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SIRT1 is a therapeutic target of brain metabolic and developmental consequences of methionine synthase deficiency in inborn errors of cobalamin metabolism

GSE311053 Mus musculus (mouse) ChIP-seq / ATAC-seq (genome binding and open chromatin) 13 samples Submitted 2026/04/01 Platform GPL17021
At a glance

ChIP-seq / ATAC-seq (genome binding and open chromatin) · mouse · 13 samples

What it is
ChIP-seq / ATAC-seq (genome binding and open chromatin)Where proteins bind the genome, or which regions are open and active.
Organism
Mus musculus (mouse)
Samples
13 samples
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)
Inborn errors of vitamin B12 metabolism (IECM) with impaired methionine synthase (MS) activity (encoded by MTR), manifest severe cognitive and neurological symptoms unresponsive to B12 therapy. We explored the effects of Mtr brain-selective deletion at postnatal stage in mouse, identified histone deacetylase SIRT1 as a target of innovative therapy and evaluated the SRT2104 SIRT1 pharmacological activator to reverse alterations.
Read the full summary ↓
We observed hippocampal significant metabolomic, behavioral, epigenome-wide, and proteomic alterations with promoter hypermethylation of pyruvate dehydrogenase and an abolished expression of SIRT1. MS disrupted the SIRT1/Wnt axis, with decreased neurogenesis and increased astrocytosis associated with altered learning abilities in water maze. Treatment with SRT2104 reversed the alterations of TCA, neurogenesis/astrocytosis and cognition. Our data highlight the prominent role of SIRT1 in brain neurodevelopmental and metabolic alterations of IECM, and the SRT2104 SIRT1 pharmacological activator as a promising drug repurposing candidate to treat B12-IECM resistant neurological manifestations.
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 GSE311053_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: Look for peak files (.bed, .narrowPeak) and signal tracks (.bigWig) among the supplementary files; the raw reads are on ENA.

Also filed as BioProject PRJNA1368604 and SRA study SRP648102. Searching any of these in the dataset finder brings you back here.

Samples in this study

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+ 13 more — browse all 13 samples with per-sample file links →

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