Gene Review:
SPG7 - spastic paraplegia 7 (pure and complicated...
Homo sapiens
Synonyms:
CAR, CMAR, PGN, Paraplegin, SPG5C, ...
- Genomic structure and expression analysis of the spastic paraplegia gene, SPG7. Settasatian, C., Whitmore, S.A., Crawford, J., Bilton, R.L., Cleton-Jansen, A.M., Sutherland, G.R., Callen, D.F. Hum. Genet. (1999)
- Investigation of mitochondrial function in hereditary spastic paraparesis. McDermott, C.J., Taylor, R.W., Hayes, C., Johnson, M., Bushby, K.M., Turnbull, D.M., Shaw, P.J. Neuroreport (2003)
- Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Casari, G., De Fusco, M., Ciarmatori, S., Zeviani, M., Mora, M., Fernandez, P., De Michele, G., Filla, A., Cocozza, S., Marconi, R., Dürr, A., Fontaine, B., Ballabio, A. Cell (1998)
- Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia. Pirozzi, M., Quattrini, A., Andolfi, G., Dina, G., Malaguti, M.C., Auricchio, A., Rugarli, E.I. J. Clin. Invest. (2006)
- Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. McDermott, C.J., Dayaratne, R.K., Tomkins, J., Lusher, M.E., Lindsey, J.C., Johnson, M.A., Casari, G., Turnbull, D.M., Bushby, K., Shaw, P.J. Neurology (2001)
- Structural basis for peptidoglycan binding by peptidoglycan recognition proteins. Guan, R., Roychowdhury, A., Ember, B., Kumar, S., Boons, G.J., Mariuzza, R.A. Proc. Natl. Acad. Sci. U.S.A. (2004)
- Toll-like receptor 2 and 4 (TLR2 and TLR4) agonists differentially regulate secretory interleukin-1 receptor antagonist gene expression in macrophages. Carl, V.S., Brown-Steinke, K., Nicklin, M.J., Smith, M.F. J. Biol. Chem. (2002)
- Mannose-binding lectin recognizes peptidoglycan via the N-acetyl glucosamine moiety, and inhibits ligand-induced proinflammatory effect and promotes chemokine production by macrophages. Nadesalingam, J., Dodds, A.W., Reid, K.B., Palaniyar, N. J. Immunol. (2005)
- Binding of bacterial peptidoglycan to CD14. Dziarski, R., Tapping, R.I., Tobias, P.S. J. Biol. Chem. (1998)
- A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Wilkinson, P.A., Crosby, A.H., Turner, C., Bradley, L.J., Ginsberg, L., Wood, N.W., Schapira, A.H., Warner, T.T. Brain (2004)
- Regulation of mitochondrial morphology through proteolytic cleavage of OPA1. Ishihara, N., Fujita, Y., Oka, T., Mihara, K. EMBO J. (2006)
- Variable and Tissue-Specific Subunit Composition of Mitochondrial m-AAA Protease Complexes Linked to Hereditary Spastic Paraplegia. Koppen, M., Metodiev, M.D., Casari, G., Rugarli, E.I., Langer, T. Mol. Cell. Biol. (2007)
- Chemical characteristics of Staphylococcus aureus molecules that have CD14-dependent cell-stimulating activity. Kusunoki, T., Wright, S.D. J. Immunol. (1996)
- Phagocytes Containing a Disease-Promoting Toll-Like Receptor/Nod Ligand Are Present in the Brain during Demyelinating Disease in Primates. Visser, L., Melief, M.J., van Riel, D., van Meurs, M., Sick, E.A., Inamura, S., Bajramovic, J.J., Amor, S., Hintzen, R.Q., Boven, L.A., 't Hart, B.A., Laman, J.D. Am. J. Pathol. (2006)
- Mammalian peptidoglycan recognition protein binds peptidoglycan with high affinity, is expressed in neutrophils, and inhibits bacterial growth. Liu, C., Gelius, E., Liu, G., Steiner, H., Dziarski, R. J. Biol. Chem. (2000)
- Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan. Bonen, D.K., Ogura, Y., Nicolae, D.L., Inohara, N., Saab, L., Tanabe, T., Chen, F.F., Foster, S.J., Duerr, R.H., Brant, S.R., Cho, J.H., Nuñez, G. Gastroenterology (2003)
- Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition. Tanabe, T., Chamaillard, M., Ogura, Y., Zhu, L., Qiu, S., Masumoto, J., Ghosh, P., Moran, A., Predergast, M.M., Tromp, G., Williams, C.J., Inohara, N., Núñez, G. EMBO J. (2004)
- Human peptidoglycan recognition protein-L is an N-acetylmuramoyl-L-alanine amidase. Wang, Z.M., Li, X., Cocklin, R.R., Wang, M., Wang, M., Fukase, K., Inamura, S., Kusumoto, S., Gupta, D., Dziarski, R. J. Biol. Chem. (2003)
- A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2. Lo Nigro, C., Cusano, R., Scaranari, M., Cinti, R., Forabosco, P., Morra, V.B., De Michele, G., Santoro, L., Davies, S., Hurst, J., Devoto, M., Ravazzolo, R., Seri, M. Eur. J. Hum. Genet. (2000)
- Recent advances in hereditary spastic paraplegia. Tallaksen, C.M., Dürr, A., Brice, A. Curr. Opin. Neurol. (2001)
- Identification and characterization of AFG3L2, a novel paraplegin-related gene. Banfi, S., Bassi, M.T., Andolfi, G., Marchitiello, A., Zanotta, S., Ballabio, A., Casari, G., Franco, B. Genomics (1999)
- Identification and characterization of YME1L1, a novel paraplegin-related gene. Coppola, M., Pizzigoni, A., Banfi, S., Bassi, M.T., Casari, G., Incerti, B. Genomics (2000)
- Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Elleuch, N., Depienne, C., Benomar, A., Hernandez, A.M., Ferrer, X., Fontaine, B., Grid, D., Tallaksen, C.M., Zemmouri, R., Stevanin, G., Durr, A., Brice, A. Neurology (2006)
- Modulation of connexin expression and gap junction communication in astrocytes by the gram-positive bacterium S. aureus. Esen, N., Shuffield, D., Syed, M.M., Kielian, T. Glia (2007)
- Incidence of latent mesangial IgA deposition in renal allograft donors in Japan. Suzuki, K., Honda, K., Tanabe, K., Toma, H., Nihei, H., Yamaguchi, Y. Kidney Int. (2003)