Ceroid

M (increased incidences of clear cell foci, fatty change, and ceroid pigmentation)... 

M (ceroid pigmentation of the adrenal cortex minimal to mild)... 

Infantile neuronal ceroid lipofuscinosis (CLN1) Autosomal recessive Palmitooylprotein thioesterase... 

Late infantile neuronal ceroid lipofuscinosis (CLN2) Autosomal recessive Pepstatin-insensitive lysosomal peptidase... 

Infantile neuronal ceroid lipofuscinosis CNL1 Palmitoyl protein thioesterase Saposins... 

The neuronal ceroid lipofuscinoses (CLN), also referred to as Batten s disease, are a group of disorders characterized by the accumulation of autofluorescent lipopigments. Clinical hallmarks include blindness, seizures, cognitive and motor decline and early death. Age of onset varies from infancy to adulthood. Eight genetic forms have been identified [4]. Two involve lysosomal acid hydrolases. CLN1 codes for palmitoyl protein thioesterase 1. Clinically it presents most often in infancy and leads to loss of active movement and visual contact by 3 years of age. It is most common in Finland, where its incidence is 1 20,000. CLN2 codes for a lysosomal pepstatin-insensitive acid protease. 

Neuronal ceroid lipofuscinosis (CNL5) Danon s disease (LAMP-2 deficiency) Niemann-Pick disease C type 1 Cystinosis... 

AS-C achaete-scute gene complex for sense organs CLN neuronal ceroid lipofuscinoses... 

Ceroid Linti, Hansgeorg Schnockel, Werner Uhl and Nils Wiberg... 

Kakela R, Somerharju P, Tyynela J. 2003. Analysis of phospholipids molecular species in brains from patients with infantile and juvenile neuronal-ceroid lipofuscinosis using liquid chromatography-electrospray ionization mass spectrometry. J Neurochem 84 1051. 

Neurodegenerative disease The neuronal ceroid lipofuscinoses (Batten disease). 

Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Gupta, P., Soyombo, A.A., Atashband, A., Wisniewski, K.E., Shelton, J.M., Richardson, J.A., Hammer, R.E., Hofmann, S.L. (2001). Proc Natl Acad Sci, USA, 98... 

Neuronal ceroid lipofuscinoses and retinal photoreceptor degeneration wind, (65-67)... 

Ranta, S., Zhang, Y., Ross, B., Lonka, L., Takkunen, E., Messer, A., et al. (1999) The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet 23, 233-236. 

Griffey, M., Bible, E., Yogler, C., Levy, B., Gupta, P., Cooper, J. and Sands, M. S. (2004). Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis. Neurobiol. Dis. 16, 360-369. 

Haskell, R. E., Hughes, S. M., Chiorini, J. A., Alisky, J. M. and Davidson, B. L. (2003). Viral-mediated delivery of the late-infantile neuronal ceroid lipofuscinosis gene, TPP-I to the mouse central nervous system. Gene Ther. 10, 34-42. 

Junaid, M. A., Wu, G., and Pullarkat, R. K. (2000). Purification and characterization of bovine brain lysosomal pepstatin-insensitive proteinase, the gene product deficient in the human late-infantile neuronal ceroid lipofuscinosis. J. Neurochem., 74, 287-294. 

Rawlings, N. D., and Barrett, A. J. (1999). Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis. Biochim. Biophys. Acta, 1429, 496-500. 

Ezaki, J., Takeda-Ezaki, M., Oda, K., and Kominami, E. (2000). Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infatile neuronal ceroid lipofuscinosis. Biochem. Biophys. Res.Commun., 268, 904-908. 

Browning due to interaction of oxidised lipids and proteins occurs in vivo, the brown pigment deposited in tissues being termed lipofuscin or ceroid. The appearance of brown discoloration in the adipose tissues of, inter alia, pig, mink, and chicken, has been called the yellow fat disease . Ceroid accumulates slowly and has therefore been described as the age pigment . 

Terman A, Neuzil J, Kagedal K, et al. Decreased apoptotic response of inclusion-cell disease fibroblasts a consequence of lysosomal enzyme missorting Exp Cell Res 274 9-15,2002. Verkruyse LA, Natowicz MR, Hofmann SL Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease. Biochim Blophys Acta 1361 1-5,1997. von Figura K, Hasilik A Lysosomal enzymes mind their receptors. Anna Rev Biochem 55 167-193, 1986. 

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