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Alzheimer's disease associated Presenilin 2 N141I mutation impairs neuronal lipid homeostasis and mitochondrial dynamics through selective downregulation of the Golgi exchange factor Gbf1

GSE328769 Mus musculus (mouse) RNA-seq (gene expression) 16 samples Submitted 2026/05/26 Platform GPL24247
At a glance

RNA-seq (gene expression) · mouse · 16 samples

What it is
RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
Organism
Mus musculus (mouse)
Samples
16 samples: 4 × Mouse hippocampus, human PS2 N141I transgene, S vs 4 × Mouse hippocampus, PS2 heterozygous knock-out, S vs 4 × Mouse hippocampus, wild-type, S vs 4 × Mouse hippocampus, PS2 homozygous knock-out, SGroups are read from the sample names, not from the paper. Check the list below.
Data you can get
A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Summary (written by the submitters)
Presenilin 2 (PS2) mutations cause familial Alzheimer's disease, yet their effects beyond amyloid processing remain poorly understood. Here, we investigated how PS2 deletion and the N141I mutation affect neuronal lipid homeostasis and mitochondrial dynamics using PS2-deficient and PS2-mutant (N141I) mouse primary neurons. Both PS2 deletion and N141I mutation reduced neuronal lipid content; however, exogenous lipid supplementation rescued the deficit only in N141I-expressing neurons, indicating a partial loss-of-function.
Read the full summary ↓
Furthermore, N141I neurons displayed reduced OPA1, a mitochondrial fusion regulator, which was restored by lipid supplementation. RNA-sequencing identified Gbf1, a Golgi-specific guanine nucleotide exchange factor, as selectively downregulated in N141I but not knockout tissue, which was confirmed at protein level in mouse brain and primary neurons. These results reveal a PS2-Gbf1-mitochondria axis disrupted specifically by the N141I mutation, suggesting an amyloid-independent pathway contributing to neurodegeneration and identifying potential therapeutic targets for familial Alzheimer's disease.
This dataset
Open GSE328769 in finder → Find more mouse RNA-seq datasets →
Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

Series matrix ↓
2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE328769_RAW.tar (it can run to tens of gigabytes).

All supplementary files ↗ Whole study · RAW.tar ↓
3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

Raw reads on ENA ↗

What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.

Also filed as BioProject PRJNA1456493 and SRA study SRP693901. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗
Study design
4 × Mouse hippocampus, human PS2 N141I transgene, S vs 4 × Mouse hippocampus, PS2 heterozygous knock-out, S vs 4 × Mouse hippocampus, wild-type, S vs 4 × Mouse hippocampus, PS2 homozygous knock-out, S

Supports a between-group comparison across 16 samples.

How we read this: 4 replicated groups read from 16 sample titles; they account for 16 of them. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.

Samples in this study
Datasets on a similar topic

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Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.