Relationship between enzyme properties and disease progression in Canavan disease (Q28272223)

2

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Radhika Malik

3

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Joshua Smith

4

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Ronald E Viola

Journal of Inherited Metabolic Disease

5

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language of work or name

English

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publication date

January 2013

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published in

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volume

36

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page(s)

1-6

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issue

1

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exact match

https://scigraph.springernature.com/pub.10.1007/s10545-012-9520-z

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cites work

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Molecular mechanism for the denaturation of proteins by urea

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SCHILDER'S ENCEPHALITIS PERIAXIALIS DIFFUSA

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Mutational analysis of aspartoacylase: implications for Canavan disease

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Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene

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Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution.

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Novel (cys152 > arg) missense mutation in an Arab patient with Canavan disease

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Characterization of human aspartoacylase: the brain enzyme responsible for Canavan disease

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Examination of the Mechanism of Human Brain Aspartoacylase through the Binding of an Intermediate Analogue † , ‡

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Urea, but not guanidinium, destabilizes proteins by forming hydrogen bonds to the peptide group.

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Canavan disease: biochemical and molecular studies

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Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with canavan disease

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Purification and preliminary characterization of brain aspartoacylase

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Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem

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Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.

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The clinical course of Canavan disease.

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Atypical MRI findings in Canavan disease: a patient with a mild course.

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Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease.

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The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients

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12 December 2020

The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients

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Purification of aspartase and aspartokinase-homoserine dehydrogenase I from Escherichia coli by dye-ligand chromatography

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Missense mutation (I143T) in a Japanese patient with Canavan disease

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Canavan disease: mutations among Jewish and non-Jewish patients

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Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease

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