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Cockayne syndrome mice reflect human kidney disease and are defective in de novo NAD biosynthesis

GSE246444 Mus musculus (mouse) RNA-seq (gene expression) 28 samples Submitted 2025/08/13 Platform GPL24247
At a glance

RNA-seq (gene expression) · mouse · 28 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
28 samples: 8 conditions, mostly in triplicateGroups 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.
Paper
Cockayne syndrome mice reflect human kidney disease and are defective in de novo NAD biosynthesisCell death and differentiation · 2025
Summary (written by the submitters)
Cockayne Syndrome (CS) is a multi-system premature aging disorder caused by mutations in the genes involved in repairing DNA damage. CS patients display features including short stature, microcephaly, premature aging, neurodegeneration, photosensitivity, vision impairment, hearing loss, and bone and kidney abnormalities. Intracellular nicotinamide dinucleotide (NAD+) deprivation is one of the key molecular characteristics of CS patient-derived cells.
Read the full summary ↓
NAD+ has critical roles in regulating cellular health, stress responses, and is important for maintaining renal homeostasis. While kidney dysfunction has been reported to be an important cause of death in CS patients, the molecular pathogenesis and potential linkage to NAD+ is not understood. In this study, we report kidney pathology in CS model mice, including renal atrophy, decreased glomerular filtration, and various types of lesions centering around the tubular epithelial cells. We further find that the NAD+ biosynthetic pathways are impaired in CS kidney from mice and in human cells.
Published in
Cockayne syndrome mice reflect human kidney disease and are defective in de novo NAD biosynthesis
Pekhale K, Tiwari V, Hussain M et al. · Cell death and differentiation 2025 · PMID 40374849 · doi:10.1038/s41418-025-01522-7
This dataset
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.

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 GSE246444_RAW.tar (it can run to tens of gigabytes).

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.

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 PRJNA1032941 and SRA study SRP468896. Searching any of these in the dataset finder brings you back here.

Study design
8 conditions, mostly in triplicate
HO CSA, Male ×5 WT CSA, Fem ×4 HO CSA, Fem ×4 WT CSB, Fem ×3 CSBm/m, Fem ×3 WT CSB, Male ×3 CSBm/m, Male ×3 WT CSA, Male ×3

Supports a between-group comparison across 28 samples.

How we read this: 8 replicated groups read from 28 sample titles; they account for 28 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
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