• Kowalewski B, Heimann P, Ortkras T, Lüllmann-Rauch R, Sawada T, Walkley SU, Dierks T, Damme M. (2014) Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III). Hum Mol Genet. 24:1856-1868
  • Rothaug M, Zunke F, Mazzulli JR, Schweizer M, Altmeppen H, Lüllmann-Rauch R, Kallemeijn WW, Gaspar P, Aerts JM, Glatzel M, Saftig P, Krainc D, Schwake M, Blanz J. (2014) LIMP-2 expression is critical for ß-glucocerebrosidase activity and a-synuclein clearance. Proc Natl Acad Sci U S A. 111: 15573-15578.
  • Grimm C, Holdt LM, Chen CC, Hassan S, Müller C, Jörs S, Cuny H, Kissing S, Schröder B, Butz E, Northoff B, Castonguay J, Luber CA, Moser M, Spahn S, Lüllmann-Rauch R, Fendel C, Klugbauer N, Griesbeck O, Haas A, Mann M, Bracher F, Teupser D, Saftig P, Biel M, Wahl-Schott C. (2014) High susceptibility to fatty liver disease in two-pore channel 2-deficient mice. Nat Commun. 5: 4699
  • Luedde M, Lutz M, Carter N, Sosna J, Jacoby C, Vucur M, Gautheron J, Roderburg C, Borg N, Reisinger F, Hippe HJ, Linkermann A, Wolf MJ, Rose-John S, Lüllmann-Rauch R, Adam D, Flögel U, Heikenwalder M, Luedde T, Frey N. (2014) RIP3, a kinase promoting necroptotic cell death, mediates adverse remodelling after myocardial infarction. Cardiovasc Res. 103: 206-216
  • Schneppenheim J, Hüttl S, Mentrup T, Lüllmann-Rauch R, Rothaug M, Engelke M, Dittmann K, Dressel R, Araki M, Araki K, Wienands J, Fluhrer R, Saftig P, Schröder B. (2014) The intramembrane proteases signal Peptide peptidase-like 2a and 2b have distinct functions in vivo. Mol Cell Biol. 34: 1398-1411



    • Bronckers AL, Gueneli N, Lüllmann-Rauch R, Schneppenheim J, Moraru AP, Himmerkus N, Bervoets TJ, Fluhrer R, Everts V, Saftig P, Schröder B. (2013) The intramembrane protease SPPL2A is critical for tooth enamel formation. J Bone Miner Res. 28: 1622-1630
    • Schneppenheim J, Dressel R, Hüttl S, Lüllmann-Rauch R, Engelke M, Dittmann K, Wienands J, Eskelinen EL, Hermans-Borgmeyer I, Fluhrer R, Saftig P, Schröder B. (2013) The intramembrane protease SPPL2a promotes B cell development and controls endosomal traffic by cleavage of the invariant chain. J Exp Med. 210: 41-58


    • Kowalewski B, Lamanna WC, Lawrence R, Damme M, Stroobants S, Padva M, Kalus I, Frese MA, Lübke T, Lüllmann-Rauch R, D'Hooge R, Esko JD, Dierks T. (2012) Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice. Proc Natl Acad Sci U S A. 109: 10310-10315


    • Faldini E, Stroobants S, Lüllmann-Rauch R, Eckhardt M, Gieselmann V, Balschun D, D'Hooge R. (2011) Telencephalic histopathology and changes in behavioural and neural plasticity in a murine model for metachromatic leukodystrophy. Behav Brain Res. 222: 309-314
    • Weber S, Niessen MT, Prox J, Lüllmann-Rauch R, Schmitz A, Schwanbeck R, Blobel CP, Jorissen E, de Strooper B, Niessen CM, Saftig P. (2011) The disintegrin/metalloproteinase Adam10 is essential for epidermal integrity and Notch-mediated signaling. Development. 138: 495-505
    • Damme M, Stroobants S, Walkley SU, Lüllmann-Rauch R, D'Hooge R, Fogh J, Saftig P, Lübke T, Blanz J. (2011) Cerebellar alterations and gait defects as therapeutic outcome measures for enzyme replacement therapy in a-mannosidosis. J Neuropathol Exp Neurol. 70: 83-94 


    • Kollmann K, Damme M, Deuschl F, Kahle J, D’Hooge R, Lüllmann-Rauch R, Lübke T (2009) Molecular characterization and gene disruption of mouse lysosomal putative serine carboxypeptidase 1. FEBS J. 276: 1356-1369
    • Matzner U, Lüllmann-Rauch R, Stroobants S, Andersson C, Weigelt C, Eistrup C, Fogh J D’Hooge R, Gieselmann V (2009) Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model leukodystrophy. Mol Ther. 17: 600-606
    • Schröder J, Lüllmann-Rauch R, Himmerkus N, Pleines I, Nieswandt B, Orinska Z, Koch-Nolte F, Schröder B (2009) Deficiency of the tetraspanin CD63 associated with kidney pathology but normal lysosomal function. Mol Cell Biol. 29: 1083-1094


    • Berkovic SF, Dibbens LM, Oahlack A, Silver JD, Katerelos M, Vears DF, Lüllmann-Rauch R, Blanz J, Zhang RM, Dowling JP, Andermann E, Andermann F, Faldini E, D’Hooge R, Vadlamudi L Macdonell RA, Hodgson Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M (2008) Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes my glomerulosclerosis. AM J Hum Genet 82: 673-684
    • Blanz J, Stroobants S, Lüllmann-Rauch R, Morelle W, Lüdemann M, D’Hooge R, Reuterwall H, Michalski JC, Saftig P (2008) Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement ther mannosidosis mice. Hum Mol Genet. 15: 3437-3445
    • Westermann D, Mersmann J, Melchior A, Freudenberger T, Petrik C, Schaefer L, Lüllmann-Rauch R, Lettau Brand-Herrmann SM, Young MF, Schultheiss HP, Levkau B, Baba HA, Unger T, Zacharowski, K, Tschöpe C (2008) Biglycan ist required for adaptive remodeling after myocardial infarction. Circulation 117: 1269-1276


    • Eckhardt M, Hedayati KK, Pitsch J, Lüllmann-Rauch R, Beck H, Fewou SN, Gieselmann V (2007) Sulfatide storage in neurons causes hyperexcitability and axonal degeneration in a mouse model of metachromatic leukodystrophy. J Neurosci 27: 9009-9021
    • Matzner U, Matthes F, Herbst E, Lüllmann-Rauch R, Callaerts-Vegh Z, D`Hooge R, Weigel C, Eistrup C, Fogh J, Gieselmann V (2007) Induction of tolerance to human arylsulfatase A in a mouse model of metachromatic leukodystrophy. Mol Med 13: 471-479
    • Ramakrishnan H, Hedayati KK, Lüllmann-Rauch R, Wessig C, Fewou SN, Maier H, Goebel HH, Gieselmann V, Eckhardt M (2007) Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy. J Neurosci 27: 9482-9490


    • Franken S, Wittke D, Mansson JE, D`Hooge R, DeDeyn PP, Lüllmann-Rauch R, Matzner U, Gieselmann V (2006) Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene. Lipids Health Dis 5: 21-28
    • Knipper M, Clausen C, Rüttiger L, Zimmermann U, Lüllmann-Rauch R, Eskelinen EL, Schröder J, Schwake M, Saftig P (2006) Deafness in LIMP-2-deficient mice due to early loss of potassium channel KCNQ1/KCNE1 in marginal cells of the stria vascularis. J Physiol 576: 73-86
    • Strypmann J, Janssen PM, Prestle J, Engelen MA, Kögler H, Lüllmann-Rauch R, Eckhardt L, von Figura K, Landgrebe J, Mleczko A, Saftig P (2006) LAMP-2 deficient mice show depressed cardiac contractile function without significant changes in calcium handling. Basic Res Cardiol 101: 281-291


    • D`Hooge R, Lüllmann-Rauch R, Beckers T, Balschun D, Schwake M, Reiss K, von Figura K, Saftig P (2004) Neurocognitive and psychotiform behavioral alterations and enhanced hippocampal long-term potentiation in transgenic mice displaying neuropathological features of human alpha-mannosidosis. J Neurosci 25: 6539-6549
    • Matzner U, Herbst E, Hedayati KK, Lüllmann-Rauch R, Wessig C, Schröder S, Eistrup C, Möller C, Fogh J, Gieselmann V (2005) Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. Hum Mol Genet 14: 1139-1152


    • Eskelinen EL, Schmidt CK, Willenborg M, Fuertes G, Salvador N, Tanaka Y, Lüllmann-Rauch R, Hartmann D, Heeren J, von Figura K, Knecht E, Saftig P (2004) Disturbed cholesterol traffic but normal proteolytic function in LAMP-1/LAMP-2 double-deficient fibroblasts. Mol Biol Cell 15: 3132-3145
    • Roces DP, Lüllmann-Rauch R, Peng J, Balducci C, Anderson C, Tollersrud O, Fogh J, Orlacchio A, Beccari T, Saftig P, von Figura K (2004) Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical study. Hum Mol Genet 13: 1979-1988
    • Wittke D, Hartmann D, Gieselmann V, Lüllmann-Rauch R (2004) Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: cellular alterations and topographic distribution. Acta Neuropath 108:261-271


    • Gamp AC, Tanaka Y, Lüllmann-Rauch R, Wittke D, D`Hooge R, DeDeyn PP, Moser T, Maier H, Hartmann D, Reiss K, Illert AL, von Figura K, Saftig P (2003) LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neurophathy in mice. Hum Mol Genet 15: 631-646
    • Gieselmann V, Matzner U, Klein D, Mansson JE, D`Hooge R, DeDeyn PP, Lüllmann-Rauch R, Hartmann D, Harzer K (2003) Gene therapy: prospects for glycolipid storage diseases. Philos Trans R Soc Lond B Biol Sci 358: 931-925


    • Matzner U, Hartmann D, Lüllmann-Rauch R, Coenen R, Rothert F, Mansson JE, Fredman P, D`Hooge R, DeDeyn PP, Gieselmann V (2002) Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations. Gene Ther 9: 53-63


    • Bredehorn T, Clausen M, Duncker G, Lüllmann-Rauch R (2001) Morphological and functional changes due to drug-induced lysosomal storage of sulphated glycosaminoglycans in the rat retina. Graefes Arch Clin Exp Ophthalmol 239: 788-793
    • Coenen R, Gieselmann V, Lüllmann-Rauch R (2001) Morphological alterations in the inner ear of the arylsulfatase A-deficient mouse. Acta Neuropath (Berl) 101: 491-498
    • Lüllmann-Rauch R, Matzner U, Franken S, Hartmann D, Gieselmann V (2001) Lysosomal sulfolipid storage in the
      kidneys of mice deficient for arylsulfatase A (ASA) and of double-knockout mice deficient for ASA and
      galactosylceramide synthase. Histochem Cell Biol 116: 161-169
    • Matzner U, Schestag F, Hartmann D, Lüllmann-Rauch R, D`Hooge R, DeDeyn PP, Gieselmann V (2001) Bone marrow stem cell gene therapy of arylsulfatase A-deficient mice, using an arylsulfatase A mutant that is hypersecreted from retrovirally transduced donor-type cells. Hum Gene Ther 12: 1021-1033
    • Saftig P, Tanaka Y, Lüllmann-Rauch R, von Figura K (2001) Disease model: LAMP-2 enlightens Danon disease. Trends Mol Med 7: 37-39
    • Schott I, Hartmann D, Gieselmann V, Lüllmann-Rauch R (2001) Sulfatide storage in visceral organs of arylsulfatase A-deficient mice. Virchows Arch 439: 90-96
    • Suter A, Everts V, Boyde A, Jones SJ, Lüllmann-Rauch R, Hartmann D, Hayman AR, Cox TM, Evans MJ, Meister T, von Figura K, Saftig P (2001) Overlapping functions of lysosomal acid phosphatase (LAP) and tartrat-resistent acid phosphatase (Acp5) revealed by doubly deficient mice. Development 128: 4899-4910