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Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.

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Kaul R.,Gao G.P.,Michals K.,Whelan D.T.,Levin S.,Matalon R.

Novel (Cys152 > Arg) missense mutation in an Arab patient with Canavan disease.

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Kaul R.,Gao G.P.,Matalon R.,Aloya M.,Su Q.,Jin M.,Johnson A.B.,Schutgens R.B.H.,Clarke J.T.R.

Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

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Kobayashi K.,Tsujino S.,Ezoe T.,Hamaguchi H.,Nihei K.,Sakuragawa N.

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

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Rady P.L.,Vargas T.,Tyring S.K.,Matalon R.,Langenbeck U.

Novel missense mutation (Y231C) in a Turkish patient with Canavan disease.

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Elpeleg O.N.,Shaag A.

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

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Sistermans E.A.,de Coo R.F.,van Beerendonk H.M.,Poll-The B.T.,Kleijer W.J.,van Oost B.A.

Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

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Zeng B.J.,Wang Z.H.,Ribeiro L.A.,Leone P.,De Gasperi R.,Kim S.J.,Raghavan S.,Ong E.,Pastores G.M.,Kolodny E.H.

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

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Olsen T.R.,Tranebjaerg L.,Kvittingen E.A.,Hagenfeldt L.,Moller C.,Nilssen O.

Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.

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Di Pietro V.,Cavallari U.,Amorini A.M.,Lazzarino G.,Longo S.,Poggiani C.,Cavalli P.,Tavazzi B.

New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.

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Mendes M.I.,Smith D.E.,Pop A.,Lennertz P.,Fernandez Ojeda M.R.,Kanhai W.A.,van Dooren S.J.,Anikster Y.,Baric I.,Boelen C.,Campistol J.,de Boer L.,Kariminejad A.,Kayserili H.,Roubertie A.,Verbruggen K.T.,Vianey-Saban C.,Williams M.,Salomons G.S.

Clinically distinct phenotypes of Canavan disease correlate with residual aspartoacylase enzyme activity.

Hum. Mutat.

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524-531

2017