Literature DB >> 7528829

Canavan disease: molecular basis of aspartoacylase deficiency.

R Kaul1, G P Gao, K Balamurugan, R Matalon.   

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Year:  1994        PMID： 7528829     DOI： 10.1007/bf00711811

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  6 in total

1.  Prenatal diagnosis of Canavan disease.

Authors:  R Matalon; K Michals; P Gashkoff; R Kaul
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.

Authors:  R Matalon; K Michals; D Sebesta; M Deanching; P Gashkoff; J Casanova
Journal:  Am J Med Genet       Date:  1988-02

3.  SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease.

Authors:  R Matalon; R Kaul; J Casanova; K Michals; A Johnson; I Rapin; P Gashkoff; M Deanching
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

4.  Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.

Authors:  R Kaul; G P Gao; K Balamurugan; R Matalon
Journal:  Nat Genet       Date:  1993-10       Impact factor: 38.330

5.  Purification, characterization, and localization of aspartoacylase from bovine brain.

Authors:  R Kaul; J Casanova; A B Johnson; P Tang; R Matalon
Journal:  J Neurochem       Date:  1991-01       Impact factor: 5.372

Review 6.  Canavan disease: biochemical and molecular studies.

Authors:  R Matalon; R Kaul; K Michals
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  6 in total
  2 in total

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

Authors:  B J Zeng; Z H Wang; L A Ribeiro; P Leone; R De Gasperi; S J Kim; S Raghavan; E Ong; G M Pastores; E H Kolodny
Journal:  J Inherit Metab Dis       Date:  2002-11       Impact factor: 4.982

2.  N-acetylaspartate catabolism determines cytosolic acetyl-CoA levels and histone acetylation in brown adipocytes.

Authors:  A Prokesch; H J Pelzmann; A R Pessentheiner; K Huber; C T Madreiter-Sokolowski; A Drougard; M Schittmayer; D Kolb; C Magnes; G Trausinger; W F Graier; R Birner-Gruenberger; J A Pospisilik; J G Bogner-Strauss
Journal:  Sci Rep       Date:  2016-04-05       Impact factor: 4.379
  2 in total

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