Enzyme-based diagnosis of classical late infantile neuronal ceroid lipofuscinosis: comparison of tripeptidyl peptidase I and pepstatin-insensitive protease assays.
نویسندگان
چکیده
References 1. White AC, Thannickal VJ, Fanburg BL. Glutathione deficiency in human disease. J Nutr Biochem 1994;5:218–26. 2. Ubbink JB, Vermaak WJH, Bissbort S. Rapid high-performance liquid chromatographic assay for total homocysteine levels in human serum. J Chromatogr B 1991;565:441–6. 3. Araki A, Sako Y. Determination of free and total homocysteine in human plasma by high performance liquid chromatography with fluorescence detection. J Chromatogr Biomed Appl 1987;422:53–9. 4. Vester B, Rasmussen K. High performance liquid chromatography method for rapid and accurate determination of homocysteine in plasma and serum. J Clin Chem Clin Biochem 1991;29:549–54. 5. Oe T, Ohyagi T, Naganuma A. Determination of g-glutamylglutathione and other low-molecular mass biological thiol compounds by isocratic highperformance liquid chromatography with fluorimetric detection. J Chromatogr B 1998;708:285–9. 6. Imai K, Toyo’oka T, Watanabe Y. A novel fluorogenic reagent for thiols: ammonium 7-fluorobenzo-2-oxa-1,3-diazole-4-sulfonate. Anal Biochem 1983;128:471–3. 7. Lakritz J, Plopper CG, Buckpitt AR. Validated high-performance liquid chromatography-electrochemical method for determination of glutathione and glutathione disulfide in small tissue samples. Anal Biochem 1997;247: 63–8. 8. Stein AF, Dills RL, Klaassen CD. High performance liquid chromatographic analysis of glutathione and its thiol and disulfide degradation products. J Chromatogr B 1986;381:259–70. 9. Kleinman WA, Richie JP Jr. Determination of thiols and disulfides using high-performance liquid chromatography with electrochemical detection. J Chromatogr B 1995;672:73–80. 10. Luo JL, Hammarqvist F, Cotgreave IA, Lind C, Andersson K, Wernerman J. Determination of intracellular glutathione in human skeletal muscle by reversed-phase high-performance liquid chromatography. J Chromatogr B 1995;670:29–36. 11. Parmentier C, Leroy P, Wellman M, Nicolas A. Determination of cellular thiols and glutathione-related enzyme activities: versatility of high-performance liquid chromatography-spectrofluorimetric detection. J Chromatogr B Biomed Sci Appl 1998;719:37–46. 12. Anderson ME. Determination of glutathione and glutathione disulfide in biological samples. Methods Enzymol 1985;113:548–55. 13. Roberts JC, Francetic DJ. The importance of sample preparation and storage in glutathione analysis. Anal Biochem 1993;211:183–7.
منابع مشابه
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
Classical late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2 gene resulting in functional defects of the gene product tripeptidyl-peptidase I. This disease is associated with a progressive neurodegenerative course beginning at the age of two years with developmental stagnation, finally leading to a complete loss of motor function, vis...
متن کاملCrystal Structure and Autoactivation Pathway of the Precursor Form of Human Tripeptidyl-peptidase 1, the Enzyme Deficient in Late Infantile Ceroid Lipofuscinosis*S⃞
Late infantile neuronal ceroid lipofuscinosis is a fatal childhood neurological disorder caused by a deficiency in the lysosomal protease tripeptidyl-peptidase 1 (TPP1). TPP1 represents the only known mammalian member of the S53 family of serine proteases, a group characterized by a subtilisin-like fold, a Ser-Glu-Asp catalytic triad, and an acidic pH optimum. TPP1 is synthesized as an inactive...
متن کاملSTUDIES ON PALMITOYL-PROTEIN THIOESTERASE 1 Implications for synaptic functions
PDF created with FinePrint pdfFactory Pro trial version enzyme implicated in neurodegeneration, is localized in neurons and is developmentally regulated in rat brain. The expression of palmitoyl-protein thioesterase is developmentally regulated in neural tissues but not in nonneural tissues. changes in the expression of neuronal ceroid lipofuscinoses-linked proteins. Mol Genet Status epilepticu...
متن کاملSystemic Administration of Tripeptidyl Peptidase I in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis: Effect of Glycan Modification
Late-infantile neuronal ceroid lipofuscinosis (LINCL) is a recessive genetic disease of childhood caused by deficiencies in the lysosomal protease tripeptidyl peptidase I (TPP1). Disease is characterized by progressive and extensive neuronal death. One hurdle towards development of enzyme replacement therapy is delivery of TPP1 to the brain. In this study, we evaluated the effect of modifying N...
متن کاملLysosomal degradation of cholecystokinin-(29-33)-amide in mouse brain is dependent on tripeptidyl peptidase-I: implications for the degradation and storage of peptides in classical late-infantile neuronal ceroid lipofuscinosis.
Tripeptidyl peptidase-I (TPP-I) is a lysosomal exopeptidase which removes tripeptides from the N-terminus of small peptides. Mutations in the TPP-I gene result in a lethal neurodegenerative disease, classical late-infantile neuronal ceroid lipofuscinosis (CLN2). This disease is characterized by the accumulation of proteinaceous and autofluorescent material within the lysosomes of neurons, which...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Clinical chemistry
دوره 46 7 شماره
صفحات -
تاریخ انتشار 2000