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Page 1
Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.
de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PMJ, Hoencamp E, Bergink V; GROUP Study Consortium; Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA. de Vrij FM, et al. Among authors: distel b. Mol Psychiatry. 2019 May;24(5):757-771. doi: 10.1038/s41380-017-0004-2. Epub 2018 Jan 4. Mol Psychiatry. 2019. PMID: 29302076 Free PMC article.
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.
Avagliano Trezza R, Sonzogni M, Bossuyt SNV, Zampeta FI, Punt AM, van den Berg M, Rotaru DC, Koene LMC, Munshi ST, Stedehouder J, Kros JM, Williams M, Heussler H, de Vrij FMS, Mientjes EJ, van Woerden GM, Kushner SA, Distel B, Elgersma Y. Avagliano Trezza R, et al. Among authors: distel b. Nat Neurosci. 2019 Aug;22(8):1235-1247. doi: 10.1038/s41593-019-0425-0. Epub 2019 Jun 24. Nat Neurosci. 2019. PMID: 31235931
Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function.
Avagliano Trezza R, Punt AM, Mientjes E, van den Berg M, Zampeta FI, de Graaf IJ, van der Weegen Y, Demmers JAA, Elgersma Y, Distel B. Avagliano Trezza R, et al. Among authors: distel b. Sci Rep. 2021 Feb 4;11(1):3007. doi: 10.1038/s41598-021-82319-9. Sci Rep. 2021. PMID: 33542309 Free PMC article.
Transactions at the peroxisomal membrane.
Distel B, Braakman I, Elgersma Y, Tabak HF. Distel B, et al. Subcell Biochem. 2000;34:303-22. doi: 10.1007/0-306-46824-7_8. Subcell Biochem. 2000. PMID: 10808337 Review. No abstract available.
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
Geerts-Haages A, Bossuyt SNV, den Besten I, Bruggenwirth H, van der Burgt I, Yntema HG, Punt AM, Brooks A, Elgersma Y, Distel B, Valstar M. Geerts-Haages A, et al. Among authors: distel b. Mol Genet Genomic Med. 2020 Nov;8(11):e1481. doi: 10.1002/mgg3.1481. Epub 2020 Sep 5. Mol Genet Genomic Med. 2020. PMID: 32889787 Free PMC article.
84 results