Thermodynamic characterisation of the mutated isoenzyme A of β-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant

Clinica Chimica Acta

Volumn 285, Issue 1-2, 1999, Pages 45-51

  Pérez, Luis F ^a   Ribeiro, Helena M ^b   Casal, J Antonio ^a   Pinto, Rui A ^b   Sá Miranda, M Clara ^b   Tutor, J Carlos ^a  

^a HOSPITAL GENERAL DE GALICIA   (Spain)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

Author keywords

Activation energy; GM2 gangliosidosis B1 variant; Mutated N acetylhexosaminidase A

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; ISOENZYME;

ARTICLE; CASE REPORT; ENERGY; FEMALE; GM2 GANGLIOSIDOSIS; HUMAN; MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; THERMODYNAMICS;

BETA-N-ACETYLHEXOSAMINIDASE; CHILD; CHROMATOGRAPHY, DEAE-CELLULOSE; FEMALE; GANGLIOSIDOSES; HOMOZYGOTE; HUMANS; ISOENZYMES; POINT MUTATION; THERMODYNAMICS;

EID: 0345211532     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(99)00086-8     Document Type: Article

References (14)

1. M2 gangliosidosis. In: Scriver CR, Beaudet Sly WS, editors, The metabolic and molecular bases of inherited disease, 7th ed, New York: McGraw-Hill, 1995, pp. 2839-79.
2. Neufeld E. Natural history and inherited disorders of a lysosomal enzyme, β-hexosaminidase. J Biol Chem 1989;264:10927-30.
3. Kytzia HJ, Hinrichs U, Maire I, Suzuki K, Sandhoff K. Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity. EMBO J 1983;2:1201-5.
4. Ribeiro MG, Pinto RA, Dos Santos MR, Maia M, Sá Miranda MC. Biochemical characterization of β-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant. J Inher Metab Dis 1991;14:715-20.
5. Maia M, Alves D, Ribeiro G, Pinto R, Sá Miranda MC. Juvenile GM2-gangliosidosis variant B1: Clinical and biochemical study in seven patients. Neuropediatrics 1990;21:18-23.
6. Pérez LF, Tutor JC. Assay of β-N-acetylhexosaminidase isoenzymes in different biological specimens by means of determination of their activation energies. Clin Chem 1998;44:226-31.
7. Dos Santos MR, Tanaka A, Sá Miranda MC, Ribeiro MG, Maia M, Suzuki K. GM2-gangliosidosis B1 variant: Analysis of β-hexosaminidase α gene mutations in 11 patients from a defined region in Portugal. Am J Hum Genet 1991;49:886-90.
8. Kytzia HJ, Sandhoff K. Evidence for two different active sites on human β-hexosaminidase A. J Biol Chem 1985;260:7568-72.
9. Ohno K, Suzuki K. Mutation in GM2-gangliosidosis B1 variant. J Neurochem 1988;50:316-8.
10. Suzuki K, Vanier MT. Biochemical and molecular aspects of the late-onset GM2-gangliosidosis: B1 variant as the prototype. Dev Neurosci 1991;13:288-94.
11. Proia RL, D'Azzo A, Neufeld EF. Association of alpha-and-beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts. J Biol Chem 1984;259:3350-4.
12. Zulhsdorf M, Imort M, Hasilik A, Von Figura K. Molecular forms of β-hexosaminidase and cathepsin D in serum and urine of healthy subjects and patients with elevated activity of lysosomal enzymes. Biochem J 1983;213:733-40.
13. Isaksson A, Hultberg B. Serum β-hexosaminidase isoenzymes are precursor forms. Scand J Clin Lab Invest 1995;55:433-40.
14. Pampols T, Codina J, Girós M, Sabater J, González-Sastre F. Tissue differences in the human N-acetyl-β-D-hexosaminidase isoenzymatic forms. Cell Molec Biol 1980;26:187-95.