Selected publications from SFB 665 projects

2016


Birchmeier C, Bennett DL (2016) Neuregulin/ErbB Signaling in Developmental Myelin Formation and Nerve Repair. Curr Top Dev Biol 116:45-64; DOI 10.3389/fcell.2015.00020. Abstract


Christ A, Herzog K, Willnow TE (2016) LRP2, An auxiliary receptor that controls sonic hedgehog signaling in development and disease. Dev Dyn.; DOI 10.1002/dvdy.24394. Abstract


2015


Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, RoelensF, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A,Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM (2015) Redefining the MED13L syndrome. Eur J Hum Genet 23:1308-1317; DOI 10.1038/ejhg.2015.26.
Abstract


Baddack U, Frahm S, Antolin-Fontes B, Grobe J, Lipp M, Muller G, Ibanez-Tallon I (2015) Suppression of Peripheral Pain by Blockade of Voltage-Gated Calcium 2.2 Channels in Nociceptors Induces RANKL and Impairs Recovery From Inflammatory Arthritis in a Mouse Model. Arthritis Rheumatol 67:1657-1667; DOI 10.1002/art.39094. Abstract


Baxter PS, Bell KF, Hasel P, Kaindl AM, Fricker M, Thomson D, Cregan SP, Gillingwater TH, Hardingham GE (2015) Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system. Nat Commun 6:6761; DOI 10.1038/ncomms7761. Abstract


Christ A, Christa A, Klippert J, Eule JC, Bachmann S, Wallace VA, Hammes A, Willnow TE (2015) LRP2 Acts as SHH Clearance Receptor to Protect the Retinal Margin from Mitogenic Stimuli. Dev Cell 35:36-48; DOI 10.1016/j.devcel.2015.09.001. Abstract


Cuevas E, Rybak-Wolf A, Rohde AM, Nguyen DT, Wulczyn FG (2015) Lin41/Trim71 is essential for mouse development and specifically expressed in postnatal ependymal cells of the brain. Front Cell Dev Biol 3:20; DOI 10.3389/fcell.2015.00020. Abstract


Franzoni E, Booker SA, Parthasarathy S, Rehfeld F, Grosser S, Srivatsa S, Fuchs HR, Tarabykin V, Vida I, Wulczyn FG (2015) miR-128 regulates neuronal migration, outgrowth and intrinsic excitability via the intellectual disability gene Phf6. Elife 4; DOI 10.7554/eLife.04263. Abstract


Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Albrecht B, Wieczorek D, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Hoffmann GF, Mayr JA, Meitinger T, Bolognini R, Schuelke M, Nuoffer JM, Kölker S, Prokisch H, Klopstock T (2015) Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann Clin Transl Neurol 2:492-509; DOI 10.1002/acn3.189. Abstract


Jia S, Wildner H, Birchmeier C (2015) Insm1 controls the differentiation of pulmonary neuroendocrine cells by repressing Hes1. Dev Biol 408:90-98; DOI 10.1016/j.ydbio.2015.10.009. Abstract


Kraemer N, Issa-Jahns L, Neubert G, Ravindran E, Mani S, Ninnemann O, Kaindl AM (2015a) Novel Alternative Splice Variants of Mouse Cdk5rap2. PLoS One 10:e0136684; DOI 10.1371/journal.pone.0136684. Abstract


Kraemer N, Picker-Minh S, Abbasi AA, Frohler S, Ninnemann O, Khan MN, Ali G, Chen W, Kaindl AM (2015b) Genetic causes of MCPH in consanguineous Pakistani families. Clin Genet.; DOI 10.1111/cge.12685. Abstract


Kraemer N, Ravindran E, Zaqout S, Neubert G, Schindler D, Ninnemann O, Graf R, Seiler AE, Kaindl AM (2015c) Loss of CDK5RAP2 affects neural but not non-neural mESC differentiation into cardiomyocytes. Cell Cycle 14:2044-2057; DOI 10.1080/15384101.2015.1044169. Abstract


Mendoza E, Tokarev K, During DN, Retamosa EC, Weiss M, Arpenik N, Scharff C (2015) Differential coexpression of FoxP1, FoxP2, and FoxP4 in the Zebra Finch (Taeniopygia guttata) song system. J Comp Neurol 523:1318-1340; DOI 10.1002/cne.23731. Abstract


Omerbasic D, Schuhmacher LN, Bernal Sierra YA, Smith ES, Lewin GR (2015) ASICs and mammalian mechanoreceptor function. Neuropharmacology 94:80-86; DOI 10.1016/j.neuropharm.2014.12.007. Abstract


Rajab A, Schuelke M, Gill E, Zwirner A, Seifert F, Morales Gonzalez S, Knierim E (2015) Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. J Med Genet 52:607-611; DOI 10.1136/jmedgenet-2015-103083. Abstract


Rehfeld F, Rohde AM, Nguyen DT, Wulczyn FG (2015) Lin28 and let-7: ancient milestones on the road from pluripotency to neurogenesis. Cell Tissue Res 359:145-160; DOI 10.1007/s00441-014-1872-2. Abstract


Rohrmeier M, Zuidema W, Wiggins GA, Scharff C (2015) Principles of structure building in music, language and animal song. Philos Trans R Soc Lond B Biol Sci 370:20140097; DOI 10.1098/rstb.2014.0097. Abstract


Schottmann G, Jungbluth H, Schara U, Knierim E, Morales Gonzalez S, Gill E, Seifert F, Norwood F, Deshpande C, von Au K, Schuelke M, Senderek J (2015) Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. Neurology 84:523-531; DOI 10.1212/WNL.0000000000001220. Abstract


Schrenk-Siemens K, Wende H, Prato V, Song K, Rostock C, Loewer A, Utikal J, Lewin GR, Lechner SG, Siemens J (2015) PIEZO2 is required for mechanotransduction in human stem cell-derived touch receptors. Nat Neurosci 18:10-16; DOI 10.1038/nn.3894. Abstract


Schuster S, Rivalan M, Strauss U, Stoenica L, Trimbuch T, Rademacher N, Parthasarathy S, Lajko D, Rosenmund C, Shoichet SA, Winter Y, Tarabykin V, Rosario M (2015) NOMA-GAP/ARHGAP33 regulates synapse development and autistic-like behavior in the mouse. Mol Psychiatry 20:1120-1131; DOI 10.1038/mp.2015.42. Abstract


Siebert M, Bohme MA, Driller JH, Babikir H, Mampell MM, Rey U, Ramesh N, Matkovic T, Holton N, Reddy-Alla S, Gottfert F, Kamin D, Quentin C, Klinedinst S, Andlauer TF, Hell SW, Collins CA, Wahl MC, Loll B, Sigrist SJ (2015) A high affinity RIM-binding protein/Aplip1 interaction prevents the formation of ectopic axonal active zones. Elife 4; DOI 10.7554/eLife.06935. Abstract


Srivatsa S, Parthasarathy S, Molnar Z, Tarabykin V (2015) Sip1 downstream Effector ninein controls neocortical axonal growth, ipsilateral branching, and microtubule growth and stability. Neuron 85:998-1012; DOI 10.1016/j.neuron.2015.01.018. Abstract


Zhu N, Heinrich V, Dickhaus T, Hecht J, Robinson PN, Mundlos S, Kamphans T, Krawitz PM (2015) Strategies to improve the performance of rare variant association studies by optimizing the selection of controls. Bioinformatics 31:3577-3583; DOI 10.1093/bioinformatics/btv457. Abstract


2014


Ceko M, Milenkovic N, le Coutre P, Westermann J, Lewin GR (2014) Inhibition of c-Kit signaling is associated with reduced heat and cold pain sensitivity in humans. Pain 155:1222-1228; DOI 10.1016/j.pain.2014.03.010. Abstract


Dyachuk V, Furlan A, Shahidi MK, Giovenco M, Kaukua N, Konstantinidou C, Pachnis V, Memic F, Marklund U, Muller T, Birchmeier C, Fried K, Ernfors P, Adameyko I (2014) Neurodevelopment. Parasympathetic neurons originate from nerve-associated peripheral glial progenitors. Science 345:82-87; DOI 10.1126/science.1253281. Abstract


Haseleu J, Omerbasic D, Frenzel H, Gross M, Lewin GR (2014) Water-induced finger wrinkles do not affect touch acuity or dexterity in handling wet objects. PLoS One 9:e84949; DOI 10.1371/journal.pone.0084949. Abstract


Haselmann V, Kurz A, Bertsch U, Hübner S, Olempska-Müller M, Fritsch J, Häsler R, Pickl A, Fritsche H, Annewanter F, Engler C, Fleig B, Bernt A, Röder C, Schmidt H, Gelhaus C, Hauser C, Egberts JH, Heneweer C, Rohde AM, Böger C, Knippschild U, Röcken C, Adam D, Walczak H, Schütze S, Janssen O, Wulczyn FG, Wajant H, Kalthoff H, Trauzold A (2014) Nuclear death receptor TRAIL-R2 inhibits maturation of let-7 and promotes proliferation of pancreatic and other tumor cells. Gastroenterology 146:278-290; DOI 10.1053/j.gastro.2013.10.009. Abstract


Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM (2014) Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. Am J Hum Genet 94:278-287; DOI 10.1016/j.ajhg.2013.12.012. Abstract


Hu H, Matter ML, Issa-Jahns L, Jijiwa M, Kraemer N, Musante L, de la Vega M, Ninnemann O, Schindler D, Damatova N, Eirich K, Sifringer M, Schrötter S, Eickholt BJ, van den Heuvel L, Casamina C, Stoltenburg-Didinger G, Ropers HH, Wienker TF, Hübner C, Kaindl AM (2014a) Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Ann Clin Transl Neurol 1:1024-1035; DOI 10.1002/acn3.149. Abstract


Hu H, Suckow V, Musante L, Roggenkamp V, Kraemer N, Ropers HH, Hubner C, Wienker TF, Kaindl AM (2014b) Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations. Cell Cycle 13:1650-1651; DOI 10.4161/cc.28706. Abstract


Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Gießelmann S, Beil FT, Pou-Serradell A, Vílchez JJ, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hübner CA, Gal A, Amling M, Mundlos S, Baets J, Kurth I (2014) Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain 137:683-692; DOI 10.1093/brain/awt357. Abstract


Krawitz PM, Schiska D, Kruger U, Appelt S, Heinrich V, Parkhomchuk D, Timmermann B, Millan JM, Robinson PN, Mundlos S, Hecht J, Gross M (2014) Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. Mol Genet Genomic Med 2:393-401; DOI 10.1002/mgg3.92. Abstract


Kubikova L, Bosikova E, Cvikova M, Lukacova K, Scharff C, Jarvis ED (2014) Basal ganglia function, stuttering, sequencing, and repair in adult songbirds. Sci Rep 4:6590; DOI 10.1038/srep06590. Abstract


Kur E, Mecklenburg N, Cabrera RM, Willnow TE, Hammes A (2014) LRP2 mediates folate uptake in the developing neural tube. J Cell Sci 127:2261-2268; DOI 10.1242/jcs.140145. Abstract


Lewin GR, Nykjaer A (2014) Pro-neurotrophins, sortilin, and nociception. Eur J Neurosci 39:363-374; DOI 10.1111/ejn.12466. Abstract


Loos M, Mueller T, Gouwenberg Y, Wijnands R, van der Loo RJ, Neuro BMPC, Birchmeier C, Smit AB, Spijker S (2014) Neuregulin-3 in the mouse medial prefrontal cortex regulates impulsive action. Biol Psychiatry 76:648-655; DOI 10.1016/j.biopsych.2014.02.011. Abstract


Milenkovic N, Zhao WJ, Walcher J, Albert T, Siemens J, Lewin GR, Poulet JF (2014) A somatosensory circuit for cooling perception in mice. Nat Neurosci 17:1560-1566; DOI 10.1038/nn.3828. Abstract


Parthasarathy S, Srivatsa S, Nityanandam A, Tarabykin V (2014) Ntf3 acts downstream of Sip1 in cortical postmitotic neurons to control progenitor cell fate through feedback signaling. Development 141:3324-3330; DOI 10.1242/dev.114173. Abstract


Picker-Minh S, Busche A, Hartmann B, Spors B, Klopocki E, Hubner C, Horn D, Kaindl AM (2014) Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1. Orphanet J Rare Dis 9:113; DOI 10.1186/s13023-014-0113-9. Abstract


Ragancokova D, Rocca E, Oonk AM, Schulz H, Rohde E, Bednarsch J, Feenstra I, Pennings RJ, Wende H, Garratt AN (2014) TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction. J Clin Invest 124:1214-1227; Abstract


Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11:361-362; DOI 10.1038/nmeth.2890. Abstract


Sheean ME, McShane E, Cheret C, Walcher J, Muller T, Wulf-Goldenberg A, Hoelper S, Garratt AN, Kruger M, Rajewsky K, Meijer D, Birchmeier W, Lewin GR, Selbach M, Birchmeier C (2014) Activation of MAPK overrides the termination of myelin growth and replaces Nrg1/ErbB3 signals during Schwann cell development and myelination. Genes Dev 28:290-303; DOI 10.1101/gad.230045.113. Abstract


Srivatsa S, Parthasarathy S, Britanova O, Bormuth I, Donahoo AL, Ackerman SL, Richards LJ, Tarabykin V (2014) Unc5C and DCC act downstream of Ctip2 and Satb2 and contribute to corpus callosum formation. Nat Commun 5:3708; DOI 10.1038/ncomms4708. Abstract


Ter-Avetisyan G, Rathjen FG, Schmidt H (2014) Bifurcation of axons from cranial sensory neurons is disabled in the absence of Npr2-induced cGMP signaling. J Neurosci 34:737-747; DOI 10.1523/JNEUROSCI.4183-13.2014. Abstract


von Bernuth H, Ravindran E, Du H, Frohler S, Strehl K, Kramer N, Issa-Jahns L, Amulic B, Ninnemann O, Xiao MS, Eirich K, Kolsch U, Hauptmann K, John R, Schindler D, Wahn V, Chen W, Kaindl AM (2014) Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2). Orphanet J Rare Dis 9:116; DOI 10.1186/s13023-014-0116-6. Abstract


von der Hagen M, Pivarcsi M, Liebe J, von Bernuth H, Didonato N, Hennermann JB, Buhrer C, Wieczorek D, Kaindl AM (2014) Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature. Dev Med Child Neurol 56:732-741; DOI 10.1111/dmcn.12425. Abstract


Wohlgemuth S, Adam I, Scharff C (2014) FoxP2 in songbirds. Curr Opin Neurobiol 28:86-93; DOI 10.1016/j.conb.2014.06.009. Abstract


2013


Farag HG, Froehler S, Oexle K, Ravindran E, Schindler D, Staab T, Huebner A, Kraemer N, Chen W, Kaindl AM (2013) Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation. Orphanet J Rare Dis 8:178; DOI 10.1186/1750-1172-8-178. Abstract


Garcia-Calero E, Scharff C (2013) Calbindin expression in developing striatum of zebra finches and its relation to the formation of area X. J Comp Neurol 521:326-341; DOI 10.1002/cne.23174. Abstract


Issa L, Kraemer N, Rickert CH, Sifringer M, Ninnemann O, Stoltenburg-Didinger G, Kaindl AM (2013) CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly. Cereb Cortex 23:2245-2260; DOI 10.1093/cercor/bhs212. Abstract


Issa L, Mueller K, Seufert K, Kraemer N, Rosenkotter H, Ninnemann O, Buob M, Kaindl AM, Morris-Rosendahl DJ (2013) Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation. Orphanet J Rare Dis 8:59; DOI 10.1186/1750-1172-8-59. Abstract


Krawitz PM, Hochsmann B, Murakami Y, Teubner B, Kruger U, Klopocki E, Neitzel H, Hoellein A, Schneider C, Parkhomchuk D, Hecht J, Robinson PN, Mundlos S, Kinoshita T, Schrezenmeier H (2013) A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood 122:1312-1315; DOI 10.1182/blood-2013-01-481499. Abstract


Krawitz PM, Murakami Y, Riess A, Hietala M, Kruger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D (2013) PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet 92:584-589; DOI 10.1016/j.ajhg.2013.03.011. Abstract


Matkovic T, Siebert M, Knoche E, Depner H, Mertel S, Owald D, Schmidt M, Thomas U, Sickmann A, Kamin D, Hell SW, Burger J, Hollmann C, Mielke T, Wichmann C, Sigrist SJ (2013) The Bruchpilot cytomatrix determines the size of the readily releasable pool of synaptic vesicles. J Cell Biol 202:667-683; DOI 10.1083/jcb.201301072. Abstract


Nguyen-Minh S, Drossel K, Horn D, Rost I, Spors B, Kaindl AM (2013) Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy. Gene 523:92-98; DOI 10.1016/j.gene.2013.03.078. Abstract


Scharff C, Adam I (2013) Neurogenetics of birdsong. Curr Opin Neurobiol 23:29-36; DOI 10.1016/j.conb.2012.10.001. Abstract


Thompson CK, Schwabe F, Schoof A, Mendoza E, Gampe J, Rochefort C, Scharff C (2013) Young and intense: FoxP2 immunoreactivity in Area X varies with age, song stereotypy, and singing in male zebra finches. Front Neural Circuits 7:24; DOI 10.3389/fncir.2013.00024. Abstract