CN114787353A - 调节共济蛋白表达和治疗弗里德赖希共济失调的方法和组合物 - Google Patents

调节共济蛋白表达和治疗弗里德赖希共济失调的方法和组合物 Download PDF

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Publication number
CN114787353A
CN114787353A CN202080078749.1A CN202080078749A CN114787353A CN 114787353 A CN114787353 A CN 114787353A CN 202080078749 A CN202080078749 A CN 202080078749A CN 114787353 A CN114787353 A CN 114787353A
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modulator
nucleic acid
fxn
expression
sequence
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Chinese (zh)
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S.卢纳尔迪
A.W.谢德格
J.J.史密斯
J.D.法雷利
J.M.肯尼迪
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Omega Therapeutics Inc
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Omega Therapeutics Inc
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CN202080078749.1A 2019-09-23 2020-09-23 调节共济蛋白表达和治疗弗里德赖希共济失调的方法和组合物 Pending CN114787353A (zh)

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US201962904391P 2019-09-23 2019-09-23
US62/904,391 2019-09-23
PCT/US2020/052101 WO2021061698A1 (en) 2019-09-23 2020-09-23 Methods and compositions for modulating frataxin expression and treating friedrich's ataxia

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CN114787353A true CN114787353A (zh) 2022-07-22

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US (1) US20220348893A1 (https=)
EP (1) EP4034660A4 (https=)
JP (2) JP2022548800A (https=)
CN (1) CN114787353A (https=)
AU (1) AU2020352984A1 (https=)
CA (1) CA3155417A1 (https=)
WO (1) WO2021061698A1 (https=)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20190255106A1 (en) 2016-09-07 2019-08-22 Flagship Pioneering Inc. Methods and compositions for modulating gene expression
CN114729376A (zh) 2019-09-23 2022-07-08 欧米茄治疗公司 用于调节肝细胞核因子4α(HNF4α)基因表达的组合物和方法
WO2023275892A1 (en) * 2021-06-29 2023-01-05 Council Of Scientific & Industrial Research Engineered fncas9 and uses thereof
WO2024163678A2 (en) * 2023-02-01 2024-08-08 Tune Therapeutics, Inc. Fusion proteins and systems for targeted activation of frataxin (fxn) and related methods

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6150091A (en) * 1996-03-06 2000-11-21 Baylor College Of Medicine Direct molecular diagnosis of Friedreich ataxia
US20140187606A1 (en) * 2011-06-09 2014-07-03 Curna, Inc. Treatment of frataxin (fxn) related diseases by inhibition of natural antisense transcript to fxn
US20140315782A1 (en) * 2011-11-18 2014-10-23 Universite Laval Methods and products for increasing frataxin levels and uses thereof
WO2015139139A1 (en) * 2014-03-20 2015-09-24 UNIVERSITé LAVAL Crispr-based methods and products for increasing frataxin levels and uses thereof
WO2018002783A1 (en) * 2016-06-29 2018-01-04 Crispr Therapeutics Ag Materials and methods for treatment of friedreich ataxia and other related disorders

Family Cites Families (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP2954042B1 (en) * 2013-02-07 2017-12-06 The General Hospital Corporation Tale transcriptional activators
CN109476716A (zh) * 2016-03-23 2019-03-15 加利福尼亚大学董事会 治疗线粒体障碍的方法
US11866469B2 (en) * 2019-02-06 2024-01-09 Klogenix Llc DNA binding proteins and uses thereof

Patent Citations (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6150091A (en) * 1996-03-06 2000-11-21 Baylor College Of Medicine Direct molecular diagnosis of Friedreich ataxia
US20140187606A1 (en) * 2011-06-09 2014-07-03 Curna, Inc. Treatment of frataxin (fxn) related diseases by inhibition of natural antisense transcript to fxn
US20140315782A1 (en) * 2011-11-18 2014-10-23 Universite Laval Methods and products for increasing frataxin levels and uses thereof
WO2015139139A1 (en) * 2014-03-20 2015-09-24 UNIVERSITé LAVAL Crispr-based methods and products for increasing frataxin levels and uses thereof
US20180170985A1 (en) * 2014-03-20 2018-06-21 Universitè Laval Crispr-based methods and products for increasing frataxin levels and uses thereof
WO2018002783A1 (en) * 2016-06-29 2018-01-04 Crispr Therapeutics Ag Materials and methods for treatment of friedreich ataxia and other related disorders

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
KHADIJA CHERIF ET AL.: "Increased Frataxin Expression Induced in Friedreich Ataxia Cells by Platinum TALE-VP64s or Platinum TALE-SunTag", MOL THER NUCLEIC ACIDS ., vol. 12, 27 April 2019 (2019-04-27), pages 20 *

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AU2020352984A1 (en) 2022-03-31
WO2021061698A1 (en) 2021-04-01
EP4034660A4 (en) 2023-10-11
JP2025169372A (ja) 2025-11-12
EP4034660A1 (en) 2022-08-03
JP2022548800A (ja) 2022-11-21
US20220348893A1 (en) 2022-11-03
CA3155417A1 (en) 2021-04-01

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