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| Status |
Public on Apr 29, 2024 |
| Title |
Altered lipid homeostasis underlies selective neurodegeneration in SNX14 deficiency [1 yr] |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
Spinocerebellar Ataxia Autosomal Recessive 20 (SCAR20) is a rare disorder caused by mutation in the SNX14 gene. The symptoms of the disorder including coarse face, poor or lack of speech, delayed or absent of motor function, and most markedly, cerebella atrophy with Purkinje cell degeneration. SNX14 has been localized to ER and shown to play a vital role in facilitating the formation of lipid droplet and maintaining the lipid saturation balance in cell membrane. Meanwhile, it has also been localized to other subcellular organelles, including lysosome and endo-lysosome, and has been suggested to participate in the autophagy responses. However, the previous researches were performed in vitro or ex vivo, and how disrupted SNX14 led to Purkinje cell degeneration in the SCAR20 cerebella in vivo remained unexplored. Here, we report the first animal model that manifested the SCAR20 symptoms, by introducing a 1bp deletion in Snx14 in mice via CRISPR-Cas9. We performed RNAseq to analyse the pathway changes caused by Snx14 KO.
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| Overall design |
We then performed gene expression profiling analysis using data obtained from RNA-seq of cerebella and cortices from 2-3 mice of SNX14 KO mice and their control littermates.
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| Contributor(s) |
Zhou Y, Aquizu-Lopez N |
| Citation(s) |
38625743 |
| |
| Submission date |
Oct 14, 2022 |
| Last update date |
Jun 12, 2024 |
| Contact name |
Thomas Roule |
| E-mail(s) |
roulet@chop.edu
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| Organization name |
CHOP
|
| Lab |
Akizu Lab
|
| Street address |
3501 Civic Center Boulevard 5th Floor CTRB-5400
|
| City |
Philadelphia |
| State/province |
Pennsylvania |
| ZIP/Postal code |
19104 |
| Country |
USA |
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| Platforms (1) |
| GPL13112 |
Illumina HiSeq 2000 (Mus musculus) |
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| Samples (10)
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| GSM6642067 |
1 year cerebellum from contorl mouse 1 [171HetCB] |
| GSM6642068 |
1 year cerebellum from control mouse 2 [175HetCB] |
| GSM6642069 |
1 year cerebellum from control mouse 3 [474WTCB] |
| GSM6642070 |
1 year cerebellum from KO mouse 1 [174MTCB] |
| GSM6642071 |
1 year cerebellum from KO mouse 2 [177MTCB] |
| GSM6642072 |
1 year cortex from contorl mouse 1 [171HetCX] |
| GSM6642073 |
1 year cortex tissue from control mouse 2 [175HetCX] |
| GSM6642074 |
1 year cortex tissue from control mouse 3 [474WTCX] |
| GSM6642075 |
1 year cortex tissue from KO mouse 1 [174MTCX] |
| GSM6642076 |
1 year cortex tissue from KO mouse 2 [177MTCX] |
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| This SubSeries is part of SuperSeries: |
| GSE215834 |
Altered lipid homeostasis underlies selective neurodegeneration in SNX14 deficiency. |
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| Relations |
| BioProject |
PRJNA890682 |
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