Publications

Impact of disease genes and pathways on neurodevelopment

Reiprich S, Cantone M, Weider M, Baroti T, Wittstatt J, Schmitt C, Küspert M, Vera J, Wegner M (2017) Transcription factor Sox10 regulates oligodendroglial Sox9 levels via microRNAs. Glia 65(7):1089-1102.

Hoffmann A, Ettle B, Bruno A, Kulinich A, Hoffmann AC, von Wittgenstein J, Winkler J, Xiang W, Schlachetzki JC (2016) Alpha-synuclein activates BV2 microglia dependent on its aggregation state. Biochem Biophys Res Commun 28;479(4):881-886.

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 (2014) Dysfunction of spatacsin leads to axonal pathology in SPG11 linked hereditary spastic paraplegia. Hum Mol Genet 23(18):4859-74.

Havlicek S, Kohl Z, Mishra HK, Prots I, Eberhardt E, Denguir N, Wend H, Plötz S, Boyer L, Marchetto MCN, Aigner S, Sticht H, Groemer TW, Hehr U, Lampert A, Schlötzer- Schrehardt U, Winkler J, Gage FH, Winner B (2014) Gene dosage dependent rescue of HSP neurite defects in SPG4 patients’ neurons. Hum Mol Genet 23(10):2527-41.

Ettle B, Reiprich S, Deusser J, Schlachetzki JC, Xiang W, Prots I, Masliah E, Winner B, Wegner M, Winkler J (2014) Intracellular alpha-synuclein affects early maturation of primary oligodendrocyte progenitor cells. Mol Cell Neurosci pii: S1044-7431(14)00073-6.

Gulbins E, Palmada M, Reichel M, Lüth A, Böhmer C, Amato D, Müller CP, Tischbirek CH, Groemer TW, Tabatabai G, Becker KA, Tripal P, Staedtler S, Ackermann TF, van Brederode JF, Alzheimer C, Weller M, Lang UE, Kleuser B, Grassmé H, Kornhuber J (2013) Acid sphingomyelinase/ceramide system mediates effects of antidepressant drugs. Nature Medicine 19: 934-938.

Developmental pathways in adult physiology and disease

Beckervordersandforth R, Ebert B, Schäffner I, Moss J, Fiebig C, Shin J, Moore DL, Ghosh L, Trinchero MF, Stockburger C, Friedland K, Steib K, von Wittgenstein J, Keiner S, Redecker C, Hölter SM, Xiang W, Wurst W, Jagasia R, Schinder AF, Ming GL, Toni N, Jessberger S, Song H, Lie DC (2017) Role of Mitochondrial Metabolism in the Control of Early Lineage Progression and Aging Phenotypes in Adult Hippocampal Neurogenesis. Neuron. 2017 Mar 22;93(6):1518.

Ettle B, Kuhbandner K, Jörg S, Hoffmann A, Winkler J, Linker RA (2016) α-Synuclein deficiency promotes neuroinflammation by increasing Th1 cell-mediated immune responses. J Neuroinflammation 26;13(1):201.

Regus-Leidig H, Fuchs M, Löhner M, Leist SR, Leal-Ortiz S, Chiodo VA, Hauswirth WW, Garner CC, Brandstätter JH (2014) In vivo knockdown of Piccolino disrupts presynaptic ribbon morphology in mouse photoreceptor synapses. Front Cell Neurosci 8:259.

Regus-Leidig H, Atorf J, Feigenspan A, Kremers J, Maw MM, Brandstätter JH (2014) Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2. PLoS ONE 9:e86769.

Ninkovic J, Steiner-Mezzadri A, Jawerka M, Akinci U, Masserdotti G, Petricca S, Fischer J, von Holst A, Beckers J, Lie DC, Petrik D, Miller E, Tang J, Wu J, Lefebvre V, Demmers J, Eisch A, Metzger D, Crabtree G, Irmler M, Poot R, Gotz M (2013) The BAF complex interacts with Pax6 in adult neural progenitors to establish a neurogenic cross-regulatory transcriptional network. Cell stem cell 13: 403-18.

Mu L, Berti L, Masserdotti G, Covic M, Michaelidis TM, Doberauer K, Merz K, Rehfeld F, Haslinger A, Wegner M, Sock E, Lefebvre V, Couillard-Despres S, Aigner L, Berninger B, Lie DC (2012) SoxC transcription factors are required for neuronal differentiation in adult hippocampal neurogenesis. J Neurosci 32: 3067-80.

Genetics of human neurodevelopmental and neuropsychiatric diseases

Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, Rauch A, Stunnenberg HG, Uebe S, Vasileiou G, Reis A, Zhou H, Zweier C (2013) De novo mutations in the genome organizer CTCF cause intellectual disability. Am J Hum Genet 93: 124-31.

Hoyer J, Ekici AB, Endele S, Popp B, Zweier C, Wiesener A, Wohlleber E, Dufke A, Rossier E, Petsch C, Zweier M, Gohring I, Zink AM, Rappold G, Schrock E, Wieczorek D, Riess O, Engels H, Rauch A, Reis A (2012) Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet 90: 565-72.

Schanze D, Ekici AB, Pfuhlmann B, Reis A, Stober G (2012) Evaluation of conserved and ultra-conserved non-genic sequences in chromosome 15q15-linked periodic catatonia. Am J Med Genet B Neuropsychiatr Genet 159B: 77-86.

Schanze D, Ekici AB, Gawlik M, Pfuhlmann B, Reis A, Stober G (2011) Evaluation of risk loci for schizophrenia derived from genome-wide association studies in a German population. Am J Med Genet B Neuropsychiatr Genet 156: 198-203.

Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A (2007) Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 80:994-1001

Developmental pathways as therapeutic targets

Weider, M., Wegener, A., Schmitt, C., Küspert, M., Hillgärtner, S., Bösl, M.R., Hermans-Borgmeyer, I., Nait-Oumesmar, B., Wegner, M. (2015) Elevated in vivo levels of a single transcription factor directly convert satellite glia into oligodendrocyte-like cells. PLoS Genet. 11, e1005008

Leuner K, Li W, Amaral MD, Calfa G, Schuwald AM, Harteneck C, Inoue T, Pozzo-Miller L (2013) Hyperforin modulates dendritic spine morphology in hippocampal pyramidal neurons by activating Ca(2+) -permeable TRPC6 channels. Hippocampus 23:40–52. doi: 10.1002/hipo.22052

Lee DH, Geyer E, Flach AC, Jung K, Gold R, Flugel A, Linker RA, Luhder F (2012) Central nervous system rather than immune cell-derived BDNF mediates axonal protective effects early in autoimmune demyelination. Acta Neuropathol., 123, 247-258.

Linker RA, Lee DH, Ryan S, van Dam AM, Conrad R, Bista P, Zeng W, Hronowsky X, Buko A, Chollate S, Ellrichmann G, Brück W, Dawson K, Goelz S, Wiese S, Scannevin RH, Lukashev M, Gold R (2011) Fumaric acid esters exert neuroprotective effects in neuroinflammation via activation of the Nrf2 antioxidant pathway. Brain, 134, 678-692.