Publications:

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Therapeutic applications of gene editing in chronic liver diseases: an update.

Bmb Reports

Shin, Ji Hyun JH; Lee, Jinho J; Jung, Yun Kyung YK; Kim, Kyeong Sik KS; Jeong, Jaemin J; Choi, Dongho D

Publication Date: 2022-06

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PubMed Link: 35651324

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• bmb-55-6-251.pdf

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A universal strategy for AAV delivery of base editors to correct genetic point mutations in neonatal PKU mice.

Molecular Therapy. Methods & Clinical Development

Zhou, Lifang L; Su, Jing J; Long, Jie J; Tao, Rui R; Tang, Wenling W; Qin, Fengming F; Liu, Nan N; Wang, Yanhong Y; Jiao, Yaoge Y; Hu, Yun Y; Jiang, Lurong L; Li, Li L; Yang, Yang Y; Yao, Shaohua S

Publication Date: 2022-03-10

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PubMed Link: 35141352

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In vivo cytidine base editing of hepatocytes without detectable off-target mutations in RNA and DNA.

Nature Biomedical Engineering

Villiger, Lukas L; Rothgangl, Tanja T; Witzigmann, Dominik D; Oka, Rurika R; Lin, Paulo J C PJC; Qi, Weihong W; Janjuha, Sharan S; Berk, Christian C; Ringnalda, Femke F; Beattie, Mitchell B MB; Stoffel, Markus M; Thöny, Beat B; Hall, Jonathan J; Rehrauer, Hubert H; van Boxtel, Ruben R; Tam, Ying K YK; Schwank, Gerald G

Publication Date: 2021-02

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PubMed Link: 33495639

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• EMS114737.pdf

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Long-Term Metabolic Correction of Phenylketonuria by AAV-Delivered Phenylalanine Amino Lyase.

Molecular Therapy. Methods & Clinical Development

Tao, Rui R; Xiao, Lin L; Zhou, Lifang L; Zheng, Zhaoyue Z; Long, Jie J; Zhou, Lixing L; Tang, Minghai M; Dong, Biao B; Yao, Shaohua S

Publication Date: 2020-12-11

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PubMed Link: 33335942

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A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency.

Molecular Genetics And Metabolism

Richards, Daelyn Y DY; Winn, Shelley R SR; Dudley, Sandra S; Fedorov, Lev L; Rimann, Nicole N; Thöny, Beat B; Harding, Cary O CO

Publication Date: 2020-11

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PubMed Link: 33051130

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Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU).

Molecular Frontiers Journal

Harding, Cary O CO

Publication Date: 2019-12

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PubMed Link: 32524084

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• nihms-1578049.pdf

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Genome editing technologies to treat rare liver diseases.

Translational Gastroenterology And Hepatology

Trevisan, Marta M; Masi, Giulia G; Palù, Giorgio G

Publication Date: 2020

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PubMed Link: 32258527

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Sustained Correction of a Murine Model of Phenylketonuria following a Single Intravenous Administration of AAVHSC15-PAH.

Molecular Therapy. Methods & Clinical Development

Ahmed, Seemin S SS; Rubin, Hillard H; Wang, Minglun M; Faulkner, Deiby D; Sengooba, Arnold A; Dollive, Serena N SN; Avila, Nancy N; Ellsworth, Jeff L JL; Lamppu, Diana D; Lobikin, Maria M; Lotterhand, Jason J; Adamson-Small, Laura L; Wright, Teresa T; Seymour, Albert A; Francone, Omar L OL

Publication Date: 2020-06-12

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PubMed Link: 32258219

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AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria.

Molecular Therapy. Methods & Clinical Development

Richards, Daelyn Y DY; Winn, Shelley R SR; Dudley, Sandra S; Nygaard, Sean S; Mighell, Taylor L TL; Grompe, Markus M; Harding, Cary O CO

Publication Date: 2020-06-12

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PubMed Link: 31970201

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State-of-the-Art 2019 on Gene Therapy for Phenylketonuria.

Human Gene Therapy

Grisch-Chan, Hiu Man HM; Schwank, Gerald G; Harding, Cary O CO; Thöny, Beat B

Publication Date: 2019-10

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PubMed Link: 31364419

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Bending of DNA duplexes with mutation motifs.

Dna Research : An International Journal For Rapid Publication Of Reports On Genes And Genomes

Růžička, Michal M; Souček, Přemysl P; Kulhánek, Petr P; Radová, Lenka L; Fajkusová, Lenka L; Réblová, Kamila K

Publication Date: 2019-08-01

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PubMed Link: 31230075

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Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.

Genes

Pecimonova, Martina M; Kluckova, Daniela D; Csicsay, Frantisek F; Reblova, Kamila K; Krahulec, Jan J; Procházkova, Dagmar D; Skultety, Ludovit L; Kadasi, Ludevit L; Soltysova, Andrea A

Publication Date: 2019-06-15

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PubMed Link: 31208052

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Gene and Base Editing as a Therapeutic Option for Cystic Fibrosis-Learning from Other Diseases.

Genes

Mention, Karen K; Santos, Lúcia L; Harrison, Patrick T PT

Publication Date: 2019-05-21

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PubMed Link: 31117296

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• genes-10-00387.pdf

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Low-Dose Gene Therapy for Murine PKU Using Episomal Naked DNA Vectors Expressing PAH from Its Endogenous Liver Promoter.

Molecular Therapy. Nucleic Acids

Grisch-Chan, Hiu Man HM; Schlegel, Andrea A; Scherer, Tanja T; Allegri, Gabriella G; Heidelberger, Raphael R; Tsikrika, Panagiota P; Schmeer, Marco M; Schleef, Martin M; Harding, Cary O CO; Häberle, Johannes J; Thöny, Beat B

Publication Date: 2017-06-16

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PubMed Link: 28624210

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A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liver.

Molecular Therapy. Nucleic Acids

Gallego-Villar, Lorena L; Viecelli, Hiu Man HM; Pérez, Belén B; Harding, Cary O CO; Ugarte, Magdalena M; Thöny, Beat B; Desviat, Lourdes R LR

Publication Date: 2014-09-16

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PubMed Link: 25226162

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• mtna201444a.pdf

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Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria.

Molecular Genetics And Metabolism

Sarkissian, Christineh N CN; Kang, Tse Siang TS; Gámez, Alejandra A; Scriver, Charles R CR; Stevens, Raymond C RC

Publication Date: 2011-11

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PubMed Link: 21803624

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Tissue-specific activation of mitogen-activated protein kinases for expression of transthyretin by phenylalanine and its metabolite, phenylpyruvic acid.

Experimental & Molecular Medicine

Park, Joo Won JW; Lee, Mi Hee MH; Choi, Jin Ok JO; Park, Hae Young HY; Jung, Sung Chul SC

Publication Date: 2010-02-28

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PubMed Link: 19946178

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Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria.

The Journal Of Clinical Investigation

Pey, Angel L AL; Ying, Ming M; Cremades, Nunilo N; Velazquez-Campoy, Adrian A; Scherer, Tanja T; Thöny, Beat B; Sancho, Javier J; Martinez, Aurora A

Publication Date: 2008-08

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PubMed Link: 18596920

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