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GEO help: Mouse over screen elements for information. |
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| Status |
Public on Jan 01, 2024 |
| Title |
INDYCSB |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
There is currently no established treatment for Cockayne syndrome, a disease characterized by progressive early onset neurodegeneration with features of premature aging and death in childhood. Here, we tested if acetyl-CoA precursors, citrate and beta-hydroxybutyrate, could reduce features of Cockayne syndrome. We identified the gene Helicase 89B (Hel89B) as a homologue of CSB in drosophila and found that the ketone beta-hydroxybutyrate rescued features of premature aging in Hel89B deficient flies. In mammals, loss of the citrate carrier Indy exacerbated the phenotype of Csbm/m mice, rescued by a ketogenic diet. The rescue effect appeared to be mediated through ketone stimulated histone acetylation and facilitation of transcriptional resolution of non-B DNA. Notably, this appears to be a common effect of a ketogenic diet.
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| Overall design |
Examination of transcriptome in cerebella of WT, INDY, CSB and DKO mice, fed standard diet (SD) or ketogenic diet (KD).
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| Contributor(s) |
Scheibye-Knudsen M, Petr MA, Ben Ezra M, Madsen J |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
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| Submission date |
Jul 01, 2022 |
| Last update date |
Jan 01, 2024 |
| Contact name |
Morten Scheibye-Knudsen |
| E-mail(s) |
mscheibye@sund.ku.dk
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| Phone |
+4542507060
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| Organization name |
University of Copenhagen
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| Street address |
Blegdamsvej 3B
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| City |
Copenhagen N |
| State/province |
Copenhagen N |
| ZIP/Postal code |
2200 |
| Country |
Denmark |
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| Platforms (1) |
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| Samples (40)
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| GSM6285111 |
CSBSD, 6 |
| GSM6285112 |
WTKD, 7 |
| GSM6285113 |
CSBSD, 8 |
| GSM6285114 |
INDYSD, 9 |
| GSM6285115 |
INDYSD, 10 |
| GSM6285116 |
INDYSD, 11 |
| GSM6285117 |
WTKD, 12 |
| GSM6285118 |
CSBKD, 13 |
| GSM6285119 |
INDYSD, 14 |
| GSM6285120 |
INDYKD, 15 |
| GSM6285121 |
CSBSD, 16 |
| GSM6285122 |
CSBKD, 18 |
| GSM6285123 |
CSBKD, 19 |
| GSM6285124 |
INDYKD, 20 |
| GSM6285125 |
INDYKD, 21 |
| GSM6285126 |
INDYKD, 22 |
| GSM6285127 |
DKOKD, 23 |
| GSM6285128 |
DKOKD, 24 |
| GSM6285129 |
WTKD, 25 |
| GSM6285130 |
CSBSD, 26 |
| GSM6285131 |
WTKD, 28 |
| GSM6285132 |
CSBSD, 30 |
| GSM6285133 |
CSBSD, 31 |
| GSM6285134 |
INDYSD, 32 |
| GSM6285135 |
INDYSD, 33 |
| GSM6285136 |
DKOSD, 34 |
| GSM6285137 |
DKOSD, 35 |
| GSM6285138 |
DKOSD, 36 |
| GSM6285139 |
WTSD, 39 |
| GSM6285140 |
WTSD, 40 |
| GSM6285141 |
WTSD, 41 |
| GSM6285142 |
WTSD, 42 |
| GSM6285143 |
CSBKD, 43 |
| GSM6285144 |
CSBKD, 44 |
| GSM6285145 |
INDYKD, 45 |
| GSM6285146 |
INDYKD, 46 |
| GSM6285147 |
DKOKD, 47 |
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| Relations |
| BioProject |
PRJNA854940 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE207368_INDYCSB_DESeq2.csv.gz |
8.0 Mb |
(ftp)(http) |
CSV |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data are available on Series record |
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