Mitochondrial toxins cause widespread downregulation of pathways in X-linked dystonia-parkinsonism patient-derived neurons.
Paper
Loaded from Europe PMC by your browser, not stored by OSCR: doi.org · Europe PMC
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The authors' code
Rust · 38 lines · 1.5 KB · BSD-3-Clause
- //! Replicate a BAM N times into a larger BAM for align-mode timing benchmarks.
- //! Each copy's records stay contiguous, so per-fragment name grouping (by
- //! adjacency) is preserved — copies are simply counted as additional fragments.
- //!
- //! Usage: replicate_bam <in.bam> <out.bam> <n>
- use noodles_bam as bam;
- use noodles_sam::alignment::io::Write as _;
- fn main() -> anyhow::Result<()> {
- let mut args = std::env::args().skip(1);
- let input = args.next().expect("in.bam");
- let output = args.next().expect("out.bam");
- let n: usize = args.next().expect("n").parse()?;
- // Read the whole input into memory: this is a benchmarking aid run on small
- // BAMs, so simplicity beats streaming.
- let mut reader = bam::io::Reader::new(std::fs::File::open(&input)?);
- let header = reader.read_header()?;
- let recs: Vec<_> = reader
- .record_bufs(&header)
- .collect::<std::io::Result<Vec<_>>>()?;
- eprintln!("read {} records; writing {} copies", recs.len(), n);
- let mut writer = bam::io::Writer::new(std::io::BufWriter::new(std::fs::File::create(&output)?));
- writer.write_header(&header)?;
- // Emit the records N times *in blocks*, not interleaved. Alignment mode
- // groups a fragment's records by adjacency, so each block's copies read as
- // additional fragments rather than corrupting the grouping.
- for _ in 0..n {
- for r in &recs {
- writer.write_alignment_record(&header, r)?;
- }
- }
- writer.finish(&header)?;
- eprintln!("wrote {} records total", recs.len() * n);
- Ok(())
- }
replicate_bam.rs at commit ed926b8, under BSD-3-Clause · at the source
Overview
- Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany
- Medical Systems Biology Group, Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany
- University of Lübeck, Lübeck, Germany
- Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany
- Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg
- University of Santo Tomas, Faculty of Medicine & Surgery - Neurosciences and Research Center for Health Sciences, Manila, Philippines
- Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany
Abstract
The genetic mechanism underlying the neurodegenerative movement disorder X-linked dystonia-parkinsonism (XDP) involves a retrotransposon insertion within the TAF1 gene. TAF1 encodes the TATA-box binding protein-associated factor 1, the largest subunit of the basal transcription factor TFIID, which connects transcription activation to the assembly of the RNA polymerase II preinitiation complex at the core promoter of genes. This study investigated how the TAF1 mutation affects the transcriptomes of XDP patient-derived neurons under basal conditions and in response to mitochondrial toxins. Gene set enrichment analysis revealed that, under basal conditions, patient-derived neurons exhibited predominantly upregulated pathways compared to controls. However, exposure to mitochondrial toxins induced a global shift toward downregulation of pathways in XDP neurons, affecting genome maintenance, epigenetic regulation, adaptive neuronal function, and transcription. Our findings suggest that neurons from XDP patients are more susceptible to mitochondrial stress than controls, leading to widespread transcriptomic downregulation and increased DNA damage.
Reproduced under the paper's license (CC BY), from the paper cited above.
Repositories
Its files are read in the Code ↔ Paper reader above.
COMBINE-lab/Salmon
ed926b8f6120c592ba13e696fe24732004ee0132, 25 September 2026Availability: 1 check, the latest on 27 September 2026: the link answers
- 27 September 2026: the link answers
95 files
- crates/
salmon-align/ , Rust, 38 linesexamples/ replicate_bam.rs - crates/
salmon-align/ , Rust, 900 linessrc/ bam_rad.rs - crates/
salmon-align/ , Rust, 654 linessrc/ error_model.rs - crates/
salmon-align/ , Rust, 751 linessrc/ genome_project.rs - crates/
salmon-align/ , Rust, 3,526 linessrc/ lib.rs - crates/
salmon-align/ , Rust, 2,660 linessrc/ rad.rs - crates/
salmon-align/ , Rust, 80 linestests/ alignment_bias.rs - crates/
salmon-align/ , Rust, 133 linestests/ bootstrap_output.rs - crates/
salmon-align/ , Rust, 577 linestests/ deterministic_bam.rs - crates/
salmon-align/ , Rust, 199 linestests/ output_contract.rs - crates/
salmon-align/ , Rust, 1,278 linestests/ rad_input.rs - crates/
salmon-align/ , Rust, 293 linestests/ rad_lib_format_counts.rs - crates/
salmon-align/ , Rust, 297 linestests/ stranded_num_mapped.rs - crates/
salmon-cli/ , Rust, 51 linesexamples/ cache_bench.rs - crates/
salmon-cli/ , Rust, 31 linessrc/ global_alloc.rs - crates/
salmon-cli/ , Rust, 3,757 linessrc/ main.rs - crates/
salmon-cli/ , Rust, 144 linestests/ decoy_bias.rs - crates/
salmon-cli/ , Rust, 152 linestests/ deterministic_default.rs - crates/
salmon-cli/ , Rust, 196 linestests/ deterministic_skip_quant .rs - crates/
salmon-cli/ , Rust, 224 linestests/ dump_eq_deterministic.rs - crates/
salmon-cli/ , Rust, 241 linestests/ flag_matrix.rs - crates/
salmon-cli/ , Rust, 683 linestests/ input_validation.rs - crates/
salmon-cli/ , Rust, 408 linestests/ metadata_truth.rs - crates/
salmon-cli/ , Rust, 332 linestests/ mode_applicability.rs - crates/
salmon-cli/ , Rust, 166 linestests/ output_contract.rs - crates/
salmon-cli/ , Rust, 226 linestests/ readiness_blockers.rs - crates/
salmon-core/ , Rust, 89 linessrc/ atomic.rs - crates/
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salmon-core/ , Rust, 57 linessrc/ timing.rs - crates/
salmon-eqclass/ , Rust, 894 linessrc/ lib.rs - crates/
salmon-index/ , Rust, 1,661 linessrc/ lib.rs - crates/
salmon-infer/ , Rust, 207 linesbenches/ em_step.rs - crates/
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salmon-infer/ , Rust, 242 linessrc/ online.rs - crates/
salmon-infer/ , Rust, 1,262 linessrc/ packed.rs - crates/
salmon-infer/ , Rust, 583 linessrc/ uncertainty.rs - crates/
salmon-map/ , Rust, 110 linesbenches/ align.rs - crates/
salmon-map/ , Rust, 33 linesexamples/ dump_txome.rs - crates/
salmon-map/ , Rust, 83 linesexamples/ trace_pair.rs - crates/
salmon-map/ , Rust, 190 linesexamples/ trace_reads.rs - crates/
salmon-map/ , Rust, 1,144 linessrc/ align.rs - crates/
salmon-map/ , Rust, 567 linessrc/ chain.rs - crates/
salmon-map/ , Rust, 397 linessrc/ collect.rs - crates/
salmon-map/ , Rust, 628 linessrc/ extend.rs - crates/
salmon-map/ , Rust, 82 linessrc/ lib.rs - crates/
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salmon-map/ , Rust, 138 linessrc/ mem.rs - crates/
salmon-map/ , Rust, 772 linessrc/ pair.rs - crates/
salmon-map/ , Rust, 720 linessrc/ score.rs - crates/
salmon-map/ , Rust, 379 linessrc/ sketch.rs - crates/
salmon-map/ , Rust, 441 linestests/ collect_on_index.rs - crates/
salmon-model/ , Rust, 123 linesexamples/ conv_bench.rs - crates/
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salmon-model/ , Rust, 342 linessrc/ spline.rs - crates/
salmon-quant/ , Rust, 558 linessrc/ bam.rs - crates/
salmon-quant/ , Rust, 405 linessrc/ decode.rs - crates/
salmon-quant/ , Rust, 1,488 linessrc/ lib.rs - crates/
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salmon-quant/ , Rust, 608 linessrc/ output.rs - crates/
salmon-quant/ , Rust, 1,723 linessrc/ processor.rs - crates/
salmon-quant/ , Rust, 139 linessrc/ sam.rs - crates/
salmon-quant/ , Rust, 64 linestests/ bgzf_worker_count.rs - crates/
salmon-quant/ , Rust, 163 linestests/ decoder_per_file.rs - crates/
salmon-quant/ , Rust, 263 linestests/ pool_resize_flush_safety .rs - crates/
salmon-quant/ , Rust, 1,320 linestests/ quant_end_to_end.rs - crates/
salmon-rad/ , Rust, 665 linessrc/ lib.rs - crates/
salmon-rad/ , Rust, 198 linessrc/ record.rs - crates/
salmon-rad/ , Rust, 201 linessrc/ schema.rs - crates/
salmon-rad/ , Rust, 414 linessrc/ writer.rs - crates/
salmon-rad/ , Rust, 527 linestests/ roundtrip.rs - scripts/
bench_em_rad.sh , Shell, 131 lines - scripts/
bump_and_publish.sh , Shell, 212 lines - scripts/
decode_crossover.sh , Shell, 159 lines - scripts/
profile.sh , Shell, 106 lines - website/
src/ , TypeScript, 7 linescontent.config.ts - LICENSE, License, 28 lines
- README.md, Text, 99 lines
pachterlab/sleuth
15457c45697bf9c4e0b593c2a9e187c3bb6a5cb3, 28 May 2025Availability: 1 check, the latest on 28 September 2026: the link answers
- 28 September 2026: the link answers
26 files
- R/
bootstrap.R , R, 525 lines - R/
gene_analysis.R , R, 29 lines - R/
hexamers.R , R, 4,097 lines - R/
import.R , R, 24 lines - R/
kallisto.R , R, 178 lines - R/
likelihood.R , R, 114 lines - R/
matrix.R , R, 61 lines - R/
measurement_error.R , R, 583 lines - R/
misc.R , R, 206 lines - R/
model.R , R, 550 lines - R/
plots.R , R, 1,095 lines - R/
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shiny.R , R, 2,106 lines - R/
sleuth.R , R, 1,306 lines - R/
units.R , R, 52 lines - inst/
scripts/ , Shell, 5 linesgen_hexamers.sh - inst/
scripts/ , Python, 3 lineshexamers.py - tests/
testthat.R , R, 4 lines - tests/
testthat/ , R, 31 lineshelper-setup.R - tests/
testthat/ , R, 33 linestest-analysis.R - tests/
testthat/ , R, 6 linestest-lintr.R - tests/
testthat/ , R, 65 linestest-prep.R - tests/
testthat/ , R, 71 linestest-read.R - vignettes/
intro.Rmd , R, 230 lines - LICENSE, License, 621 lines
- README.md, Text, 74 lines
datapplab/gage
d99df9a469281bb763888db97df56b0d0b41bbc5, 27 August 2022Availability: 1 check, the latest on 28 September 2026: the link answers
- 28 September 2026: the link answers
33 files
- R/
colorpanel.R , R, 35 lines - R/
deComp.R , R, 80 lines - R/
eg2sym.R , R, 3 lines - R/
essGene.R , R, 34 lines - R/
esset.grp.R , R, 160 lines - R/
gage-internal.R , R, 126 lines - R/
gage.R , R, 23 lines - R/
gageComp.R , R, 49 lines - R/
gagePipe.R , R, 176 lines - R/
gagePrep.R , R, 94 lines - R/
gageSum.R , R, 88 lines - R/
geneData.R , R, 109 lines - R/
go.gsets.R , R, 58 lines - R/
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gs.KSTest.R , R, 66 lines - R/
gs.heatmap.R , R, 33 lines - R/
gs.tTest.R , R, 63 lines - R/
gs.zTest.R , R, 59 lines - R/
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heter.gage.R , R, 9 lines - R/
invalid.R , R, 10 lines - R/
kegg.gsets.R , R, 56 lines - R/
kegg.species.code.R , R, 34 lines - R/
odd.R , R, 2 lines - R/
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readExpData.R , R, 3 lines - R/
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sigGeneSet.R , R, 94 lines - R/
sym2eg.R , R, 3 lines - R/
vennCounts.R , R, 22 lines - R/
vennDiagram2.R , R, 92 lines - README.md, Text, 65 lines
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Data
Datasets cited
- geo:GSE300875, at NCBI GEO; found in “Data and code availability”
Data and code availability
RNA-seq data have been deposited at GEO: GSE300875 (https://
Reproduced under the paper's license (CC BY), from the paper cited above.
Versions
The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.
Version 2, 28 September 2026
- Authors: added Philip Seibler (0000-0002-3496-7194); removed Philip Seibler
Version 1, 28 September 2026: the first record
Recorded: type, language, journal, volume, issue, pages, dates, 12 authors, 5 keywords, 12 MeSH terms, 3 funders, 29 references, 5 RRIDs.
Cite
This paper
Grütz, K., Künstner, A., Krause, C., Santinelli, L., Franzenburg, S., Ghelfi, J., Grünewald, A., Rosales, R. L., Brüggemann, N., Busch, H., Klein, C., & Seibler, P. (2026). Mitochondrial toxins cause widespread downregulation of pathways in X-linked dystonia-parkinsonism patient-derived neurons. Stem cell reports, 21(6), 102920. https://
BibTeX
@article{grutz2026mitoch
author = {Grütz, Karen and Künstner, Axel and Krause, Christin and Santinelli, Letizia and Franzenburg, Sören and Ghelfi, Jenny and Grünewald, Anne and Rosales, Raymond L and Brüggemann, Norbert and Busch, Hauke and Klein, Christine and Seibler, Philip},
title = {{Mitochondrial toxins cause widespread downregulation of pathways in X-linked dystonia-parkinsonism patient-derived neurons}},
journal = {Stem cell reports},
year = {2026},
month = may,
volume = {21},
number = {6},
pages = {102920},
publisher = {Elsevier},
issn = {2213-6711},
doi = {10.1016/
url = {https://
pmid = {42102821},
pmcid = {PMC13261877}
}
RIS
TY - JOUR
AU - Grütz, Karen
AU - Künstner, Axel
AU - Krause, Christin
AU - Santinelli, Letizia
AU - Franzenburg, Sören
AU - Ghelfi, Jenny
AU - Grünewald, Anne
AU - Rosales, Raymond L
AU - Brüggemann, Norbert
AU - Busch, Hauke
AU - Klein, Christine
AU - Seibler, Philip
TI - Mitochondrial toxins cause widespread downregulation of pathways in X-linked dystonia-parkinsonism patient-derived neurons
T2 - Stem cell reports
J2 - Stem Cell Reports
PY - 2026
DA - 2026/
VL - 21
IS - 6
SP - 102920
SN - 2213-6711
PB - Elsevier
DO - 10.1016/
UR - https://
LA - en
ER -
CSL-JSON
{
"id": "10.1016/
"type": "article-journal",
"title": "Mitochondrial toxins cause widespread downregulation of pathways in X-linked dystonia-parkinsonism patient-derived neurons",
"container-title": "Stem cell reports",
"author": [
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"family": "Grütz",
"given": "Karen"
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{
"family": "Künstner",
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},
{
"family": "Krause",
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"given": "Sören"
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{
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"given": "Anne"
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{
"family": "Rosales",
"given": "Raymond L"
},
{
"family": "Brüggemann",
"given": "Norbert"
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{
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}
],
"container-title-short":
"volume": "21",
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"issued": {
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