Methods for identification of genetic modifiers and for treating nucleotide repeat disorder
The present disclosure relates to a method of identifying a genetic modifier of a nucleotide repeat disorder, comprising selecting from the subjects the late-onset subjects with higher nucleotide repeat load or the early-onset subjects with lower nucleotide repeat load and identifying one or more ge...
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| creator | TSAI, YU-SHUEN SOONG, BING-WEN CHERN, YI-JUANG SU, MING-TSAN CHENG, TZU-HAO LEE, YAN HUA CHANG, YIING YANG, UENGNG |
| description | The present disclosure relates to a method of identifying a genetic modifier of a nucleotide repeat disorder, comprising selecting from the subjects the late-onset subjects with higher nucleotide repeat load or the early-onset subjects with lower nucleotide repeat load and identifying one or more genetic modifiers delaying or promoting onset of a nucleotide repeat disorder. The present disclosure also relates to a method for treating or preventing a polyglutamine (polyQ) expansion disease in a subject in need of such treatment or prevention, comprising administering an effective amount of a PIAS1 variant or a recombinant nucleic acid molecule encoding the PIAS1 variant to the subject. The present disclosure also relates to a method for treating or preventing early symptom onset of the polyglutamine expansion disease, a PIAS1 variant, comprising one or more sequence changes located in the C-terminal region of PIAS1 and a recombinant nucleic acid molecule encoding the PIAS1 variant as disclosed herein. |
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The present disclosure also relates to a method for treating or preventing a polyglutamine (polyQ) expansion disease in a subject in need of such treatment or prevention, comprising administering an effective amount of a PIAS1 variant or a recombinant nucleic acid molecule encoding the PIAS1 variant to the subject. The present disclosure also relates to a method for treating or preventing early symptom onset of the polyglutamine expansion disease, a PIAS1 variant, comprising one or more sequence changes located in the C-terminal region of PIAS1 and a recombinant nucleic acid molecule encoding the PIAS1 variant as disclosed herein.</description><language>chi ; eng</language><subject>BEER ; BIOCHEMISTRY ; CHEMISTRY ; COMPOSITIONS OR TEST PAPERS THEREFOR ; COMPOSITIONS THEREOF ; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES ; CULTURE MEDIA ; ENZYMOLOGY ; HUMAN NECESSITIES ; HYGIENE ; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS ; MEDICAL OR VETERINARY SCIENCE ; METALLURGY ; MICROBIOLOGY ; MICROORGANISMS OR ENZYMES ; MUTATION OR GENETIC ENGINEERING ; PROCESSES OF PREPARING SUCH COMPOSITIONS ; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS ; SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS ORMEDICINAL PREPARATIONS ; SPIRITS ; VINEGAR ; WINE</subject><creationdate>2022</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=20220316&DB=EPODOC&CC=TW&NR=202210634A$$EHTML$$P50$$Gepo$$Hfree_for_read</linktohtml><link.rule.ids>230,308,776,881,25544,76293</link.rule.ids><linktorsrc>$$Uhttps://worldwide.espacenet.com/publicationDetails/biblio?FT=D&date=20220316&DB=EPODOC&CC=TW&NR=202210634A$$EView_record_in_European_Patent_Office$$FView_record_in_$$GEuropean_Patent_Office$$Hfree_for_read</linktorsrc></links><search><creatorcontrib>TSAI, YU-SHUEN</creatorcontrib><creatorcontrib>SOONG, BING-WEN</creatorcontrib><creatorcontrib>CHERN, YI-JUANG</creatorcontrib><creatorcontrib>SU, MING-TSAN</creatorcontrib><creatorcontrib>CHENG, TZU-HAO</creatorcontrib><creatorcontrib>LEE, YAN HUA</creatorcontrib><creatorcontrib>CHANG, YIING</creatorcontrib><creatorcontrib>YANG, UENGNG</creatorcontrib><title>Methods for identification of genetic modifiers and for treating nucleotide repeat disorder</title><description>The present disclosure relates to a method of identifying a genetic modifier of a nucleotide repeat disorder, comprising selecting from the subjects the late-onset subjects with higher nucleotide repeat load or the early-onset subjects with lower nucleotide repeat load and identifying one or more genetic modifiers delaying or promoting onset of a nucleotide repeat disorder. The present disclosure also relates to a method for treating or preventing a polyglutamine (polyQ) expansion disease in a subject in need of such treatment or prevention, comprising administering an effective amount of a PIAS1 variant or a recombinant nucleic acid molecule encoding the PIAS1 variant to the subject. 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The present disclosure also relates to a method for treating or preventing a polyglutamine (polyQ) expansion disease in a subject in need of such treatment or prevention, comprising administering an effective amount of a PIAS1 variant or a recombinant nucleic acid molecule encoding the PIAS1 variant to the subject. The present disclosure also relates to a method for treating or preventing early symptom onset of the polyglutamine expansion disease, a PIAS1 variant, comprising one or more sequence changes located in the C-terminal region of PIAS1 and a recombinant nucleic acid molecule encoding the PIAS1 variant as disclosed herein.</abstract><oa>free_for_read</oa></addata></record> |
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| subjects | BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR COMPOSITIONS THEREOF CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES CULTURE MEDIA ENZYMOLOGY HUMAN NECESSITIES HYGIENE MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS MEDICAL OR VETERINARY SCIENCE METALLURGY MICROBIOLOGY MICROORGANISMS OR ENZYMES MUTATION OR GENETIC ENGINEERING PROCESSES OF PREPARING SUCH COMPOSITIONS PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS ORMEDICINAL PREPARATIONS SPIRITS VINEGAR WINE |
| title | Methods for identification of genetic modifiers and for treating nucleotide repeat disorder |
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