Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Isabel, Aznarez"'
Autor:
Kian Huat Lim, Zhou Han, Hyun Yong Jeon, Jacob Kach, Enxuan Jing, Sebastien Weyn-Vanhentenryck, Mikaela Downs, Anna Corrionero, Raymond Oh, Juergen Scharner, Aditya Venkatesh, Sophina Ji, Gene Liau, Barry Ticho, Huw Nash, Isabel Aznarez
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Restoration of normal gene expression is one way to treat monogenic disorders. Here the authors target naturally occurring non-productive alternative splicing using antisense oligonucleotides to promote the production of functional proteins.
Externí odkaz:
https://doaj.org/article/b4b17242c1b24dc9905cc03dd97077f2
Autor:
Isabel Aznarez, Juergen Scharner
Publikováno v:
Molecular Therapy
Single-stranded oligonucleotides have been explored as a therapeutic modality for more than 20 years. Only during the last 5 years have single-stranded oligonucleotides become a modality of choice in the fields of precision medicine and targeted ther
Autor:
Huw M. Nash, Barry Ticho, Juergen Scharner, Mikaela Downs, Hyun Yong Jeon, Sebastien M. Weyn-Vanhentenryck, Sophina Ji, Anna Corrionero, Isabel Aznarez, Enxuan Jing, Kian-Huat Lim, Jacob Kach, Aditya Venkatesh, Zhou Han, Raymond S Oh, Gene Liau
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Nature Communications
Nature Communications
While most monogenic diseases are caused by loss or reduction of protein function, the need for technologies that can selectively increase levels of protein in native tissues remains. Here we demonstrate that antisense-mediated modulation of pre-mRNA
Autor:
Qian Lin, Zhou Han, Lori L. Isom, Charles Anumonwo, Meena, Isabel Aznarez, Anne Christiansen, Gene Liau, Chunling Chen, Sophina Ji, Steven C. Leiser, Chante Liu
Publikováno v:
Science Translational Medicine. 12
Dravet syndrome (DS) is an intractable developmental and epileptic encephalopathy caused largely by de novo variants in the SCN1A gene, resulting in haploinsufficiency of the voltage-gated sodium channel α subunit NaV1.1. Here, we used Targeted Augm
Autor:
Oliver I. Fregoso, Mohammad Alinoor Rahman, Jaclyn Tetenbaum-Novatt, Adrian R. Krainer, Tomoki T. Nomakuchi, Holly A. Rees, Isabel Aznarez
Publikováno v:
Cell reports
SUMMARY The splicing factor SRSF1 promotes nonsense-mediated mRNA decay (NMD), a quality control mechanism that degrades mRNAs with premature termination codons (PTCs). Here we show that transcript-bound SRSF1 increases the binding of NMD factor UPF1
Autor:
Zhou, Han, Chunling, Chen, Anne, Christiansen, Sophina, Ji, Qian, Lin, Charles, Anumonwo, Chante, Liu, Steven C, Leiser, Meena, Isabel, Aznarez, Gene, Liau, Lori L, Isom
Publikováno v:
Science translational medicine. 12(558)
Dravet syndrome (DS) is an intractable developmental and epileptic encephalopathy caused largely by de novo variants in the
Publikováno v:
Nature biotechnology
Nonsense-mediated mRNA decay (NMD) is a cellular quality-control mechanism that is thought to exacerbate the phenotype of certain pathogenic nonsense mutations by preventing the expression of semi-functional proteins. NMD also limits the efficacy of
Autor:
Julian Zielenski, Liria Martínez, Beatriz Crispino, Lap-Chee Tsui, Rossana Poggio, Horacio Cardoso, Adriana Mimbacas, Isabel Aznarez, Gerardo Luzardo
Publikováno v:
Genetics and Molecular Research. 1:32-38
We conducted clinical and genetic analyses of 52 cystic fibrosis (CF) patients in Uruguay, which is about half of the known affected individuals in the country. A relatively high proportion had a mild presentation, characterized by pancreatic suffici
Autor:
Benjamin J. Blencowe, Johanna M. Rommens, Lap-Chee Tsui, John Parkinson, Yoseph Barash, Julian Zielenski, Brendan J. Frey, Ofer Shai, Isabel Aznarez, David He
To identify human intronic sequences associated with 5′ splice site recognition, we performed a systematic search for motifs enriched in introns downstream of both constitutive and alternative cassette exons. Significant enrichment was observed for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0a90f59db9e59012569b5f5aa0eafa5
http://hdl.handle.net/10722/138687
http://hdl.handle.net/10722/138687
Nonsense mutations that occur more than 50 bases upstream of terminal spliced junctions are generally thought to lead to degradation of the corresponding transcripts by the process of nonsense-mediated mRNA decay. It has also been proposed that some
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7db5d86ce5b2d102e8d1df2ec732262
http://hdl.handle.net/10722/143112
http://hdl.handle.net/10722/143112