{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T18:48:12Z","timestamp":1782067692477,"version":"3.54.5"},"reference-count":35,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T00:00:00Z","timestamp":1782000000000},"content-version":"vor","delay-in-days":171,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100015223","name":"Danish Diabetes and Endocrine Academy","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015223","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Foundation","doi-asserted-by":"publisher","award":["NNF22SA0079901"],"award-info":[{"award-number":["NNF22SA0079901"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Union\u2019s Horizon Europe research and innovation program","award":["101073251"],"award-info":[{"award-number":["101073251"]}]},{"name":"Prinses Beatrix Spierfonds and A Foundation Building Strength for Nemaline Myopathies","award":["W.OR23\u201306"],"award-info":[{"award-number":["W.OR23\u201306"]}]},{"DOI":"10.13039\/501100001826","name":"The Netherlands Organisation for Health Research and Development","doi-asserted-by":"crossref","award":["09150161910168"],"award-info":[{"award-number":["09150161910168"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Amsterdam Cardiovascular Sciences Institute"},{"name":"the Van Coevorden Adriani Stichting\/Vrije Universiteit"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,6,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Nemaline Myopathy type 6 (NEM6) is a congenital myopathy caused by variants in Kelch-repeat-and-BTB-(POZ)-Domain-Containing-13 (KBTBD13). The majority of the NEM6 patients harbor the Dutch founding variant KBTBD13R408C (c.1222C\u2009&amp;gt;\u2009T, p.Arg408Cys) and experience skeletal muscle weakness and sarcomere-based hypercontractility. Histological characterization of NEM6 patient biopsies by NADH staining shows the presence of cores, suggesting mitochondrial dysfunction. We aimed to elucidate the role of mitochondrial dysfunction in NEM6 pathology and tested the ability of the NAD+ precursor nicotinamide riboside (NR) to improve mitochondrial performance. We performed a natural history study in homozygous Kbtbd13R408C-knockin mice (NEM6 mouse model) to investigate the onset and progression of mitochondrial dysfunction in NEM6. We performed high-resolution respirometry, metabolic treadmill experiments and histoenzymatic NADH and SDH stainings on cryosections. Additionally, we used multi-omics analyses to investigate impacted pathways and metabolite dysregulation and performed NR supplementation for eight weeks to prevent the onset of mitochondrial dysfunction in NEM6 mice. Throughout disease progression, NEM6 mice display decreased mitochondrial respiration, impaired metabolic performance and the presence of cores with histoenzymatic reactions. Multi-omics studies revealed that the TCA cycle is heavily impacted and that NAD+ levels are decreased throughout disease progression. We aimed to restore NAD+ levels by supplementation of NR. Remarkably, NR treatment in 1-months-old NEM6 mice, prevented the onset of mitochondrial dysfunction. In conclusion, these results provide insight in the onset and progression of mitochondrial dysfunction in NEM6 and offer proof-of-concept for NR as a therapeutic strategy.<\/jats:p>","DOI":"10.1093\/hmg\/ddag023","type":"journal-article","created":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:13:01Z","timestamp":1781611981000},"source":"Crossref","is-referenced-by-count":0,"title":["Nicotinamide riboside prevents mitochondrial dysfunction in nemaline myopathy type 6"],"prefix":"10.1093","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-3331-2985","authenticated-orcid":false,"given":"Rianne J","family":"Baelde","sequence":"first","affiliation":[{"name":"Department of Physiology, Amsterdam UMC , location VUmc, De Boelelaan 1108, Amsterdam, HZ 1081 ,","place":["The Netherlands"]},{"name":"Amsterdam Cardiovascular Sciences institute , Amsterdam UMC, location VUmc, De Boelelaan 1108, Amsterdam, HZ 1081,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leander A","family":"Vonk","sequence":"additional","affiliation":[{"name":"Department of Physiology, Amsterdam UMC , location VUmc, De Boelelaan 1108, Amsterdam, HZ 1081 ,","place":["The Netherlands"]},{"name":"Amsterdam Cardiovascular Sciences institute , Amsterdam UMC, location VUmc, De Boelelaan 1108, Amsterdam, HZ 1081,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edgar E","family":"Nollet","sequence":"additional","affiliation":[{"name":"Department of Physiology, Amsterdam UMC , location VUmc, De Boelelaan 1108, Amsterdam, HZ 1081 ,","place":["The Netherlands"]},{"name":"Amsterdam Cardiovascular Sciences institute , Amsterdam UMC, location VUmc, De Boelelaan 1108, Amsterdam, HZ 1081,","place":["The Netherlands"]},{"name":"Department of Biomedical Sciences, University of Copenhagen , Blegdamsvej 3B, 2200, Copenhagen ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo A","family":"Galli","sequence":"additional","affiliation":[{"name":"Department of Physiology, Amsterdam UMC , location VUmc, De Boelelaan 1108, Amsterdam, HZ 1081 ,","place":["The Netherlands"]},{"name":"Amsterdam Cardiovascular Sciences institute , Amsterdam UMC, location VUmc, De Boelelaan 1108, Amsterdam, HZ 1081,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexcia Fortes","family":"Monteiro","sequence":"additional","affiliation":[{"name":"Department of Physiology, Amsterdam UMC , location VUmc, De Boelelaan 1108, Amsterdam, HZ 1081 ,","place":["The Netherlands"]},{"name":"Amsterdam Cardiovascular Sciences institute , Amsterdam UMC, location VUmc, De Boelelaan 1108, Amsterdam, HZ 1081,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sultan","family":"Bastu","sequence":"additional","affiliation":[{"name":"University Paris Est Cr\u00e9teil , Inserm, U955, IMRB, Cr\u00e9teil F-94010 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bornale","family":"Das","sequence":"additional","affiliation":[{"name":"University Paris Est Cr\u00e9teil , Inserm, U955, IMRB, Cr\u00e9teil F-94010 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"van Weeghel","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Amsterdam UMC, location University of Amsterdam , Meibergdreef 9, Amsterdam AZ, 1105 ,","place":["The Netherlands"]},{"name":"Core Facility Metabolomics, Amsterdam UMC, location AMC, Meibergdreef 9, 1105 AZ , Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bauke V","family":"Schomakers","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Amsterdam UMC, location University of Amsterdam , Meibergdreef 9, Amsterdam AZ, 1105 ,","place":["The Netherlands"]},{"name":"Core Facility Metabolomics, Amsterdam UMC, location AMC, Meibergdreef 9, 1105 AZ , Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kasper T","family":"Vinten","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Amsterdam UMC, location University of Amsterdam , Meibergdreef 9, Amsterdam AZ, 1105 ,","place":["The Netherlands"]},{"name":"Amsterdam Gastroenterology Endocrinology and Metabolism institute , location AMC, Meibergdreef 9, 1105 AZ, Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marloes","family":"van den Berg","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Medicine, University of Arizona , 1656 E Mabel street, 85724, Tucson ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolanda","family":"van der Velden","sequence":"additional","affiliation":[{"name":"Department of Physiology, Amsterdam UMC , location VUmc, De Boelelaan 1108, Amsterdam, HZ 1081 ,","place":["The Netherlands"]},{"name":"Amsterdam Cardiovascular Sciences institute , Amsterdam UMC, location VUmc, De Boelelaan 1108, Amsterdam, HZ 1081,","place":["The Netherlands"]},{"name":"Department of Experimental Cardiology, Amsterdam UMC, location University of Amsterdam , Meibergdreef 9, Amsterdam AZ, 1105 ,","place":["The Netherlands"]},{"name":"Netherlands Heart Institute , Moreelsepark 1, 3511 EP, Utrecht ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riekelt H","family":"Houtkooper","sequence":"additional","affiliation":[{"name":"Amsterdam Cardiovascular Sciences institute , Amsterdam UMC, location VUmc, De Boelelaan 1108, Amsterdam, HZ 1081,","place":["The Netherlands"]},{"name":"Laboratory Genetic Metabolic Diseases, Amsterdam UMC, location University of Amsterdam , Meibergdreef 9, Amsterdam AZ, 1105 ,","place":["The Netherlands"]},{"name":"Amsterdam Gastroenterology Endocrinology and Metabolism institute , location AMC, Meibergdreef 9, 1105 AZ, Amsterdam ,","place":["The Netherlands"]},{"name":"Emma Center for Personalized Medicine, Amsterdam UMC , location AMC, Meibergdreef 9, 1105 AZ, Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicol C","family":"Voermans","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center , Erasmusplein 1, 6525 HT, Nijmegen ,","place":["The 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