Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II
This data article contains insights into the methodology used for the analysis of three exonic mutations altering the splicing of the IDS gene: c.241C>T, c.257C>T and c.1122C>T. We have performed splicing assays for the wild-type and mutant minigenes corresponding to these substitutions. In...
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2015-12-01
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| Series: | Data in Brief |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352340915002590 |
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doaj-ace902da51ee423195f805a5d9f87af62020-11-25T00:09:21ZengElsevierData in Brief2352-34092015-12-015C81081710.1016/j.dib.2015.10.011Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS IILiliana Matos0Vânia Gonçalves1Eugénia Pinto2Francisco Laranjeira3Maria João Prata4Peter Jordan5Lourdes R. Desviat6Belén Pérez7Sandra Alves8Research and Development Unit, Department of Human Genetics, INSA, Porto, PortugalResearch and Development Unit, Department of Human Genetics, INSA, Lisbon, PortugalBiochemical Genetics Unit, Center for Medical Genetics Jacinto Magalhães, Porto Hospital Center, Porto, PortugalBiochemical Genetics Unit, Center for Medical Genetics Jacinto Magalhães, Porto Hospital Center, Porto, PortugalDepartment of Biology, Faculty of Sciences, University of Porto, Porto, PortugalResearch and Development Unit, Department of Human Genetics, INSA, Lisbon, PortugalCentro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Universidad Autónoma de Madrid, Madrid, SpainCentro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Universidad Autónoma de Madrid, Madrid, SpainResearch and Development Unit, Department of Human Genetics, INSA, Porto, PortugalThis data article contains insights into the methodology used for the analysis of three exonic mutations altering the splicing of the IDS gene: c.241C>T, c.257C>T and c.1122C>T. We have performed splicing assays for the wild-type and mutant minigenes corresponding to these substitutions. In addition, bioinformatic predictions of splicing regulatory sequence elements as well as RNA interference and overexpression experiments were conducted. The interpretation of these data and further extensive experiments into the analysis of these three mutations and also into the methodology applied to correct one of them can be found in “Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II” Matos et al. (2015) [1].http://www.sciencedirect.com/science/article/pii/S2352340915002590 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Liliana Matos Vânia Gonçalves Eugénia Pinto Francisco Laranjeira Maria João Prata Peter Jordan Lourdes R. Desviat Belén Pérez Sandra Alves |
| spellingShingle |
Liliana Matos Vânia Gonçalves Eugénia Pinto Francisco Laranjeira Maria João Prata Peter Jordan Lourdes R. Desviat Belén Pérez Sandra Alves Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II Data in Brief |
| author_facet |
Liliana Matos Vânia Gonçalves Eugénia Pinto Francisco Laranjeira Maria João Prata Peter Jordan Lourdes R. Desviat Belén Pérez Sandra Alves |
| author_sort |
Liliana Matos |
| title |
Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II |
| title_short |
Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II |
| title_full |
Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II |
| title_fullStr |
Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II |
| title_full_unstemmed |
Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II |
| title_sort |
data in support of a functional analysis of splicing mutations in the ids gene and the use of antisense oligonucleotides to exploit an alternative therapy for mps ii |
| publisher |
Elsevier |
| series |
Data in Brief |
| issn |
2352-3409 |
| publishDate |
2015-12-01 |
| description |
This data article contains insights into the methodology used for the analysis of three exonic mutations altering the splicing of the IDS gene: c.241C>T, c.257C>T and c.1122C>T.
We have performed splicing assays for the wild-type and mutant minigenes corresponding to these substitutions. In addition, bioinformatic predictions of splicing regulatory sequence elements as well as RNA interference and overexpression experiments were conducted.
The interpretation of these data and further extensive experiments into the analysis of these three mutations and also into the methodology applied to correct one of them can be found in “Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II” Matos et al. (2015) [1]. |
| url |
http://www.sciencedirect.com/science/article/pii/S2352340915002590 |
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