Joshi S, Andersen RF, Jespersen B, Rasmussen M, Madsen LB, Hansen A, Nagaraj S
, Kjeldsen M, Olsen RKJ, Gregersen N, et al. 2015.
Genetic Variants in NPHS1, NPHS2 and INF2 in Patients with Primary Focal Segmental Glomerulosclerosis in Denmark. Poster session presented at 10th International Podocyte Conference, Freiburg, Germany.
Dessein A-F, Fontaine M, Joncquel-Chevalier Curt M, Briand G, Sechter C, Mention-Mulliez K, Dobbelaere D, Douillard C, Lacour A, Redonnet-Vernhet I, et al. 2017.
Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.
Clinica chimica acta; international journal of clinical chemistry. 471:101-106.
https://doi.org/10.1016/j.cca.2017.05.026
García-Villoria J, De Azua B, Tort F
, Mosegaard S, Ugarteburu O, Texidó L, Morales-Romero B
, Olsen RKJ, Ribes A. 2018.
FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts.
Clinical Genetics. 94(6):592-593.
https://doi.org/10.1111/cge.13452
Zheng H, Shi J, Fang X, Li Y
, Vang S, Fan W, Wang J, Zhang Z, Wang W, Kristiansen K, et al. 2007.
FGF: A web tool for Fishing Gene Family in a whole genome database. Nucleic Acids Res. .
Schmid AM, Razim A, Wysmołek M, Kerekes D, Haunstetter M, Kohl P, Brazhnikov G, Geissler N, Thaler M, Krčmářová E, et al. 2023.
Extracellular vesicles of the probiotic bacteria E. coli O83 activate innate immunity and prevent allergy in mice.
Cell Communication and Signaling. 21(1):Article 297.
https://doi.org/10.1186/s12964-023-01329-4
Laurberg JR, Brems-Eskildsen AS, Nordentoft I, Fristrup N, Schepeler T, Ulhøi BP, Agerbaek M, Hartmann A, Bertz S, Wittlinger M, et al. 2012.
Expression of TIP60 (tat-interactive protein) and MRE11 (meiotic recombination 11 homolog) predict treatment-specific outcome of localised invasive bladder cancer.
B J U International (Online).
https://doi.org/10.1111/j.1464-410X.2012.11564.x
Grings M, Seminotti B, Karunanidhi A, Ghaloul-Gonzalez L, Mohsen A-W, Wipf P
, Palmfeldt J, Vockley J, Leipnitz G. 2019.
ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts.
Scientific Reports. 9(1):1-13.
https://doi.org/10.1038/s41598-019-49014-2
Olsen RKJ, Olpin SE
, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JCS, Cornelius N, et al. 2007.
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain. 130(Pt 8):2045-54.
https://doi.org/10.1093/brain/awm135
Zhou Y, Liu Y, Hussmann D, Brøgger P, Al-Saaidi RA, Tan S, Lin L, Petersen TS, Zhou GQ
, Bross P, et al. 2016.
Enhanced genome editing in mammalian cells with a modified dual-fluorescent surrogate system.
Cellular and Molecular Life Sciences. 73(13):2543-63.
https://doi.org/10.1007/s00018-015-2128-3
Bie AS, Fernandez-Guerra P, Birkler RID, Nisemblat S
, Pelnena D, Lu X, Deignan JL, Lee H, Dorrani N
, Corydon TJ, et al. 2016.
Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.
Frontiers in Molecular Biosciences. 3(OCT):65.
https://doi.org/10.3389/fmolb.2016.00065