Murine Cathepsin F Deficiency Causes Neuronal Lipofuscinosis and Late-Onset Neurological Disease

REFERENCES

• Berkovic, S. F., F. Andermann, E. Andermann, S. Carpenter, and L. Wolfe. 1988. Kufs disease: clinical features and forms. Am. J. Med. Genet. 5(Suppl.):105–109.
   Google Scholar
• Brunk, U. T., and A. Terman. 2002. Lipofuscin: mechanisms of age-related accumulation and influence on cell function. Free Radic. Biol. Med. 33:611–619.
   PubMed Web of Science ®Google Scholar
• Chapman, H. A., R. J. Riese, and G. P. Shi. 1997. Emerging roles for cysteine proteases in human biology. Annu. Rev. Physiol. 59:63–88.
   PubMed Web of Science ®Google Scholar
• Deussing, J., K. Tisljar, A. Papazoglou, and C. Peters. 2000. Mouse cathepsin F: cDNA cloning, genomic organization and chromosomal assignment of the gene. Gene 251:165–173.
   PubMedGoogle Scholar
• Drogemuller, C., A. Wohlke, and O. Distl. 2005. Evaluation of the canine TPP1 gene as a candidate for neuronal ceroid lipofuscinosis in Tibetan Terrier and Polish Owczarek Nizinny dogs. Anim. Genet. 36:178–179.
   PubMedGoogle Scholar
• Elleder, M., J. Sokolova, and M. Hrebicek. 1997. Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders. Acta Neuropathol. 93:379–390.
   PubMed Web of Science ®Google Scholar
• Felbor, U., B. Kessler, W. Mothes, H. H. Goebel, H. L. Ploegh, R. T. Bronson, and B. R. Olsen. 2002. Neuronal loss and brain atrophy in mice lacking cathepsins B and L. Proc. Natl. Acad. Sci. USA 99:7883–7888.
   PubMed Web of Science ®Google Scholar
• Goebel, H. H., S. E. Mole, and B. D. Lake. 1999. The neuronal ceroid lipofuscinoses (Batten disease), p. 211. IOS Press, Amsterdam, The Netherlands.
   Google Scholar
• Goebel, H. H., S. S. Schochet, M. Jaynes, W. Bruck, A. Kohlschutter, and F. Hentati. 1999. Progress in neuropathology of the neuronal ceroid lipofuscinoses. Mol. Genet. Metab. 66:367–372.
   PubMed Web of Science ®Google Scholar
• Gupta, P., A. A. Soyombo, A. Atashband, K. E. Wisniewski, J. M. Shelton, J. A. Richardson, R. E. Hammer, and S. L. Hofmann. 2001. Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Proc. Natl. Acad. Sci. USA 98:13566–13571.
   PubMed Web of Science ®Google Scholar
• Gupta, P., A. A. Soyombo, J. M. Shelton, I. G. Wilkofsky, K. E. Wisniewski, J. A. Richardson, and S. L. Hofmann. 2003. Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features. Proc. Natl. Acad. Sci. USA 100:12325–12330.
   PubMedGoogle Scholar
• Irobi, J., P. Van den Bergh, L. Merlini, C. Verellen, L. Van Maldergem, I. Dierick, N. Verpoorten, A. Jordanova, C. Windpassinger, E. De Vriendt, V. Van Gerwen, M. Auer-Grumbach, K. Wagner, V. Timmerman, and P. De Jonghe. 2004. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain 127:2124–2130.
   PubMedGoogle Scholar
• Ivanov, S. V., J. M. Ward, L. Tessarollo, D. McAreavey, V. Sachdev, L. Fananapazir, M. K. Banks, N. Morris, D. Djurickovic, D. E. Devor-Henneman, M. H. Wei, G. W. Alvord, B. Gao, J. A. Richardson, J. D. Minna, M. A. Rogawski, and M. I. Lerman. 2004. Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene. Am. J. Pathol. 165:1007–1018.
   PubMed Web of Science ®Google Scholar
• Jasmin, L., G. Janni, T. M. Moallem, D. A. Lappi, and P. T. Ohara. 2000. Schwann cells are removed from the spinal cord after effecting recovery from paraplegia. J. Neurosci. 20:9215–9223.
   PubMedGoogle Scholar
• Kasper, D., R. Planells-Cases, J. C. Fuhrmann, O. Scheel, O. Zeitz, K. Ruether, A. Schmitt, M. Poet, R. Steinfeld, M. Schweizer, U. Kornak, and T. J. Jentsch. 2005. Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. EMBO J. 24:1079–1091.
   PubMed Web of Science ®Google Scholar
• Koike, M., H. Nakanishi, P. Saftig, J. Ezaki, K. Isahara, Y. Ohsawa, W. Schulz-Schaeffer, T. Watanabe, S. Waguri, S. Kametaka, M. Shibata, K. Yamamoto, E. Kominami, C. Peters, K. von Figura, and Y. Uchiyama. 2000. Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons. J. Neurosci. 20:6898–6906.
   PubMed Web of Science ®Google Scholar
• Lindstedt, L., M. Lee, K. Oorni, D. Bromme, and P. T. Kovanen. 2003. Cathepsins F and S block HDL3-induced cholesterol efflux from macrophage foam cells. Biochem. Biophys. Res. Commun. 312:1019–1024.
   PubMedGoogle Scholar
• Macedo-Souza, L. I., F. Kok, S. Santos, S. C. Amorim, A. Starling, A. Nishimura, K. Lezirovitz, A. M. Lino, and M. Zatz. 2005. Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. Ann. Neurol. 57:730–737.
   PubMedGoogle Scholar
• Malgaroli, A., and R. W. Tsien. 1992. Glutamate-induced long-term potentiation of the frequency of miniature synaptic currents in cultured hippocampal neurons. Nature 357:134–139.
   PubMed Web of Science ®Google Scholar
• Meara, J. P., and D. H. Rich. 1996. Mechanistic studies on the inactivation of papain by epoxysuccinyl inhibitors. J. Med. Chem. 39:3357–3366.
   PubMedGoogle Scholar
• Mitchison, H. M., M. J. Lim, and J. D. Cooper. 2004. Selectivity and types of cell death in the neuronal ceroid lipofuscinoses. Brain Pathol. 14:86–96.
   PubMed Web of Science ®Google Scholar
• Mitchison, H. M., and S. E. Mole. 2001. Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease). Curr. Opin. Neurol. 14:795–803.
   PubMedGoogle Scholar
• Mole, S. 2004. Neuronal ceroid lipofuscinoses (NCL). Eur. J. Paediatr Neurol. 8:101–103.
   PubMedGoogle Scholar
• Mole, S. E. 2004. The genetic spectrum of human neuronal ceroid-lipofuscinoses. Brain Pathol. 14:70–76.
   PubMed Web of Science ®Google Scholar
• Mole, S. E. 1996. Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses. J. Inherit. Metab. Dis. 19:269–274.
   PubMedGoogle Scholar
• Oorni, K., M. Sneck, D. Bromme, M. O. Pentikainen, K. A. Lindstedt, M. Mayranpaa, H. Aitio, and P. T. Kovanen. 2004. Cysteine protease cathepsin F is expressed in human atherosclerotic lesions, is secreted by cultured macrophages, and modifies low density lipoprotein particles in vitro. J. Biol. Chem. 279:34776–34784.
   PubMedGoogle Scholar
• Palmer, D. N., R. D. Jolly, H. C. van Mil, J. Tyynela, and V. J. Westlake. 1997. Different patterns of hydrophobic protein storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease). Neuropediatrics 28:45–48.
   PubMed Web of Science ®Google Scholar
• Palmer, J. T., D. Rasnick, J. L. Klaus, and D. Bromme. 1995. Vinyl sulfones as mechanism-based cysteine protease inhibitors. J. Med. Chem. 38:3193–3196.
   PubMed Web of Science ®Google Scholar
• Rawlings, N. D., and A. J. Barrett. 1999. Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis. Biochim. Biophys. Acta 1429:496–500.
   PubMedGoogle Scholar
• Rossmeisl, J. H., Jr., R. Duncan, J. Fox, E. S. Herring, and K. D. Inzana. 2003. Neuronal ceroid-lipofuscinosis in a Labrador retriever. J. Vet. Diagn. Investig. 15:457–460.
   PubMed Web of Science ®Google Scholar
• Santamaria, I., G. Velasco, A. M. Pendas, A. Paz, and C. Lopez-Otin. 1999. Molecular cloning and structural and functional characterization of human cathepsin F, a new cysteine proteinase of the papain family with a long propeptide domain. J. Biol. Chem. 274:13800–13809.
   PubMed Web of Science ®Google Scholar
• Selak, S., and M. J. Fritzler. 2004. Altered neurological function in mice immunized with early endosome antigen 1. BMC Neurosci. 5:2.
   PubMedGoogle Scholar
• Shi, G. P., R. A. Bryant, R. Riese, S. Verhelst, C. Driessen, Z. Li, D. Bromme, H. L. Ploegh, and H. A. Chapman. 2000. Role for cathepsin F in invariant chain processing and major histocompatibility complex class II peptide loading by macrophages. J. Exp. Med. 191:1177–1186.
   PubMed Web of Science ®Google Scholar
• Siso, S., C. Navarro, D. Hanzlicek, and M. Vandevelde. 2004. Adult onset thalamocerebellar degeneration in dogs associated to neuronal storage of ceroid lipopigment. Acta Neuropathol. 108:386–392.
   PubMedGoogle Scholar
• Tang, C. H., and E. A. Grimm. 2004. Depletion of endogenous nitric oxide enhances cisplatin-induced apoptosis in a p53-dependent manner in melanoma cell lines. J. Biol. Chem. 279:288–298.
   PubMedGoogle Scholar
• Terman, A., and U. T. Brunk. 2004. Lipofuscin. Int. J. Biochem. Cell. Biol. 36:1400–1404.
   PubMed Web of Science ®Google Scholar
• Turk, B., V. Turk, and D. Turk. 1997. Structural and functional aspects of papain-like cysteine proteinases and their protein inhibitors. Biol. Chem. 378:141–150.
   PubMed Web of Science ®Google Scholar
• Tyynela, J., J. D. Cooper, M. N. Khan, S. J. Shemilts, and M. Haltia. 2004. Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration, and glial activation. Brain Pathol. 14:349–357.
   PubMed Web of Science ®Google Scholar
• van Diggelen, O. P., S. Thobois, C. Tilikete, M. T. Zabot, J. L. Keulemans, P. A. van Bunderen, P. E. Taschner, M. Losekoot, and Y. V. Voznyi. 2001. Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. Ann. Neurol. 50:269–272.
   PubMed Web of Science ®Google Scholar
• Vellodi, A. 2005. Lysosomal storage disorders. Br. J. Haematol. 128:413–431.
   PubMed Web of Science ®Google Scholar
• Wang, B., G. P. Shi, P. M. Yao, Z. Li, H. A. Chapman, and D. Bromme. 1998. Human cathepsin F. Molecular cloning, functional expression, tissue localization, and enzymatic characterization. J. Biol. Chem. 273:32000–32008.
   PubMed Web of Science ®Google Scholar
• Windpassinger, C., K. Wagner, E. Petek, R. Fischer, and M. Auer-Grumbach. 2003. Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes. Hum. Genet. 114:99–109.
   PubMed Web of Science ®Google Scholar
• Yoshikawa, M., S. Uchida, J. Ezaki, T. Rai, A. Hayama, K. Kobayashi, Y. Kida, M. Noda, M. Koike, Y. Uchiyama, F. Marumo, E. Kominami, and S. Sasaki. 2002. CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis. Genes Cells 7:597–605.
   PubMedGoogle Scholar