All exons are not created equal

Autor: Andresen, B. S., Christensen, L. L.

Publikováno v: Andresen, B S & Christensen, L L 2019, ' All exons are not created equal ', European Journal of Human Genetics, vol. 26, pp. 305 . < https://doi.org/10.1038/s41431-018-0247-7 >

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3062::dd9c4f384bf409cb065c96ff15ab24fd
https://portal.findresearcher.sdu.dk/da/publications/d02cd52a-40c9-4385-a726-4e85c6cced9d

Using neural networks to predict effects of mutations on protein binding

Autor: Gronning, A. G. B., Doktor, T. K., Larsen, S. J., Bruun, G. H., Baumbach, J., Andresen, B. S.

Publikováno v: Gronning, A G B, Doktor, T K, Larsen, S J, Bruun, G H, Baumbach, J & Andresen, B S 2018, ' Using neural networks to predict effects of mutations on protein binding ', European Journal of Human Genetics, vol. 26, pp. 719 . < https://doi.org/10.1038/s41431-018-0247-7 >

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3062::352102329e9c12768b76ade5371681de
https://portal.findresearcher.sdu.dk/da/publications/5356c06f-f236-480f-803c-675d0786b318

Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells

Autor: Jensen, T G, Bross, P, Andresen, B S, Lund, T B, Kristensen, T J, Jensen, U B, Jensen, Uffe Birk, Winther, V, Kølvraa, S, Gregersen, N, Bolund, L

Publikováno v: Jensen, T G, Bross, P, Andresen, B S, Lund, T B, Kristensen, T J, Jensen, U B, Jensen, U B, Winther, V, Kølvraa, S, Gregersen, N & Bolund, L 1995, ' Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells ', Human Mutation, vol. 6, no. 3, pp. 226-31 . https://doi.org/10.1002/humu.1380060305

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially lethal inherited defect in the β-oxidation of fatty acids. By comparing the behaviour of five missense MCAD mutant proteins expressed in COS cells and in Escherichia coli, we can

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c22fefc7a39d868d5df4268102b86b1d
https://doi.org/10.1002/humu.1380060305

The Molecular Basis of Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenation Deficiency

Autor: Olsen, R. K. J., Andresen, B. S., Gregersen, N., Miedzybrodska, Z., morteza pourfarzam, Merinero, B., Olpin, S., Morris, A. A. M.

Publikováno v: Olsen, R K J, Andresen, B S, Gregersen, N, Miedzybrodska, Z, Pourfarzam, M, Merinero, B, Olpin, S & Morris, A A M 2005, The Molecular Basis of Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenation Deficiency . in Ikke angivet . 28, suppl 1 edn, Journal of Inherited Metabolic Disease, pp. 116, Paris, France, 06/09/2005 .
ResearcherID

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6829108632eb2e840c001212fc217735
https://pure.au.dk/portal/da/publications/the-molecular-basis-of-riboflavinresponsive-multiple-acylcoa-dehydrogenation-deficiency(d7754740-bfee-11da-bee9-02004c4f4f50).html

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive

Autor: Reilly, L. O., Peter Bross, Corydon, T. J., Olpin, S. E., Hansen, J., Kenney, J. M., Mccandless, S. E., Frazier, D. M., Winter, V., Gregersen, N., Engel, P. C., Andresen, B. S.

Publikováno v: O'Reilly, L, Bross, P, Corydon, T J, Olpin, S E, Hansen, J, Kenney, J M, McCandless, S E, Frazier, D M, Winter, V, Gregersen, N, Engel, P C & Andresen, B S 2004, ' The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive ', F E B S Journal, vol. 271, no. 20, pp. 4053-4063 .
Aarhus University

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5245e689384a850765f921359605e7cf
https://pure.au.dk/portal/da/publications/the-y42h-mutation-in-mediumchain-acylcoa-dehydrogenase-which-is-prevalent-in-babies-identified-by-msmsbased-newborn-screening-is-temperature-sensitive(4588f9c0-bda1-11da-bee9-02004c4f4f50).html