Overview of original articles published by CMMC members in 2012

Selected publications related to CMMC-projects are listed in alphabetical order by the first author published in 2012.

  1. Abety AN, Fox JW, Schonefuss A, Zamek J, Landsberg J, Krieg T, Blobel C, Mauch C, and Zigrino P (2012). Stromal fibroblast-specific expression of ADAM-9 modulates proliferation and apoptosis in melanoma cells in vitro and in vivo. J Invest Dermatol 132, 2451-8.

  2. Agarwal P, Zwolanek D, Keene DR, Schulz JN, Blumbach K, Heinegard D, Zaucke F, Paulsson M, Krieg T, Koch M, and Eckes B (2012). Collagen XII and XIV - new partners of cartilage oligomeric matrix protein in the skin extracellular matrix suprastructure. J Biol Chem 287, 22549-22559.

  3. Aghdam SY, Eming SA, Willenborg S, Neuhaus B, Niessen CM, Partridge L, Krieg T, and Brüning JC (2012). Vascular endothelial insulin/IGF-1 signaling controls skin wound vascularization. Biochem Biophys Res Commun 421, 197-202.

  4. Almajan ER, Richter R, Paeger L, Martinelli P, Barth E, Decker T, Larsson NG, Kloppenburg P, Langer T, and Rugarli EI (2012). AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival. J Clin Invest 122, 4048-4058.

  5. von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nürnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, Nürnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, and Kubisch C (2012). A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss. Am J Hum Genet 91, 919-927.

  6. Anand R, Langer T, and Baker MJ (2012). Proteolytic control of mitochondrial function and morphogenesis. Biochim Biophys Acta 1833, 195-204.


  7. Asgharzadeh S, Salo JA, Ji L, Oberthuer A, Fischer M, Berthold F, Hadjidaniel M, Liu CW, Metelitsa LS, Pique-Regi R, Wakamatsu P, Villablanca JG, Kreissman SG, Matthay KK, Shimada H, London WB, Sposto R, and Seeger RC (2012). Clinical significance of tumor-associated inflammatory cells in metastatic neuroblastoma. J Clin Oncol 30, 3525-3532.

  8. Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, Yigit G, Pohl E, Becker J, Frommolt P, Sonntag C, Altmüller J, Zimmermann K, Greenspan DS, Akarsu NA, Netzer C, Schonau E, Wirth R, Hammerschmidt M, Nürnberg P, Wollnik B, and Carney TJ (2012). Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am J Hum Genet 90, 661-674.

  9. Bade VN, Nickels J, Keusekotten K, and Praefcke GJ (2012). Covalent protein modification with ISG15 via a conserved cysteine in the hinge region. PLoS One 7, e38294.

  10. Bechtel M, Keller MV, Bloch W, Sasaki T, Boukamp P, Zaucke F, Paulsson M, and Nischt R (2012). Different domains in nidogen-1 and nidogen-2 drive basement membrane formation in skin organotypic cocultures. FASEB J 26, 3637-3648.

  11. Becker AA, Graeser MK, Landwehr C, Hilger T, Baus W, Wappenschmidt B, Meindl A, Weber RG, and Schmutzler RK (2012) A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity. Breast Cancer Res Treat 135, 167-175.

  12. Becker K, Freude S, Zemva J, Stohr O, Krone W, and Schubert M (2012). Chronic peripheral hyperinsulinemia has no substantial influence on tau phosphorylation in vivo. Neurosci Lett 516, 306-310.

  13. Behrendt K, Klatte J, Pofahl R, Bloch W, Smyth N, Tscharntke M, Krieg T, Paus R, Niessen C, Niemann C, Brakebusch C, and Haase I (2012). A function for Rac1 in the terminal differentiation and pigmentation of hair. J Cell Sci 125, 896-905.

  14. Bendon CL, Fenwick AL, Hurst JA, Nürnberg G, Nürnberg P, Wall SA, Wilkie AO, and Johnson D (2012). Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. BMC Med Genet 13, 104.

  15. Benzing T, and Schermer B (2012). Clinical spectrum and pathogenesis of nephronophthisis. Curr Opin Nephrol Hypertens 21, 272-278.

  16. Blumbach K, Niehoff A, Belgardt BF, Ehlen HW, Schmitz M, Hallinger R, Schulz JN, Brüning JC, Krieg T, Schubert M, Gullberg D, and Eckes B (2012). Dwarfism in mice lacking collagen-binding integrins alpha2beta1 and alpha11beta1 is caused by severely diminished IGF-1 levels. J Biol Chem 287, 6431-6440.

  17. Boecke A, Sieger D, Neacsu CD, Kashkar H, and Krönke M (2012). Factor Associated with Neutral Sphingomyelinase Activity Mediates Navigational Capacity of Leukocytes Responding to Wounds and Infection: Live Imaging Studies in Zebrafish Larvae. J Immunol 189, 1559-66.

  18. Boggetti B, and Niessen CM (2012). Adherens junctions in Mammalian development, homeostasis and disease: lessons from mice. Subcell Biochem 60, 321-355.

  19. Borck G, Shin BS, Stiller B, Mimouni-Bloch A, Thiele H, Kim JR, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K, Konen O, Nürnberg P, Munnich A, Schwartz CE, Gothelf D, Colleaux L, Dever TE, Kubisch C, and Basel-Vanagaite L (2012). eIF2gamma Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation. Mol Cell 48, 641-6.

  20. Borgal L, Habbig S, Hatzold J, Liebau MC, Dafinger C, Sacarea I, Hammerschmidt M, Benzing T, and Schermer B (2012). The Ciliary Protein Nephrocystin-4 Translocates the Canonical Wnt-Regulator Jade-1 to the Nucleus to Negatively Regulate Beta-Catenin Signaling. J Biol Chem 287, 25370-80.

  21. Borgogna C, Zavattaro E, De Andrea M, Griffin HM, Dell'Oste V, Azzimonti B, Landini MM, Peh WL, Pfister H, Doorbar J, Landolfo S, and Gariglio M (2012). Characterization of beta papillomavirus E4 expression in tumours from Epidermodysplasia Verruciformis patients and in experimental models. Virology 423, 195-204.

  22. Brahler S, Ising C, Hagmann H, Rasmus M, Hoehne M, Kurschat C, Kisner T, Goebel H, Shankland SJ, Addicks K, Thaiss F, Schermer B, Pasparakis M, Benzing T, and Brinkkoetter PT (2012). Intrinsic proinflammatory signaling in podocytes contributes to podocyte damage and prolonged proteinuria. Am J Physiol Renal Physiol 303, F1473-1485.

  23. Brandt MC, Mahfoud F, Reda S, Schirmer SH, Erdmann E, Bohm M, and Hoppe UC (2012). Renal sympathetic denervation reduces left ventricular hypertrophy and improves cardiac function in patients with resistant hypertension. J Am Coll Cardiol 59, 901-909.

  24. Brandt MC, Reda S, Mahfoud F, Lenski M, Bohm M, and Hoppe UC (2012). Effects of Renal Sympathetic Denervation on Arterial Stiffness and Central Hemodynamics in Patients With Resistant Hypertension. J Am Coll Cardiol 60, 1956-65.

  25. Breloy I, Pacharra S, Aust C, and Hanisch FG (2012). A sensitive gel-based global O-glycomics approach reveals high levels of mannosyl glycans in the high mass region of the mouse brain proteome. Biol Chem 393, 709-717.

  26. Breloy I, Pacharra S, Ottis P, Bonar D, Grahn A, and Hanisch FG (2012). O-Linked N,N'-Diacetyllactosamine (LacdiNAc)-modified Glycans in Extracellular Matrix Glycoproteins Are Specifically Phosphorylated at Subterminal N-Acetylglucosamine. J Biol Chem 287, 18275-18286.

  27. Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou WB, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJF, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren HN, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang SH, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nürnberg G, Nürnberg P, Levy S, Smogorzewska A, Otto EA, and Hildebrandt F (2012). Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 150, 533-548.

  28. Chang JH, Xiao Y, Hu H, Jin J, Yu J, Zhou X, Wu X, Johnson HM, Akira S, Pasparakis M, Cheng X, and Sun SC (2012). Ubc13 maintains the suppressive function of regulatory T cells and prevents their conversion into effector-like T cells. Nat Immunol 13, 481-490.

  29. Cheadle EJ, Sheard V, Hombach AA, Chmielewski M, Riet T, Berrevoets C, Schooten E, Lamers C, Abken H, Debets R, and Gilham DE (2012). Chimeric antigen receptors for T-cell based therapy. Methods Mol Biol 907, 645-666.

  30. Chmielewski M, and Abken H (2012). CAR T cells transform to trucks: chimeric antigen receptor-redirected T cells engineered to deliver inducible IL-12 modulate the tumour stroma to combat cancer. Cancer Immunol Immunother 61, 1269-7.

  31. Chmielewski M, Hahn O, Rappl G, Nowak M, Schmidt-Wolf IH, Hombach AA, and Abken H (2012). T cells that target carcinoembryonic antigen eradicate orthotopic pancreatic carcinomas without inducing autoimmune colitis in mice. Gastroenterology 143, 1095-1107.

  32. Chmielewski M, Rappl G, Hombach AA, and Abken H (2012). T cells redirected by a CD3zeta chimeric antigen receptor can establish self-antigen-specific tumour protection in the long term. Gene Ther, 20, 177-86.

  33. Chmielewski M, Maliar A, Eshhar Z, and Abken H (2012). CAR`s made it to the pancreas. Oncoimmunology 1, 1387-1389.

  34. Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Hohne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, and Baumgartner MR (2012). Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism. Nat Genet 44, 1152-1155.

  35. Connerth M, Tatsuta T, Haag M, Klecker T, Westermann B, and Langer T (2012). Intramitochondrial Transport of Phosphatidic Acid in Yeast by a Lipid Transfer Protein. Science 388, 815-818.

  36. Corogeanu D, Willmes R, Wolke M, Plum G, Utermohlen O, and Krönke M (2012). Therapeutic concentrations of antibiotics inhibit Shiga toxin release from enterohemorrhagic E. coli O104:H4 from the 2011 German outbreak. BMC Microbiol 12, 160.

  37. Couch FJ, Gaudet MM, Antoniou AC, Ramus SJ, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, Wang X, Kirchhoff T, McGuffog L, Barrowdale D, Lee A, Healey S, Sinilnikova OM, Andrulis IL, Ozcelik H, Mulligan AM, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Caligo MA, von Wachtenfeld A, Barbany-Bustinza G, Loman N, Soller M, Ehrencrona H, Karlsson P, Nathanson KL, Rebbeck TR, Domchek SM, Jakubowska A, Lubinski J, Jaworska K, Durda K, Zlowocka E, Huzarski T, Byrski T, Gronwald J, Cybulski C,Gorski B, Osorio A, Duran M, Tejada MI, Benitez J, Hamann U, Hogervorst FB, van Os TA, van Leeuwen FE, Meijers-Heijboer HE, Wijnen J, Blok MJ, Kets M, Hooning MJ, Oldenburg RA, Ausems MG, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Jacobs C, Eeles RA, Adlard J, Davidson R, Eccles DM, Cole T,Cook J, Paterson J, Brewer C, Douglas F, Hodgson SV, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Side LE, Bove B, Godwin AK, Stoppa-Lyonnet D, Fassy-Colcombet M, Castera L, Cornelis F, Mazoyer S, Leone M, Boutry-Kryza N, Bressac-de Paillerets B, Caron O, Pujol P, Coupier I, Delnatte C, Akloul L, Lynch HT, Snyder CL, Buys SS, Daly MB, Terry M, Chung WK, John EM, Miron A, Southey MC, Hopper JL, Goldgar DE, Singer CF, Rappaport C, Tea MK, Fink-Retter A, Hansen TV, Nielsen FC, Arason A, Vijai J, Shah S, Sarrel K, Robson ME, Piedmonte M, Phillips K, Basil J, Rubinstein WS, Boggess J, Wakeley K, Ewart-Toland A, Montagna M, Agata S, Imyanitov EN, Isaacs C, Janavicius R, Lazaro C, Blanco I, Feliubadalo L, Brunet J, Gayther SA, Pharoah PP, Odunsi KO, Karlan BY, Walsh CS, Olah E, Teo SH, Ganz PA, Beattie MS, van Rensburg EJ, Dorfling CM, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Heinritz W, Caldes T, de la Hoya M, Muranen TA, Nevanlinna H, Tischkowitz MD, Spurdle AB, Neuhausen SL, Ding YC, Lindor NM, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Bernard L, Viel A, Giannini G, Varesco L, Radice P, Greene MH, Mai PL, Easton DF, Chenevix-Trench G, Offit K, and Simard J (2012). Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. Cancer Epidemiol Biomarkers Prev 21, 645-657.

  38. Denton CP, Krieg T, Guillevin L, Schwierin B, Rosenberg D, Silkey M, Zultak M, and Matucci-Cerinic M (2012). Demographic, clinical and antibody characteristics of patients with digital ulcers in systemic sclerosis: data from the DUO Registry. Ann Rheum Dis 71, 718-21.

  39. Dierkes F, Andriopoulos N, Sucker C, Kuhr K, Hollenbeck M, Hetzel GR, Burst V, Teschner S, Rump LC, Benzing T, Grabensee B, and Kurschat CE (2012). Indicators of Acute and Persistent Renal Damage in Adult Thrombotic Microangiopathy. PLoS One 7.

  40. Eisenberger T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, and Bolz HJ (2012). Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. Orphanet J Rare Dis 7, 59.

  41. Fehrenschild D, Galli U, Breiden B, Bloch W, Schettina P, Brodesser S, Michels C, Gunschmann C, Sandhoff K, Niessen CM, and Niemann C (2012). TCF/Lef1-mediated control of lipid metabolism regulates skin barrier function. J Invest Dermatol 132, 337-345.

  42. Feitosa NM, Zhang J, Carney TJ, Metzger M, Korzh V, Bloch W, and Hammerschmidt M (2012). Hemicentin 2 and Fibulin 1 are required for epidermal-dermal junction formation and fin mesenchymal cell migration during zebrafish development. Dev Biol 369, 235-248.

  43. Feldkirchner S, Schessl J, Müller S, Schoser B, and Hanisch FG (2012). Patient-specific protein aggregates in myofibrillar myopathies: Laser microdissection and differential proteomics for identification of plaque components. Proteomics 12, 3598-609.

  44. Forstbauer LM, Brockschmidt FF, Moskvina V, Herold C, Redler S, Herzog A, Hillmer AM, Meesters C, Heilmann S, Albert F, Alblas M, Hanneken S, Eigelshoven S, Giehl KA, Jagielska D, Blume-Peytavi U, Garcia Bartels N, Kuhn J, Hennies HC, Goebeler M, Jung A, Peitsch WK, Kortum AK, Moll I, Kruse R, Lutz G, Wolff H, Blaumeiser B, Bohm M, Kirov G, Becker T, Nothen MM, and Betz RC (2012). Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. Eur J Hum Genet 20, 326-332.

  45. Frances D, and Niemann C (2012). Stem cell dynamics in sebaceous gland morphogenesis in mouse skin. Developmental Biology 363, 138-146.

  46. Franko A, von Kleist-Retzow JC, Bose M, Sanchez-Lasheras C, Brodesser S, Krut O, Kunz WS, Wiedermann D, Hoehn M, Stohr O, Moll L, Freude S, Krone W, Schubert M, and Wiesner RJ (2012). Complete failure of insulin-transmitted signaling, but not obesity-induced insulin resistance, impairs respiratory chain function in muscle. J Mol Med 90, 1145-60.

  47. Freude S, Schilbach K, Hettich MM, Bronneke HS, Zemva J, Krone W, and Schubert M (2012). Neuron-specific Deletion of a Single Copy of the Insulin-like Growth Factor-1 Receptor Gene Reduces Fat Accumulation during Aging. Horm MetaboL Res 44, 99-104.

  48. Freyer C, Cree LM, Mourier A, Stewart JB, Koolmeister C, Milenkovic D, Wai T, Floros VI, Hagstrom E, Chatzidaki EE, Wiesner RJ, Samuels DC, Larsson NG, and Chinnery PF (2012). Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission. Nat Genet 44, 1282-1285.

  49. Frommolt P, Abdallah AT, Altmüller J, Motameny S, Thiele H, Becker C, Stemshorn K, Fischer M, Freilinger T, and Nürnberg P (2012). Assessing the enrichment performance in targeted resequencing experiments. Hum Mutat 33, 635-641.

  50. Fu K, Mende Y, Bhetwal BP, Baker S, Perrino BA, Wirth B, and Fisher SA (2012). Tra2beta is required for tissue-specific splicing of a smooth muscle myosin phosphatase targeting subunit alternative exon. J Biol Chem 287, 16575-85.

  51. Galetin T, Tevoufouet EE, Sandmeyer J, Matthes J, Nguemo F, Hescheler J, Weiergraeber M, and Schneider T (2012). Pharmacoresistant Ca(v) 2.3 (E-type/R-type) voltage-gated calcium channels influence heart rate dynamics and may contribute to cardiac impulse conduction. Cell Biochem Funct, doi: 10.1002/cbf.2918.

  52. Gardizi M, Kurschat C, Riese A, Hahn M, Krieg T, Mauch C, and Kurschat P (2012). A decreased ratio between serum levels of the antagonistic angiopoietins 1 and 2 indicates tumour progression of malignant melanoma. Arch Dermatol Res 304, 397-400.

  53. Gerdes F, Tatsuta T, and Langer T (2012). Mitochondrial AAA proteases--towards a molecular understanding of membrane-bound proteolytic machines. Biochim Biophys Acta 1823, 49-55.

  54. Gilham DE, Debets R, Pule M, Hawkins RE, and Abken H (2012). CAR-T cells and solid tumors: tuning T cells to challenge an inveterate foe. Trends Mol Med 18, 377-384.

  55. Groma G, Xin W, Grskovic I, Niehoff A, Brachvogel B, Paulsson M, and Zaucke F (2012). Abnormal bone quality in COMP and matrilin-3 double deficient mice caused by increased TIMP-3 deposition and delayed aggrecan degradation. Arthritis Rheum 64, 2644-54.

  56. Grskovic I, Kutsch A, Frie C, Groma G, Stermann J, Schlotzer-Schrehardt U, Niehoff A, Moss SE, Rosenbaum S, Poschl E, Chmielewski M, Rappl G, Abken H, Bateman JF, Cheah KS, Paulsson M, and Brachvogel B (2012). Depletion of annexin A5, annexin A6, and collagen X causes no gross changes in matrix vesicle-mediated mineralization, but lack of collagen X affects hematopoiesis and the Th1/Th2 response. J Bone Miner Res 27, 2399-2412.

  57. Habbig S, Bartram MP, Sägmüller JG, Griessmann A, Franke M, Müller RU, Schwarz R, Hoehne M, Bergmann C, Tessmer C, Reinhardt HC, Burst V, Benzing T, and Schermer B (2012). The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ. Hum Mol Genet 21, 5528-38.

  58. Hagmann H, Thadhani R, Benzing T, Karumanchi SA, and Stepan H (2012). The Promise of Angiogenic Markers for the Early Diagnosis and Prediction of Preeclampsia. Clinical Chemistry 58, 837-845.

  59. Haldenwang PL, Klein T, Neef K, Riet T, Sterner-Kock A, Christ H, Wahlers T, and Strauch JT (2012). Evaluation of the use of lower body perfusion at 28{degrees}C in aortic arch surgery. Eur J Cardiothorac Surg 41, 100-8.

  60. Halevy A, Basel-Vanagaite L, Shuper A, Helman S, Har-Zahav A, Birk E, Maya I, Kornreich L, Inbar D, Nürnberg G, Nürnberg P, Steinberg T, and Straussberg R (2012). Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12. Pediatr Neurol 46, 363-368.

  61. Hanisch FG (2012). O-glycoproteomics: site-specific O-glycoprotein analysis by CID/ETD electrospray ionization tandem mass spectrometry and top-down glycoprotein sequencing by in-source decay MALDI mass spectrometry. Methods Mol Biol 842, 179-189.

  62. Hanisch FG, Kinlough CL, Staubach S, and Hughey RP (2012). MUC1 membrane trafficking: protocols for assessing biosynthetic delivery, endocytosis, recycling, and release through exosomes. Methods Mol Biol 842, 123-140.

  63. Hanisch FG, Ragge H, Kalinski T, Meyer F, Kalbacher H, and Hoffmann W (2012). Human gastric TFF2 peptide contains an N-linked fucosylated N,N'-diacetyllactosediamine (LacdiNAc) oligosaccharide. Glycobiology, 23, 2-11.

  64. Herweg J, and Schwarz G (2012). Splice-specific glycine receptor binding, folding, and phosphorylation of the scaffolding protein gephyrin. J Biol Chem 287, 12645-56.

  65. Hitzert MM, Bos AF, Bergman KA, Veldman A, Schwarz G, Santamaria-Araujo JA, Heiner-Fokkema R, Sival DA, Lunsing RJ, Arjune S, Kosterink JG, and van Spronsen FJ (2012). Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP. Pediatrics 130, 1005-1010.

  66. Hombach AA, and Abken H (2012). Antibody-IL2 fusion proteins for tumor targeting. Methods Mol Biol 907, 611-626.

  67. Hombach AA, Heiders J, Foppe M, Chmielewski M, and Abken H (2012). OX40 costimulation by a chimeric antigen receptor abrogates CD28 and IL-2 induced IL-10 secretion by redirected CD4(+) T cells. Oncoimmunology 1, 458-466.

  68. Hopker K, Hagmann H, Khurshid S, Chen S, Hasskamp P, Seeger-Nukpezah T, Schilberg K, Heukamp L, Lamkemeyer T, Sos ML, Thomas RK, Lowery D, Roels F, Fischer M, Liebau MC, Resch U, Kisner T, Rother F, Bartram MP, Müller RU, Fabretti F, Kurschat P, Schumacher B, Gaestel M, Medema RH, Yaffe MB, Schermer B, Reinhardt HC, and Benzing T (2012). AATF/Che-1 acts as a phosphorylation-dependent molecular modulator to repress p53-driven apoptosis. EMBO J 31, 3961-3975.

  69. Hopker K, Hagmann H, Khurshid S, Chen S, Schermer B, Benzing T, and Reinhardt HC (2012). Putting the brakes on p53-driven apoptosis. Cell Cycle 11, 4122-8.

  70. Hornig-Do HT, Tatsuta T, Buckermann A, Bust M, Kollberg G, Rotig A, Hellmich M, Nijtmans L, and Wiesner RJ (2012). Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly. EMBO J 31, 1293-1307.

  71. Horvath R, Holinski-Feder E, Neeve VC, Pyle A, Griffin H, Ashok D, Foley C, Hudson G, Rautenstrauss B, Nürnberg G, Nürnberg P, Kortler J, Neitzel B, Bassmann I, Rahman T, Keavney B, Loughlin J, Hambleton S, Schoser B, LochMüller H, Santibanez-Koref M, and Chinnery PF (2012). A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Mov Disord 27, 789-793.

  72. Hösel M, Broxtermann M, Janicki H, Esser K, Arzberger S, Hartmann P, Gillen S, Kleeff J, Stabenow D, Odenthal M, Knolle P, Hallek M, Protzer U, and Büning H (2012). Toll-like receptor 2-mediated innate immune response in human nonparenchymal liver cells toward adeno-associated viral vectors. Hepatology 55, 287-297.

  73. Huppke P, Brende C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Moller LB, Kaler SG, and Gartner J (2012). Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin. Am J Hum Genet 90, 61-68.

  74. Hussain MS, Baig SM, Neumann S, Nürnberg G, Farooq M, Ahmad I, Alef T, Hennies HC, Technau M, Altmüller J, Frommolt P, Thiele H, Noegel AA, and Nürnberg P (2012). A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function. Am J Hum Genet 90, 871-878.

  75. Jahn T, Zuther M, Friedrichs B, Heuser C, Guhlke S, Abken H, and Hombach AA (2012). An Il12-Il2-Antibody Fusion Protein Targeting Hodgkin's Lymphoma Cells Potentiates Activation Of Nk And T Cells For An Anti-Tumor Attack. PLoS One 7, e44482.

  76. John S, Thiebach L, Frie C, Mokkapati S, Bechtel M, Nischt R, Rosser-Davies S, Paulsson M, and Smyth N (2012). Epidermal transglutaminase (TGase 3) is required for proper hair development, but not the formation of the epidermal barrier. PLoS One 7, e34252.

  77. Jungblut M, Tiveron MC, Barral S, Abrahamsen B, Knobel S, Pennartz S, Schmitz J, Perraut M, Pfrieger FW, Stoffel W, Cremer H, and Bosio A (2012). Isolation and characterization of living primary astroglial cells using the new GLAST-specific monoclonal antibody ACSA-1. Glia 60, 894-907.

  78. Kakar N, Goebel I, Daud S, Nürnberg G, Agha N, Ahmad A, Nürnberg P, Kubisch C, Ahmad J, and Borck G (2012). A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly. Eur J Med Genet 55, 727-31.

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