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Series GSE215831 Query DataSets for GSE215831
Status Public on Apr 29, 2024
Title Altered lipid homeostasis underlies selective neurodegeneration in SNX14 deficiency [1 month]
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.
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.
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
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
Platforms (1)
GPL24247 Illumina NovaSeq 6000 (Mus musculus)
Samples (12)
GSM6642055 1 month cerebellum from WT mouse 1 [S_CB_WT1]
GSM6642056 1 month cerebellum from WT mouse 2 [S_CB_WT2]
GSM6642057 1 month cerebellum from WT mouse 3 [S_CB_WT3]
This SubSeries is part of SuperSeries:
GSE215834 Altered lipid homeostasis underlies selective neurodegeneration in SNX14 deficiency.
BioProject PRJNA890683

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Supplementary file Size Download File type/resource
GSE215831_RAW.tar 465.8 Mb (http)(custom) TAR (of BW, TXT)
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Raw data are available in SRA
Processed data provided as supplementary file

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