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Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.
Havlicek S, Kohl Z, Mishra HK, Prots I, Eberhardt E, Denguir N, Wend H, Plötz S, Boyer L, Marchetto MC, Aigner S, Sticht H, Groemer TW, Hehr U, Lampert A, Schlötzer-Schrehardt U, Winkler J, Gage FH, Winner B. Havlicek S, et al. Among authors: prots i. Hum Mol Genet. 2014 May 15;23(10):2527-41. doi: 10.1093/hmg/ddt644. Epub 2013 Dec 30. Hum Mol Genet. 2014. PMID: 24381312 Free PMC article.
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. Among authors: prots i. 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: prots i. 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: prots i. Ann Neurol. 2016 May;79(5):826-840. doi: 10.1002/ana.24633. Ann Neurol. 2016. PMID: 26971897 Free PMC article.
35 results