROCYCLIC COMPOUNDS</subject><subject>METALLURGY</subject><subject>ORGANIC CHEMISTRY</subject><fulltext>true</fulltext><rsrctype>patent</rsrctype><creationdate>2023</creationdate><recordtype>patent</recordtype><sourceid>EVB</sourceid><recordid>eNrjZAhw9vcN8A_1cwlWcPRzUfB1DfHwB7JDg13dQn0U3PyDFIJDHJ08fTyjPP3cFQI8XP0ifRx9HP08_VwVPCJdgvwjgPxgVwXf0BDHEE9_v2AeBta0xJziVF4ozc2g7OYa4uyhm1qQH59aXJCYnJqXWhIfGmxkYGRsbGZqamnkaGhMnCoAgekwtw</recordid><startdate>20231116</startdate><enddate>20231116</enddate><creator>Konteatis, Zenon D</creator><creator>De Pascalis, Lucrezia</creator><creator>King, Sandra</creator><creator>Shook, Brian C</creator><creator>Finlay, Heather Jane</creator><scope>EVB</scope></search><sort><creationdate>20231116</creationdate><title>COMPOUNDS AND METHODS USEFUL FOR STABILIZING PHENYLALANINE HYDROXYLASE MUTATIONS</title><author>Konteatis, Zenon D ; De Pascalis, Lucrezia ; King, Sandra ; Shook, Brian C ; Finlay, Heather Jane</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-epo_espacenet_US2023365592A13</frbrgroupid><rsrctype>patents</rsrctype><prefilter>patents</prefilter><language>eng</language><creationdate>2023</creationdate><topic>CHEMISTRY</topic><topic>HETEROCYCLIC COMPOUNDS</topic><topic>METALLURGY</topic><topic>ORGANIC CHEMISTRY</topic><toplevel>online_resources</toplevel><creatorcontrib>Konteatis, Zenon D</creatorcontrib><creatorcontrib>De Pascalis, Lucrezia</creatorcontrib><creatorcontrib>King, Sandra</creatorcontrib><creatorcontrib>Shook, Brian C</creatorcontrib><creatorcontrib>Finlay, Heather Jane</creatorcontrib><collection>esp@cenet</collection></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext_linktorsrc</fulltext></delivery><addata><au>Konteatis, Zenon D</au><au>De Pascalis, Lucrezia</au><au>King, Sandra</au><au>Shook, Brian C</au><au>Finlay, Heather Jane</au><format>patent</format><genre>patent</genre><ristype>GEN</ristype><title>COMPOUNDS AND METHODS USEFUL FOR STABILIZING PHENYLALANINE HYDROXYLASE MUTATIONS</title><date>2023-11-16</date><risdate>2023</risdate><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.</abstract><oa>free_for_read</oa></addata></record>
fulltext	fulltext_linktorsrc
identifier
ispartof
issn
language	eng
recordid	cdi_epo_espacenet_US2023365592A1
source	esp@cenet
subjects	CHEMISTRY HETEROCYCLIC COMPOUNDS METALLURGY ORGANIC CHEMISTRY
title	COMPOUNDS AND METHODS USEFUL FOR STABILIZING PHENYLALANINE HYDROXYLASE MUTATIONS
url	https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-05T03%3A46%3A38IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-epo_EVB&rft_val_fmt=info:ofi/fmt:kev:mtx:patent&rft.genre=patent&rft.au=Konteatis,%20Zenon%20D&rft.date=2023-11-16&rft_id=info:doi/&rft_dat=%3Cepo_EVB%3EUS2023365592A1%3C/epo_EVB%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/&rfr_iscdi=true