Christoph Freyer

Stockholm, AB 17176, Sweden

Last Updated: 09/26/2026

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Found 47 publications

Loss of the mitochondrial SAM transporter reveals a lipoylation-dependent metabolic vulnerability in the postnatal heart.

Loss of the mitochondrial SAM transporter reveals a lipoylation-dependent metabolic vulnerability in the postnatal heart.

Journal: Science advances
Published: August 26, 2026

Mitochondrial RNA polyadenylation: Defining RNA fate through 3' end regulation.

Mitochondrial RNA polyadenylation: Defining RNA fate through 3' end regulation.

Journal: Biochimica et biophysica acta. Molecular cell research
Published: May 15, 2026

MitoSAM-dependent lipoylation controls postnatal heart development via metabolic remodeling.

MitoSAM-dependent lipoylation controls postnatal heart development via metabolic remodeling.

Journal: bioRxiv : the preprint server for biology
Published: May 04, 2026

MRPS22 variants alter mitochondrial ribosome assembly in patients with leukodystrophy, movement disorder and intellectual impairment.

MRPS22 variants alter mitochondrial ribosome assembly in patients with leukodystrophy, movement disorder and intellectual impairment.

Journal: Human molecular genetics
Published: December 09, 2025

Advancing a sensitive method for measuring mitochondrial ATP production in small muscle biopsy samples.

Advancing a sensitive method for measuring mitochondrial ATP production in small muscle biopsy samples.

Journal: Analytical biochemistry
Published: September 03, 2025

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.

Journal: Genome medicine
Published: May 31, 2025

The mitochondrial methylation potential gates mitoribosome assembly.

The mitochondrial methylation potential gates mitoribosome assembly.

Journal: Nature communications
Published: November 13, 2024

The molecular machinery for maturation of primary mtDNA transcripts.

The molecular machinery for maturation of primary mtDNA transcripts.

Journal: Human molecular genetics
Published: January 31, 2024

Preventing excessive autophagy protects from the pathology of mtDNA mutations in Drosophila melanogaster.

Preventing excessive autophagy protects from the pathology of mtDNA mutations in Drosophila melanogaster.

Journal: Nature communications
Published: January 24, 2024

Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease.

Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease.

Journal: JCI insight
Published: December 19, 2023

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.

Journal: Human mutation
Published: October 20, 2023

ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing.

ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing.

Journal: Nature communications
Published: March 15, 2022
Showing 1-12 of 47

Last Updated: 09/26/2026