Relationship between enzyme properties and disease progression in Canavan disease
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[1] Xuefan Gu,et al. Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease , 2010, Brain and Development.
[2] A. Bahsas,et al. Molecular mechanism for the denaturation of proteins by urea. , 2009, Biochemistry.
[3] S. Englander,et al. Urea, but not guanidinium, destabilizes proteins by forming hydrogen bonds to the peptide group , 2009, Proceedings of the National Academy of Sciences.
[4] R. Sanishvili,et al. Examination of the mechanism of human brain aspartoacylase through the binding of an intermediate analogue. , 2008, Biochemistry.
[5] N. Pattabiraman,et al. Mutational analysis of aspartoacylase: Implications for Canavan Disease , 2007, Brain Research.
[6] R. Viola,et al. Characterization of Human Aspartoacylase: the brain enzyme responsible for Canavan disease , 2006, Biochemistry.
[7] D. Shera,et al. Mild‐onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene , 2006, Annals of neurology.
[8] C. Yalçınkaya,et al. Atypical MRI findings in Canavan disease: a patient with a mild course. , 2005, Neuropediatrics.
[9] D. Zafeiriou,et al. Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease. , 2005, Neuropediatrics.
[10] J. Pearce. Canavan’s disease , 2004, Journal of Neurology, Neurosurgery & Psychiatry.
[11] F. Bamforth,et al. Mild Elevation of N-Acetylaspartic Acid and Macrocephaly: Diagnostic Problem , 2003, Journal of child neurology.
[12] Roger A. Moore,et al. Purification and preliminary characterization of brain aspartoacylase. , 2003, Archives of biochemistry and biophysics.
[13] R. De Gasperi,et al. Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease , 2002, Journal of Inherited Metabolic Disease.
[14] A. Shaag,et al. The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients , 1999, Journal of Inherited Metabolic Disease.
[15] I. Rapin,et al. The clinical course of Canavan disease. , 1998, Pediatric neurology.
[16] Y. Anikster,et al. The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients. , 1995, American journal of human genetics.
[17] R. Kaul,et al. Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution. , 1994, Genomics.
[18] R. Kaul,et al. Canavan disease: Biochemical and molecular studies , 1993, Journal of Inherited Metabolic Disease.
[19] R. Matalon,et al. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. , 1988, American journal of medical genetics.
[20] J. Zachary,et al. Spongy Degeneration of the Central Nervous System in Two Canine Littermates , 1985, Veterinary pathology.
[21] R. Viola,et al. Purification of aspartase and aspartokinase-homoserine dehydrogenase I from Escherichia coli by dye-ligand chromatography. , 1985, Analytical biochemistry.
[22] M. J. Maisels,et al. Spongy degeneration of the central nervous system (Van Bogaert-Bertrand type?) in a newborn infant , 1977, Acta Neuropathologica.
[23] M. Adachi,et al. Spongy degeneration of the central nervous system (van Bogaert and Bertrand type; Canavan's disease). A review. , 1973, Human pathology.
[24] A. Fantiš,et al. [Schilder's encephalitis periaxialis diffusa]. , 1950, Casopis lekaru ceskych.
[25] M. M. Canavan. SCHILDER'S ENCEPHALITIS PERIAXIALIS DIFFUSA: REPORT OF A CASE IN A CHILD AGED SIXTEEN AND ONE-HALF MONTHS , 1931 .
[26] J. Globus,et al. PROGRESSIVE DEGENERATIVE SUBCORTICAL ENCEPHALOPATHY: (SCHILDER'S DISEASE) , 1928 .
[27] S. Tsujino,et al. Missense mutation (I143T) in a Japanese patient with Canavan disease , 1998, Human mutation.
[28] R. Kaul,et al. Novel (cys152>arg) missense mutation in an Arab patient with Canavan disease , 1995, Human mutation.
[29] R. Kaul,et al. Canavan disease: mutations among Jewish and non-Jewish patients. , 1994, American journal of human genetics.