Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells. (Record no. 24808698)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01753 a2200493 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517025526.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201507s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1362-4962 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/nar/gkv275 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Palhais, Bruno |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150731 |
| 245 00 - TITLE STATEMENT | |
| Title | Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nucleic acids research |
| Date of publication, distribution, etc. | May 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 4627-39 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Anemia, Megaloblastic |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Line |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ferredoxin-NADP Reductase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HEK293 Cells |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homocystinuria |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oligonucleotides |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splice Sites |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splicing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Regulatory Sequences, Ribonucleic Acid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Præstegaard, Veronica S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sabaratnam, Rugivan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Doktor, Thomas Koed |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lutz, Seraina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burda, Patricie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Suormala, Terttu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baumgartner, Matthias |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fowler, Brian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bruun, Gitte Hoffmann |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Andersen, Henriette Skovgaard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kožich, Viktor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Andresen, Brage Storstein |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nucleic acids research |
| Related parts | vol. 43 |
| -- | no. 9 |
| -- | p. 4627-39 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/nar/gkv275">https://doi.org/10.1093/nar/gkv275</a> |
| Public note | Available from publisher's website |
No items available.