SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

Wong MMK, Kampen RA, Braden RO, Alagöz G, Hildebrand MS, Dingemans AJM, Corbally J, den Hoed J, Mendoza E, Claassen WJJ, Barnett C, Barnett M, Brusco A, Carli D, de Vries BBA, Elmslie F, Ferrero GB, Jansen NA, van de Laar IMBH, Moroni A, Mowat D, Murray L, Novara F, Peron A, Scheffer IE, Sirchia F, Turner SJ, Vignoli A, Vino A, Weber S, Chung WK, Gerard M, López-González V, Palmer E, Morgan AT, van Bon BW, Fisher SE

Open source

DOI
10.1038/s41467-025-64074-x
Published
2025 Oct 10
Container
Nature communications
Publisher
Freie Universität Berlin
Open access
yes

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BibTeX

@article{allodium:10.1038/s41467-025-64074-x,
  title = {SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.},
  author = {Wong MMK and Kampen RA and Braden RO and Alagöz G and Hildebrand MS and Dingemans AJM and Corbally J and den Hoed J and Mendoza E and Claassen WJJ and Barnett C and Barnett M and Brusco A and Carli D and de Vries BBA and Elmslie F and Ferrero GB and Jansen NA and van de Laar IMBH and Moroni A and Mowat D and Murray L and Novara F and Peron A and Scheffer IE and Sirchia F and Turner SJ and Vignoli A and Vino A and Weber S and Chung WK and Gerard M and López-González V and Palmer E and Morgan AT and van Bon BW and Fisher SE},
  year = {2025},
  journal = {Nature communications},
  doi = {10.1038/s41467-025-64074-x},
  url = {https://doi.org/10.1038/s41467-025-64074-x}
}

RIS

TY  - JOUR
TI  - SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.
AU  - Wong MMK
AU  - Kampen RA
AU  - Braden RO
AU  - Alagöz G
AU  - Hildebrand MS
AU  - Dingemans AJM
AU  - Corbally J
AU  - den Hoed J
AU  - Mendoza E
AU  - Claassen WJJ
AU  - Barnett C
AU  - Barnett M
AU  - Brusco A
AU  - Carli D
AU  - de Vries BBA
AU  - Elmslie F
AU  - Ferrero GB
AU  - Jansen NA
AU  - van de Laar IMBH
AU  - Moroni A
AU  - Mowat D
AU  - Murray L
AU  - Novara F
AU  - Peron A
AU  - Scheffer IE
AU  - Sirchia F
AU  - Turner SJ
AU  - Vignoli A
AU  - Vino A
AU  - Weber S
AU  - Chung WK
AU  - Gerard M
AU  - López-González V
AU  - Palmer E
AU  - Morgan AT
AU  - van Bon BW
AU  - Fisher SE
PY  - 2025
JO  - Nature communications
DO  - 10.1038/s41467-025-64074-x
UR  - https://doi.org/10.1038/s41467-025-64074-x
ER  -

APA

MMK, W., RA, K., RO, B., G, A., MS, H., AJM, D., J, C., J, D. H., E, M., WJJ, C., C, B., M, B., A, B., D, C., BBA, D. V., F, E., GB, F., NA, J., IMBH, V. D. L., A, M., D, M., L, M., F, N., A, P., IE, S., F, S., SJ, T., A, V., A, V., S, W., WK, C., M, G., V, L., E, P., AT, M., BW, V. B., & SE, F. (2025). SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.. Nature communications. https://doi.org/10.1038/s41467-025-64074-x

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