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American Journal of Human Genetics|July 5, 2016
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I DeficiencyLaura Sánchez-Caballero, Benedetta Ruzzenente, Lucas Bianchi, et al.Nature Communications|April 4, 2020
A salvage pathway maintains highly functional respiratory complex IKarolina Szczepanowska, Katharina Senft, Juliana Heidler, et al.Biochimica Et Biophysica Acta. Bioenergetics|March 16, 2021
CEDAR, an online resource for the reporting and exploration of complexome profiling dataJoeri van Strien, Alexander Haupt, Uwe Schulte, et al.Brain : a Journal of Neurology|February 1, 2022
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequencesDulika Sumathipala, Petter Strømme, Zohreh Fattahi, et al.Journal of Inherited Metabolic Disease|May 18, 2020
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxaMiski Mohamed, Thatjana Gardeitchik, Shanti Balasubramaniam, et al.The EMBO Journal|July 21, 2022
AIFM1 is a component of the mitochondrial disulfide relay that drives complex I assembly through efficient import of NDUFS5Silja Lucia Salscheider, Sarah Gerlich, Alfredo Cabrera-Orefice, et al.Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Recessive variants in the intergenic <i>NOS1AP-C1orf226</i> locus cause monogenic kidney disease responsive to anti-proteinuric treatmentFlorian Buerger, Daanya Salmanullah, Lorrin Liang, et al.Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variantsRobin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 18, 2021
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiencySaskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.Molecular Genetics and Metabolism|February 20, 2026
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial diseaseOliver Heath, Francisco Del Caño-Ochoa, Safa Baris, et al.Pageof 5