{"entity": "researcher", "timestamp": "2026-07-11T14:59:39.745Z", "family": "Wredenberg", "given": "Anna", "initials": "A", "orcid": "0000-0002-2500-6121", "affiliations": ["Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.", "Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.", "Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Karolinska Institutet, Stockholm, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/3ea9ee7305424cdb8c238ef569e5be03.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/3ea9ee7305424cdb8c238ef569e5be03"}}, "publications": [{"entity": "publication", "iuid": "30c686df62fe461f86a6429840e60bef", "links": {"self": {"href": "https://publications.scilifelab.se/publication/30c686df62fe461f86a6429840e60bef.json"}, "display": {"href": "https://publications.scilifelab.se/publication/30c686df62fe461f86a6429840e60bef"}}, "title": "Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023.", "authors": [{"family": "S\u00f6rensen", "given": "Lene", "initials": "L", "orcid": "0000-0002-0309-4247", "researcher": {"href": "https://publications.scilifelab.se/researcher/81e4acdb19cc45558e9414b39d518d62.json"}}, {"family": "Asin-Cayuela", "given": "Jorge", "initials": "J", "orcid": "0000-0003-0609-5760", "researcher": {"href": "https://publications.scilifelab.se/researcher/a8a9fb9921c54276b2212b64db43606e.json"}}, {"family": "Barbaro", "given": "Michela", "initials": "M", "orcid": "0000-0002-7598-9330", "researcher": {"href": "https://publications.scilifelab.se/researcher/aa6b9b246e0d4187be04071f5a53574f.json"}}, {"family": "Bruhn", "given": "Helene", "initials": "H", "orcid": "0009-0007-4449-5382", "researcher": {"href": "https://publications.scilifelab.se/researcher/789656ba85444c398bd2ebc03283f992.json"}}, {"family": "Engvall", "given": "Martin", "initials": "M", "orcid": "0000-0002-8339-3545", "researcher": {"href": "https://publications.scilifelab.se/researcher/eb742d63d69d42849f0cd842ecad88c8.json"}}, {"family": "Lesko", "given": "Nicole", "initials": "N", "orcid": "0000-0001-8770-1878", "researcher": {"href": "https://publications.scilifelab.se/researcher/59b2ed29329e449bbe832174668d1d82.json"}}, {"family": "Naess", "given": "Karin", "initials": "K", "orcid": "0000-0003-4310-7927", "researcher": {"href": "https://publications.scilifelab.se/researcher/1cf2472011ec46bf841260c7515fbbfc.json"}}, {"family": "Oscarson", "given": "Mikael", "initials": "M", "orcid": "0000-0002-8407-3885", "researcher": {"href": "https://publications.scilifelab.se/researcher/1a8412f43ec94b34ad350aa2d65bbd89.json"}}, {"family": "Shen", "given": "Yan", "initials": "Y"}, {"family": "Uebersch\u00e4r", "given": "Malin", "initials": "M", "orcid": "0000-0001-8377-5896", "researcher": {"href": "https://publications.scilifelab.se/researcher/21a63829fb8e4442bf6556cbdcf97142.json"}}, {"family": "Wredenberg", "given": "Anna", "initials": "A", "orcid": "0000-0002-2500-6121", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ea9ee7305424cdb8c238ef569e5be03.json"}}, {"family": "Sterky", "given": "Fredrik H", "initials": "FH", "orcid": "0000-0001-8881-0523", "researcher": {"href": "https://publications.scilifelab.se/researcher/c882670f832e4412869ab7667b115a81.json"}}, {"family": "Wedell", "given": "Anna", "initials": "A", "orcid": "0000-0002-2612-6301", "researcher": {"href": "https://publications.scilifelab.se/researcher/15f660ec95994b6a83d540e48c9b7610.json"}}, {"family": "Zetterstr\u00f6m", "given": "Rolf H", "initials": "RH", "orcid": "0000-0002-3016-0019", "researcher": {"href": "https://publications.scilifelab.se/researcher/5357002f410245c7a8d1e84dfed6a2a9.json"}}], "type": "journal article", "published": "2025-09-03", "journal": {"title": "Int J Neonatal Screen", "issn": "2409-515X", "volume": "11", "issue": "3", "issn-l": null}, "abstract": "Sweden has one neonatal screening laboratory and two centers conducting diagnostic workup for inborn errors of metabolism (IEM). Next-generation sequencing (NGS) has been gradually introduced as a confirmatory diagnostic test in the Swedish newborn screening program. Here, we describe the use of NGS in the diagnostic workup of IEM in screening-detected babies in Sweden between 2015 and 2023. During this period, 1,023,344 newborn children were screened, and 81 of 290 IEM cases were genetically confirmed using NGS. Planned improvements to the program are to perform genetic validation directly on the initial dried blood spot (DBS). As whole-genome sequencing (WGS) is superior in detecting causative genetic variants compared to Sanger sequencing, targeted NGS, and whole-exome sequencing (WES), it will likely become the method of choice more broadly in the future. A strong focus is to consolidate the nationally coordinated DBS newborn screening program, with all its individual components, including screening, targeted diagnostics, individualized treatment, and follow-up. This challenges the current regionalized organization of Swedish healthcare, which hinders close national collaboration between experts and sharing of data, as well as equal access to advanced treatments for identified patients, regardless of their place of birth.", "doi": "10.3390/ijns11030073", "pmid": "40981303", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC12452496"}, {"db": "pii", "key": "ijns11030073"}], "notes": [], "created": "2025-11-21T09:09:56.459Z", "modified": "2025-11-21T09:09:58.049Z"}, {"entity": "publication", "iuid": "9f05d86339b84c169856faace9e38db9", "links": {"self": {"href": "https://publications.scilifelab.se/publication/9f05d86339b84c169856faace9e38db9.json"}, "display": {"href": "https://publications.scilifelab.se/publication/9f05d86339b84c169856faace9e38db9"}}, "title": "The mitochondrial methylation potential gates mitoribosome assembly.", "authors": [{"family": "Glasgow", "given": "Ruth I C", "initials": "RIC"}, {"family": "Singh", "given": "Vivek", "initials": "V", "orcid": "0000-0003-4656-3362", "researcher": {"href": "https://publications.scilifelab.se/researcher/0576b8ffc93d42f6b47d9d0d7d01bbd0.json"}}, {"family": "Pe\u00f1a-P\u00e9rez", "given": "Luc\u00eda", "initials": "L", "orcid": "0000-0002-5044-7754", "researcher": {"href": "https://publications.scilifelab.se/researcher/111f8a8c4c6d4d2ea60e5fc76831b7fa.json"}}, {"family": "Wilhalm", "given": "Alissa", "initials": "A"}, {"family": "Moedas", "given": "Marco F", "initials": "MF"}, {"family": "Moore", "given": "David", "initials": "D"}, {"family": "Rosenberger", "given": "Florian A", "initials": "FA", "orcid": "0000-0003-4604-6170", "researcher": {"href": "https://publications.scilifelab.se/researcher/7e9cd9d0742d40e3b5dc1abfde64d5c4.json"}}, {"family": "Li", "given": "Xinping", "initials": "X"}, {"family": "Atanassov", "given": "Ilian", "initials": "I", "orcid": "0000-0001-8259-2545", "researcher": {"href": "https://publications.scilifelab.se/researcher/f8d22eab41e44364be8966abaf693de1.json"}}, {"family": "Saba", "given": "Mira", "initials": "M"}, {"family": "Cipullo", "given": "Miriam", "initials": "M"}, {"family": "Rorbach", "given": "Joanna", "initials": "J", "orcid": "0000-0002-2891-2840", "researcher": {"href": "https://publications.scilifelab.se/researcher/a069374613a7403b818ce7ca400f3627.json"}}, {"family": "Wedell", "given": "Anna", "initials": "A"}, {"family": "Freyer", "given": "Christoph", "initials": "C", "orcid": "0000-0003-0418-1673", "researcher": {"href": "https://publications.scilifelab.se/researcher/888298d25fb94acca7639063d3592373.json"}}, {"family": "Amunts", "given": "Alexey", "initials": "A", "orcid": "0000-0002-5302-1740", "researcher": {"href": "https://publications.scilifelab.se/researcher/e7d0bf36ad1a47f5b5b88f78d1e15395.json"}}, {"family": "Wredenberg", "given": "Anna", "initials": "A", "orcid": "0000-0002-2500-6121", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ea9ee7305424cdb8c238ef569e5be03.json"}}], "type": "journal article", "published": "2025-06-25", "journal": {"title": "Nat Commun", "issn": "2041-1723", "issn-l": "2041-1723", "volume": "16", "issue": "1", "pages": "5388"}, "abstract": "S-adenosylmethionine (SAM) is the principal methyl donor in cells and is essential for mitochondrial gene expression, influencing RNA modifications, translation, and ribosome biogenesis. Using direct long-read RNA sequencing in mouse tissues and embryonic fibroblasts, we show that processing of the mitochondrial ribosomal gene cluster fails in the absence of mitochondrial SAM, leading to an accumulation of unprocessed precursors. Proteomic analysis of ribosome fractions revealed these precursors associated with processing and assembly factors, indicating stalled biogenesis. Structural analysis by cryo-electron microscopy demonstrated that SAM-dependent methylation is required for peptidyl transferase centre formation during mitoribosome assembly. Our findings identify a critical role for SAM in coordinating mitoribosomal RNA processing and large subunit maturation, linking cellular methylation potential to mitochondrial translation capacity.", "doi": "10.1038/s41467-025-60977-x", "pmid": "40562754", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (Uppsala Genome Center)": "Service", "NGI Long read": "Service", "Bioinformatics Support for Computational Resources": "Service", "NGI Stockholm (Genomics Applications)": null}, "xrefs": [{"db": "pmc", "key": "PMC12198368"}, {"db": "pii", "key": "10.1038/s41467-025-60977-x"}], "notes": [], "created": "2025-08-19T13:45:26.954Z", "modified": "2025-12-08T12:41:21.324Z"}, {"entity": "publication", "iuid": "f9ddf419c2544b17840de75ae2763a2b", "links": {"self": {"href": "https://publications.scilifelab.se/publication/f9ddf419c2544b17840de75ae2763a2b.json"}, "display": {"href": "https://publications.scilifelab.se/publication/f9ddf419c2544b17840de75ae2763a2b"}}, "title": "Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.", "authors": [{"family": "Bruhn", "given": "Helene", "initials": "H", "orcid": "0009-0007-4449-5382", "researcher": {"href": "https://publications.scilifelab.se/researcher/789656ba85444c398bd2ebc03283f992.json"}}, {"family": "Naess", "given": "Karin", "initials": "K", "orcid": "0000-0003-4310-7927", "researcher": {"href": "https://publications.scilifelab.se/researcher/1cf2472011ec46bf841260c7515fbbfc.json"}}, {"family": "Ygberg", "given": "Sofia", "initials": "S", "orcid": "0000-0002-3854-2716", "researcher": {"href": "https://publications.scilifelab.se/researcher/ea34ee1594994492bc7dd8047503bbf0.json"}}, {"family": "Pe\u00f1a-P\u00e9rez", "given": "Luc\u00eda", "initials": "L", "orcid": "0000-0002-5044-7754", "researcher": {"href": "https://publications.scilifelab.se/researcher/111f8a8c4c6d4d2ea60e5fc76831b7fa.json"}}, {"family": "Lesko", "given": "Nicole", "initials": "N", "orcid": "0000-0001-8770-1878", "researcher": {"href": "https://publications.scilifelab.se/researcher/59b2ed29329e449bbe832174668d1d82.json"}}, {"family": "Wibom", "given": "Rolf", "initials": "R", "orcid": "0000-0001-6721-4642", "researcher": {"href": "https://publications.scilifelab.se/researcher/c7d5fc666ef84a8784d8b28ecf233146.json"}}, {"family": "Freyer", "given": "Christoph", "initials": "C", "orcid": "0000-0003-0418-1673", "researcher": {"href": "https://publications.scilifelab.se/researcher/888298d25fb94acca7639063d3592373.json"}}, {"family": "Stranneheim", "given": "Henrik", "initials": "H", "orcid": "0009-0009-1335-8021", "researcher": {"href": "https://publications.scilifelab.se/researcher/8dc7b1a3b5964ffca53a16c13a01d7ab.json"}}, {"family": "Wedell", "given": "Anna", "initials": "A", "orcid": "0000-0002-2612-6301", "researcher": {"href": "https://publications.scilifelab.se/researcher/15f660ec95994b6a83d540e48c9b7610.json"}}, {"family": "Wredenberg", "given": "Anna", "initials": "A", "orcid": "0000-0002-2500-6121", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ea9ee7305424cdb8c238ef569e5be03.json"}}], "type": "journal article", "published": "2024-03-25", "journal": {"title": "Hum. Mutat.", "issn": "1098-1004", "volume": "2024", "pages": "1611838", "issn-l": "1059-7794"}, "abstract": "Pyruvate dehydrogenase complex deficiency (PDCD) is a defect of aerobic carbohydrate metabolism that causes neurological disorders with varying degrees of severity. We report the clinical, biochemical, and molecular findings in patients with primary and secondary PDCD caused by novel atypical genetic variants. Whole-genome sequencing (WGS) identified the synonymous variants c.447A>G, p.(Lys149=) and c.570C>T, p.(Cys190=) in pyruvate dehydrogenase E1 subunit alpha 1 (PDHA1), the deep intronic variants c.1023+2267G>A and c.1023+2302A>G in pyruvate dehydrogenase complex component X (PDHX), and c.185+15054G>A in thiamine pyrophosphokinase (TPK1). Analysis by Sanger and RNA sequencing of cDNA from patient blood and/or cultured fibroblasts showed that the synonymous variants in PDHA1 lead to aberrant splicing and skipping of exons 5 and 5-6 in one of the patients and transcripts lacking exon 6 in the other. The deep intronic variants in PDHX and TPK1 lead to insertion of intronic sequence in the corresponding transcripts. The splice defects in PDHA1 were more pronounced in cultured fibroblasts than in blood. Our findings expand the spectrum of pathogenic variants causing PDCD and highlight the importance of atypical variants leading to aberrant splicing. The severity of the splice defects and resulting biochemical dysfunction varied between tissues, stressing the importance of performing biochemical and transcript analysis in affected tissues. The two males with hemizygous synonymous PDHA1 variants have a mild phenotype and higher PDH enzyme activity than expected, which is consistent with aberrant but leaky splicing with a proportion of the transcripts remaining correctly spliced.", "doi": "10.1155/2024/1611838", "pmid": "40225937", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11919216"}], "notes": [], "created": "2024-11-21T10:09:24.804Z", "modified": "2025-12-04T19:36:40.885Z"}, {"entity": "publication", "iuid": "ad68a32317274c03aa068006b44d02b9", "links": {"self": {"href": "https://publications.scilifelab.se/publication/ad68a32317274c03aa068006b44d02b9.json"}, "display": {"href": "https://publications.scilifelab.se/publication/ad68a32317274c03aa068006b44d02b9"}}, "title": "Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.", "authors": [{"family": "Ben-Shabat", "given": "Ilan", "initials": "I", "orcid": "0000-0003-2211-7528", "researcher": {"href": "https://publications.scilifelab.se/researcher/f19650307eff4a4691585bdef569c414.json"}}, {"family": "Kvarnung", "given": "Malin", "initials": "M", "orcid": "0000-0003-0193-0165", "researcher": {"href": "https://publications.scilifelab.se/researcher/77c2ad2b3e1442f5937aded8e129994a.json"}}, {"family": "Sperker", "given": "Wolfgang", "initials": "W", "orcid": "0000-0002-5351-9418", "researcher": {"href": "https://publications.scilifelab.se/researcher/f4aa72d100f6463e9b3327bab3fbd239.json"}}, {"family": "Bruhn", "given": "Helene", "initials": "H"}, {"family": "Wredenberg", "given": "Anna", "initials": "A", "orcid": "0000-0002-2500-6121", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ea9ee7305424cdb8c238ef569e5be03.json"}}, {"family": "Wibom", "given": "Rolf", "initials": "R", "orcid": "0000-0001-6721-4642", "researcher": {"href": "https://publications.scilifelab.se/researcher/c7d5fc666ef84a8784d8b28ecf233146.json"}}, {"family": "Nennesmo", "given": "Inger", "initials": "I", "orcid": "0009-0000-0871-1147", "researcher": {"href": "https://publications.scilifelab.se/researcher/7422a07a064648a5a1dfed8a9889503b.json"}}, {"family": "Engvall", "given": "Martin", "initials": "M"}, {"family": "Paucar", "given": "Martin", "initials": "M", "orcid": "0000-0003-3735-1480", "researcher": {"href": "https://publications.scilifelab.se/researcher/bbc592904eb5402ea48a624471d4b939.json"}}], "type": "journal article", "published": "2023-12-00", "journal": {"title": "Neurol Genet", "issn": "2376-7839", "volume": "9", "issue": "6", "pages": "e200100", "issn-l": "2376-7839"}, "abstract": "Biallelic variants in XPNPEP3 are associated with a rare mitochondrial syndrome characterized by nephronophthisis leading to kidney failure, essential tremor, hearing loss, seizures, and intellectual disability. Only 2 publications on this condition are available. We report a man with a complex ataxia syndrome, hearing loss, and kidney failure associated with a new biallelic variant in XPNPEP3.\n\nClinical evaluation, neuroimaging studies, a kidney biopsy, and whole genome sequencing (WGS) were applied. Since the phenotype was compatible with a mitochondrial disease, a muscle biopsy with morphological and mitochondrial biochemical investigations was performed.\n\nAxial ataxia, cerebellar atrophy, hearing loss, myopathy, ptosis, supranuclear palsy, and kidney failure because of nephronophthisis were the prominent features in this case. WGS revealed the novel biallelic variant c.766C>T (p.Gln256*) in XPNPEP3. A muscle biopsy revealed COX negative fibers, a few ragged red fibers, and ultrastructural mitochondrial changes. Enzyme activity in respiratory chain complex IV was reduced in muscle and fibroblasts.\n\nThis is the first report of a slowly progressive cerebellar ataxia associated with a novel biallelic variant in XPNPEP3. Abnormalities typical for mitochondrial disease and the slow progression of kidney disease are also striking. Our report expands the spectrum of XPNPEP3-related diseases.", "doi": "10.1212/NXG.0000000000200100", "pmid": "38035175", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10684053"}, {"db": "pii", "key": "NXG-2023-000165"}], "notes": [], "created": "2024-11-21T10:09:19.210Z", "modified": "2024-11-21T10:28:20.978Z"}, {"entity": "publication", "iuid": "94cdf9ed17a340d9a18e9348cf2fb025", "links": {"self": {"href": "https://publications.scilifelab.se/publication/94cdf9ed17a340d9a18e9348cf2fb025.json"}, "display": {"href": "https://publications.scilifelab.se/publication/94cdf9ed17a340d9a18e9348cf2fb025"}}, "title": "Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.", "authors": [{"family": "Correia", "given": "Sandrina P", "initials": "SP"}, {"family": "Moedas", "given": "Marco F", "initials": "MF"}, {"family": "Naess", "given": "Karin", "initials": "K"}, {"family": "Bruhn", "given": "Helene", "initials": "H"}, {"family": "Maffezzini", "given": "Camilla", "initials": "C"}, {"family": "Calvo-Garrido", "given": "Javier", "initials": "J"}, {"family": "Lesko", "given": "Nicole", "initials": "N"}, {"family": "Wibom", "given": "Rolf", "initials": "R"}, {"family": "Schober", "given": "Florian A", "initials": "FA", "orcid": "0000-0003-4604-6170", "researcher": {"href": "https://publications.scilifelab.se/researcher/7e9cd9d0742d40e3b5dc1abfde64d5c4.json"}}, {"family": "Jemt", "given": "Anders", "initials": "A"}, {"family": "Stranneheim", "given": "Henrik", "initials": "H"}, {"family": "Freyer", "given": "Christoph", "initials": "C", "orcid": "0000-0003-0418-1673", "researcher": {"href": "https://publications.scilifelab.se/researcher/888298d25fb94acca7639063d3592373.json"}}, {"family": "Wedell", "given": "Anna", "initials": "A"}, {"family": "Wredenberg", "given": "Anna", "initials": "A", "orcid": "0000-0002-2500-6121", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ea9ee7305424cdb8c238ef569e5be03.json"}}], "type": "journal article", "published": "2021-04-00", "journal": {"title": "Hum. Mutat.", "issn": "1098-1004", "volume": "42", "issue": "4", "pages": "378-384", "issn-l": "1059-7794"}, "abstract": "Mutations in structural subunits and assembly factors of complex I of the oxidative phosphorylation system constitute the most common cause of mitochondrial respiratory chain defects. Such mutations can present a wide range of clinical manifestations, varying from mild deficiencies to severe, lethal disorders. We describe a patient presenting intrauterine growth restriction and anemia, which displayed postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with fatal outcome. Whole genome sequencing revealed an intronic biallelic mutation in the NDUFB7 gene (c.113-10C>G) and splicing pattern alterations in NDUFB7 messenger RNA were confirmed by RNA Sequencing. The detected variant resulted in a significant reduction of the NDUFB7 protein and reduced complex I activity. Complementation studies with expression of wild-type NDUFB7 in patient fibroblasts normalized complex I function. Here we report a case with a primary complex I defect due to a homozygous mutation in an intron region of the NDUFB7 gene.", "doi": "10.1002/humu.24173", "pmid": "33502047", "labels": {"Clinical Genomics Stockholm": "Service", "National Genomics Infrastructure": "Service", "NGI Stockholm (Genomics Production)": "Service", "NGI Stockholm (Genomics Applications)": "Service", "Clinical Genomics": "Service"}, "xrefs": [], "notes": [], "created": "2021-02-04T14:33:05.943Z", "modified": "2021-12-06T13:45:27.325Z"}, {"entity": "publication", "iuid": "131283b276484c18b504aa4dc0115f19", "links": {"self": {"href": "https://publications.scilifelab.se/publication/131283b276484c18b504aa4dc0115f19.json"}, "display": {"href": "https://publications.scilifelab.se/publication/131283b276484c18b504aa4dc0115f19"}}, "title": "The one-carbon pool controls mitochondrial energy metabolism via complex I and iron-sulfur clusters.", "authors": [{"family": "Schober", "given": "Florian A", "initials": "FA", "orcid": "0000-0003-4604-6170", "researcher": {"href": "https://publications.scilifelab.se/researcher/7e9cd9d0742d40e3b5dc1abfde64d5c4.json"}}, {"family": "Moore", "given": "David", "initials": "D"}, {"family": "Atanassov", "given": "Ilian", "initials": "I", "orcid": "0000-0001-8259-2545", "researcher": {"href": "https://publications.scilifelab.se/researcher/f8d22eab41e44364be8966abaf693de1.json"}}, {"family": "Moedas", "given": "Marco F", "initials": "MF", "orcid": "0000-0001-5461-0320", "researcher": {"href": "https://publications.scilifelab.se/researcher/7a9cd9caaa014f4280544a243520e18c.json"}}, {"family": "Clemente", "given": "Paula", "initials": "P"}, {"family": "V\u00e9gv\u00e1ri", "given": "\u00c1kos", "initials": "\u00c1", "orcid": "0000-0002-1287-0906", "researcher": {"href": "https://publications.scilifelab.se/researcher/74be6e7c877e4f0da6c7ed3747f3ef9d.json"}}, {"family": "Fissi", "given": "Najla El", "initials": "NE", "orcid": "0000-0002-6631-4630", "researcher": {"href": "https://publications.scilifelab.se/researcher/dec87cba920947028856aadb5892f7a6.json"}}, {"family": "Filograna", "given": "Roberta", "initials": "R"}, {"family": "Bucher", "given": "Anna-Lena", "initials": "AL", "orcid": "0000-0002-9391-4850", "researcher": {"href": "https://publications.scilifelab.se/researcher/7ec4467fb36b44f0a0b1dfa056ec964d.json"}}, {"family": "Hinze", "given": "Yvonne", "initials": "Y", "orcid": "0000-0002-2966-9862", "researcher": {"href": "https://publications.scilifelab.se/researcher/a922a71f2fde43908945980353ed595a.json"}}, {"family": "The", "given": "Matthew", "initials": "M", "orcid": "0000-0002-5401-5553", "researcher": {"href": "https://publications.scilifelab.se/researcher/7e90cde879dc41eaade439bcf951a646.json"}}, {"family": "Hedman", "given": "Erik", "initials": "E", "orcid": "0000-0003-4017-9749", "researcher": {"href": "https://publications.scilifelab.se/researcher/ffc752d50a6649248c6809ea5aec803d.json"}}, {"family": "Chernogubova", "given": "Ekaterina", "initials": "E"}, {"family": "Begzati", "given": "Arjana", "initials": "A", "orcid": "0000-0002-8770-8022", "researcher": {"href": "https://publications.scilifelab.se/researcher/a15af0dbd68445538bd92c89f6d901df.json"}}, {"family": "Wibom", "given": "Rolf", "initials": "R", "orcid": "0000-0001-6721-4642", "researcher": {"href": "https://publications.scilifelab.se/researcher/c7d5fc666ef84a8784d8b28ecf233146.json"}}, {"family": "Jain", "given": "Mohit", "initials": "M"}, {"family": "Nilsson", "given": "Roland", "initials": "R", "orcid": "0000-0002-6020-7498", "researcher": {"href": "https://publications.scilifelab.se/researcher/0667c6d082934d818445fe0187dbb23e.json"}}, {"family": "K\u00e4ll", "given": "Lukas", "initials": "L", "orcid": "0000-0001-5689-9797", "researcher": {"href": "https://publications.scilifelab.se/researcher/9c9f4444f83e43d79c4772a430ca3969.json"}}, {"family": "Wedell", "given": "Anna", "initials": "A"}, {"family": "Freyer", "given": "Christoph", "initials": "C", "orcid": "0000-0003-0418-1673", "researcher": {"href": "https://publications.scilifelab.se/researcher/888298d25fb94acca7639063d3592373.json"}}, {"family": "Wredenberg", "given": "Anna", "initials": "A", "orcid": "0000-0002-2500-6121", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ea9ee7305424cdb8c238ef569e5be03.json"}}], "type": "journal article", "published": "2021-02-00", "journal": {"title": "Sci Adv", "issn": "2375-2548", "volume": "7", "issue": "8", "issn-l": "2375-2548"}, "abstract": "Induction of the one-carbon cycle is an early hallmark of mitochondrial dysfunction and cancer metabolism. Vital intermediary steps are localized to mitochondria, but it remains unclear how one-carbon availability connects to mitochondrial function. Here, we show that the one-carbon metabolite and methyl group donor S-adenosylmethionine (SAM) is pivotal for energy metabolism. A gradual decline in mitochondrial SAM (mitoSAM) causes hierarchical defects in fly and mouse, comprising loss of mitoSAM-dependent metabolites and impaired assembly of the oxidative phosphorylation system. Complex I stability and iron-sulfur cluster biosynthesis are directly controlled by mitoSAM levels, while other protein targets are predominantly methylated outside of the organelle before import. The mitoSAM pool follows its cytosolic production, establishing mitochondria as responsive receivers of one-carbon units. Thus, we demonstrate that cellular methylation potential is required for energy metabolism, with direct relevance for pathophysiology, aging, and cancer.", "doi": "10.1126/sciadv.abf0717", "pmid": "33608280", "labels": {"NGI Stockholm (Genomics Applications)": "Service", "NGI Stockholm (Genomics Production)": "Service", "National Genomics Infrastructure": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "7/8/eabf0717"}, {"db": "pmc", "key": "PMC7895438"}], "notes": [], "created": "2021-12-06T13:45:25.780Z", "modified": "2024-01-16T13:48:40.799Z"}]}