Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies
Abstract A hexanucleotide repeat expansion in the C9orf72 gene is a common genetic cause of ALS and FTD. The repeats are translated into five different dipeptide repeat proteins (DPRs). In this issue, Lehmer et al (2017) demonstrate that one of these DPRs, poly(GP), can be measured in the CSF of ind...
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| Format: | Article |
| Language: | English |
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Springer Nature
2017-05-01
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| Series: | EMBO Molecular Medicine |
| Online Access: | https://doi.org/10.15252/emmm.201707848 |
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| _version_ | 1849343619805216768 |
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| author | Rubika Balendra Thomas G Moens Adrian M Isaacs |
| author_facet | Rubika Balendra Thomas G Moens Adrian M Isaacs |
| author_sort | Rubika Balendra |
| collection | DOAJ |
| description | Abstract A hexanucleotide repeat expansion in the C9orf72 gene is a common genetic cause of ALS and FTD. The repeats are translated into five different dipeptide repeat proteins (DPRs). In this issue, Lehmer et al (2017) demonstrate that one of these DPRs, poly(GP), can be measured in the CSF of individuals with C9orf72 mutations. In conjunction with the findings from another recent study (Gendron et al, 2017), these DPR biomarkers may prove to be extremely valuable in the quest for effective therapies for C9FTD/ALS. |
| format | Article |
| id | doaj-art-b3b988c8104142edb72bd52afb5a17e9 |
| institution | Kabale University |
| issn | 1757-4676 1757-4684 |
| language | English |
| publishDate | 2017-05-01 |
| publisher | Springer Nature |
| record_format | Article |
| series | EMBO Molecular Medicine |
| spelling | doaj-art-b3b988c8104142edb72bd52afb5a17e92025-08-20T03:42:56ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842017-05-019785385510.15252/emmm.201707848Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapiesRubika Balendra0Thomas G Moens1Adrian M Isaacs2Department of Neurodegenerative Disease, UCL Institute of NeurologyDepartment of Neurodegenerative Disease, UCL Institute of NeurologyDepartment of Neurodegenerative Disease, UCL Institute of NeurologyAbstract A hexanucleotide repeat expansion in the C9orf72 gene is a common genetic cause of ALS and FTD. The repeats are translated into five different dipeptide repeat proteins (DPRs). In this issue, Lehmer et al (2017) demonstrate that one of these DPRs, poly(GP), can be measured in the CSF of individuals with C9orf72 mutations. In conjunction with the findings from another recent study (Gendron et al, 2017), these DPR biomarkers may prove to be extremely valuable in the quest for effective therapies for C9FTD/ALS.https://doi.org/10.15252/emmm.201707848 |
| spellingShingle | Rubika Balendra Thomas G Moens Adrian M Isaacs Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies EMBO Molecular Medicine |
| title | Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies |
| title_full | Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies |
| title_fullStr | Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies |
| title_full_unstemmed | Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies |
| title_short | Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies |
| title_sort | specific biomarkers for c9orf72 ftd als could expedite the journey towards effective therapies |
| url | https://doi.org/10.15252/emmm.201707848 |
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