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Page 1
Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.
Martin S, Smolders S, Van den Haute C, Heeman B, van Veen S, Crosiers D, Beletchi I, Verstraeten A, Gossye H, Gelders G, Pals P, Hamouda NN, Engelborghs S, Martin JJ, Eggermont J, De Deyn PP, Cras P, Baekelandt V, Vangheluwe P, Van Broeckhoven C; BELNEU consortium. Martin S, et al. Among authors: heeman b. Acta Neuropathol. 2020 Jun;139(6):1001-1024. doi: 10.1007/s00401-020-02145-7. Epub 2020 Mar 14. Acta Neuropathol. 2020. PMID: 32172343 Free PMC article.
Loss-of-function rodent models for parkin and PINK1.
Oliveras-Salvá M, Van Rompuy AS, Heeman B, Van den Haute C, Baekelandt V. Oliveras-Salvá M, et al. Among authors: heeman b. J Parkinsons Dis. 2011;1(3):229-51. doi: 10.3233/JPD-2011-11041. J Parkinsons Dis. 2011. PMID: 23939304 Review.
Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations.
Bettens K, Vermeulen S, Van Cauwenberghe C, Heeman B, Asselbergh B, Robberecht C, Engelborghs S, Vandenbulcke M, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Sleegers K. Bettens K, et al. Among authors: heeman b. Mol Neurodegener. 2015 Jul 16;10:30. doi: 10.1186/s13024-015-0024-9. Mol Neurodegener. 2015. PMID: 26179372 Free PMC article.
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.
Gijselinck I, Van Mossevelde S, van der Zee J, Sieben A, Engelborghs S, De Bleecker J, Ivanoiu A, Deryck O, Edbauer D, Zhang M, Heeman B, Bäumer V, Van den Broeck M, Mattheijssens M, Peeters K, Rogaeva E, De Jonghe P, Cras P, Martin JJ, de Deyn PP, Cruts M, Van Broeckhoven C. Gijselinck I, et al. Among authors: heeman b. Mol Psychiatry. 2016 Aug;21(8):1112-24. doi: 10.1038/mp.2015.159. Epub 2015 Oct 20. Mol Psychiatry. 2016. PMID: 26481318 Free PMC article.
Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.
Gijselinck I, Van Mossevelde S, van der Zee J, Sieben A, Philtjens S, Heeman B, Engelborghs S, Vandenbulcke M, De Baets G, Bäumer V, Cuijt I, Van den Broeck M, Peeters K, Mattheijssens M, Rousseau F, Vandenberghe R, De Jonghe P, Cras P, De Deyn PP, Martin JJ, Cruts M, Van Broeckhoven C; BELNEU Consortium. Gijselinck I, et al. Among authors: heeman b. Neurology. 2015 Dec 15;85(24):2116-25. doi: 10.1212/WNL.0000000000002220. Epub 2015 Nov 18. Neurology. 2015. PMID: 26581300 Free PMC article.
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
van der Zee J, Gijselinck I, Van Mossevelde S, Perrone F, Dillen L, Heeman B, Bäumer V, Engelborghs S, De Bleecker J, Baets J, Gelpi E, Rojas-García R, Clarimón J, Lleó A, Diehl-Schmid J, Alexopoulos P, Perneczky R, Synofzik M, Just J, Schöls L, Graff C, Thonberg H, Borroni B, Padovani A, Jordanova A, Sarafov S, Tournev I, de Mendonça A, Miltenberger-Miltényi G, Simões do Couto F, Ramirez A, Jessen F, Heneka MT, Gómez-Tortosa E, Danek A, Cras P, Vandenberghe R, De Jonghe P, De Deyn PP, Sleegers K, Cruts M, Van Broeckhoven C, Goeman J, Nuytten D, Smets K, Robberecht W, Damme PV, Bleecker J, Santens P, Dermaut B, Versijpt J, Michotte A, Ivanoiu A, Deryck O, Bergmans B, Delbeck J, Bruyland M, Willems C, Salmon E, Pastor P, Ortega-Cubero S, Benussi L, Ghidoni R, Binetti G, Hernández I, Boada M, Ruiz A, Sorbi S, Nacmias B, Bagnoli S, Sorbi S, Sanchez-Valle R, Llado A, Santana I, Rosário Almeida M, Frisoni GB, Maetzler W, Matej R, Fraidakis MJ, Kovacs GG, Fabrizi GM, Testi S. van der Zee J, et al. Among authors: heeman b. Hum Mutat. 2017 Mar;38(3):297-309. doi: 10.1002/humu.23161. Epub 2017 Jan 19. Hum Mutat. 2017. PMID: 28008748 Free PMC article.
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
De Roeck A, Van den Bossche T, van der Zee J, Verheijen J, De Coster W, Van Dongen J, Dillen L, Baradaran-Heravi Y, Heeman B, Sanchez-Valle R, Lladó A, Nacmias B, Sorbi S, Gelpi E, Grau-Rivera O, Gómez-Tortosa E, Pastor P, Ortega-Cubero S, Pastor MA, Graff C, Thonberg H, Benussi L, Ghidoni R, Binetti G, de Mendonça A, Martins M, Borroni B, Padovani A, Almeida MR, Santana I, Diehl-Schmid J, Alexopoulos P, Clarimon J, Lleó A, Fortea J, Tsolaki M, Koutroumani M, Matěj R, Rohan Z, De Deyn P, Engelborghs S, Cras P, Van Broeckhoven C, Sleegers K; European Early-Onset Dementia (EU EOD) consortium. De Roeck A, et al. Among authors: heeman b. Acta Neuropathol. 2017 Sep;134(3):475-487. doi: 10.1007/s00401-017-1714-x. Epub 2017 Apr 27. Acta Neuropathol. 2017. PMID: 28447221 Free PMC article.
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort.
Verheijen J, van der Zee J, Gijselinck I, Van den Bossche T, Dillen L, Heeman B, Gómez-Tortosa E, Lladó A, Sanchez-Valle R, Graff C, Pastor P, Pastor MA, Benussi L, Ghidoni R, Binetti G, Clarimon J, de Mendonça A, Gelpi E, Tsolaki M, Diehl-Schmid J, Nacmias B, Almeida MR, Borroni B, Matej R, Ruiz A, Engelborghs S, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Sleegers K; BELNEU Consortium; EU EOD Consortium. Verheijen J, et al. Among authors: heeman b. Neurobiol Aging. 2018 Feb;62:245.e1-245.e7. doi: 10.1016/j.neurobiolaging.2017.10.012. Epub 2017 Oct 25. Neurobiol Aging. 2018. PMID: 29146049 Free article.
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