Progressive neurodegeneration in aspartylglycosaminuria mice

American Journal of Pathology

Volumn 153, Issue 4, 1998, Pages 1293-1300

  Gonzalez Gomez, Ignacio ^a   Mononen, Ilkka ^b   Heisterkamp, Nora ^a   Groffen, John ^a   Kaartinen, Vesa ^a,c  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b KUOPIO UNIVERSITY HOSPITAL   (Finland)

^c CHILDREN S HOSPITAL LOS ANGELES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

N4 (BETA N ACETYLGLUCOSAMINYL)ASPARAGINASE;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; ASPARTYLGLYCOSAMINURIA; ATAXIA; CELL VACUOLE; CELLULAR DISTRIBUTION; EMBRYO TRANSFER; GENE TARGETING; HISTOPATHOLOGY; HYDRONEPHROSIS; LYSOSOME STORAGE DISEASE; MOUSE; NERVE DEGENERATION; NEWBORN; NONHUMAN; PRIORITY JOURNAL;

EID: 0031683552     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)65674-X     Document Type: Article

References (12)

1. Thomas GH, Beaudet AL: Disorders of glycoprotein degradation and structure: α-mannosidosis, sialidosis, aspartylglucosaminuria, and carbohydrate-deficient glycoprotein syndrome. The Metabolic and Molecular Bases of Inherited Disease. Edited by CR Scriver, AL Beaudet, WS Sly, D Valle. New York, McGraw-Hill, 1995, pp 2545-2548
2. Mononen I, Fisher KJ, Kaartinen V, Aronson NN Jr: Aspartylglycosaminuna: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation. FASEB J 1993, 7:1247-1256
3. Aronson NN Jr: Molecular biology of glycosylasparaginase. Lysosomal Storage Disease: Aspartylglycosaminuria. Edited by I Mononen, NN Aronson Jr. Austin, TX, R, G Landes Co./Heidelberg, Springer-Verlag, 1997, pp 119-136
4. Ikonen E, Julkunen I, Tollersrud O-K, Kalkkinen N, Peltonen L: Lysosomal aspartylglucosaminidase is processed to the active subunit complex in the endoplasmic reticulum. EMBO J 1993, 12:295-302.
5. Guan C, Cui T, Rao V Liao W, Benner J, Lin CL, Comb D: Activation of glycosylasparaginase: formation of active N-terminal threonine by intramolecular autoproteolysis. J Biol Chem 1996, 271:1732-1737
6. Aronson NN Jr: Asparagine-linked glycoproteins and their degradation. Lysosomal Storage Disease: Aspartylglycosaminuria. Edited by I Mononen, NN Aronson Jr. Austin, TX, R. G. Landes Co./Heidelberg, Springer-Verlag, 1997, pp 55-75
7. Mononen T, Mononen I: Biochemistry and biochemical diagrams of aspartylglycosaminuria. Edited by I Mononen, NN Aronson Jr. Austin, TX, R. G. Landes Co./Heidelberg, Springer-Verlag, 1997, pp 41-49
8. Arstila AU, Palo J, Haltia, Riekkinen P, Autio S: Aspartylglucosaminuria. I. Fine structural studies of liver, kidney and brain. Acta Neuropathol 1972, 20:207-216
9. Haltia M, Palo J, Autio S: Aspartylglucosaminuria: a generalized storage disease. Acta Neuropathol 1975, 31:243-255
10. Arvio M, Autio S, Mononen T: Clinical manifestations of aspartylglycosaminuria. Lysosomal Storage Disease: Aspartylglycosaminuria. Edited by I Mononen, NN Aronson Jr. Austin, TX, R. G. Landes Co./Heidelberg, Springer-Verlag, 1997, pp 55-75.
11. Kaartinen V, Mononen I, Voncken J-W, Gonzalez-Gomez I, Heisterkamp N, Groffen J: A mouse model for aspartylglycosaminuria. Nat Med 1996, 2:1375-1378.
12. Aida A, Kano M, Chen C, Stanton ME, Fox GD, Herrup K, Zwingman TA, Tonegawa S: Deficient cerebellar long-term depression and impaired motor learning in mGluR1 mutant mice. Cell 1994, 79:377-388