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Page 1
Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia.
Pérez-Brangulí F, Mishra HK, Prots I, Havlicek S, Kohl Z, Saul D, Rummel C, Dorca-Arevalo J, Regensburger M, Graef D, Sock E, Blasi J, Groemer TW, Schlötzer-Schrehardt U, Winkler J, Winner B. Pérez-Brangulí F, et al. Hum Mol Genet. 2014 Sep 15;23(18):4859-74. doi: 10.1093/hmg/ddu200. Epub 2014 May 2. Hum Mol Genet. 2014. PMID: 24794856 Free PMC article.
The Ca2+ sensor protein swiprosin-1/EFhd2 is present in neurites and involved in kinesin-mediated transport in neurons.
Purohit P, Perez-Branguli F, Prots I, Borger E, Gunn-Moore F, Welzel O, Loy K, Wenzel EM, Grömer TW, Brachs S, Holzer M, Buslei R, Fritsch K, Regensburger M, Böhm KJ, Winner B, Mielenz D. Purohit P, et al. Among authors: perez branguli f. PLoS One. 2014 Aug 18;9(8):e103976. doi: 10.1371/journal.pone.0103976. eCollection 2014. PLoS One. 2014. PMID: 25133820 Free PMC article.
GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model.
Mishra HK, Prots I, Havlicek S, Kohl Z, Perez-Branguli F, Boerstler T, Anneser L, Minakaki G, Wend H, Hampl M, Leone M, Brückner M, Klucken J, Reis A, Boyer L, Schuierer G, Behrens J, Lampert A, Engel FB, Gage FH, Winkler J, Winner B. Mishra HK, et al. Among authors: perez branguli f. Ann Neurol. 2016 May;79(5):826-840. doi: 10.1002/ana.24633. Ann Neurol. 2016. PMID: 26971897 Free PMC article.
Human SPG11 cerebral organoids reveal cortical neurogenesis impairment.
Pérez-Brangulí F, Buchsbaum IY, Pozner T, Regensburger M, Fan W, Schray A, Börstler T, Mishra H, Gräf D, Kohl Z, Winkler J, Berninger B, Cappello S, Winner B. Pérez-Brangulí F, et al. Hum Mol Genet. 2019 Mar 15;28(6):961-971. doi: 10.1093/hmg/ddy397. Hum Mol Genet. 2019. PMID: 30476097 Free PMC article.
EFhd2/Swiprosin-1 is a common genetic determinator for sensation-seeking/low anxiety and alcohol addiction.
Mielenz D, Reichel M, Jia T, Quinlan EB, Stöckl T, Mettang M, Zilske D, Kirmizi-Alsan E, Schönberger P, Praetner M, Huber SE, Amato D, Schwarz M, Purohit P, Brachs S, Spranger J, Hess A, Büttner C, Ekici AB, Perez-Branguli F, Winner B, Rauschenberger V, Banaschewski T, Bokde ALW, Büchel C, Conrod PJ, Desrivières S, Flor H, Frouin V, Gallinat J, Garavan H, Gowland P, Heinz A, Martinot JL, Lemaitre H, Nees F, Paus T, Smolka MN; IMAGEN Consortium; Schambony A, Bäuerle T, Eulenburg V, Alzheimer C, Lourdusamy A, Schumann G, Müller CP. Mielenz D, et al. Among authors: perez branguli f. Mol Psychiatry. 2018 May;23(5):1303-1319. doi: 10.1038/mp.2017.63. Epub 2017 Apr 11. Mol Psychiatry. 2018. PMID: 28397836 Free PMC article.
Epistatic and Independent Effects on Schizophrenia-Related Phenotypes Following Co-disruption of the Risk Factors Neuregulin-1 × DISC1.
O'Tuathaigh CM, Fumagalli F, Desbonnet L, Perez-Branguli F, Moloney G, Loftus S, O'Leary C, Petit E, Cox R, Tighe O, Clarke G, Lai D, Harvey RP, Cryan JF, Mitchell KJ, Dinan TG, Riva MA, Waddington JL. O'Tuathaigh CM, et al. Among authors: perez branguli f. Schizophr Bull. 2017 Jan;43(1):214-225. doi: 10.1093/schbul/sbw120. Epub 2016 Sep 9. Schizophr Bull. 2017. PMID: 27613806 Free PMC article.
17 results