Canavan disease: Studies on the knockout mouse

Reuben Matalon, Kimberlee Michals-Matalon, Sankar Surendran, Stephen K. Tyring

Research output: Chapter in Book/Report/Conference proceedingConference contribution

6 Scopus citations

Abstract

Canavan disease (CD) is an autosomal recessive disorder, characterized by spongy degeneration of the brain. Patients with CD have aspartoacylase (ASPA) deficiency, which results accumulation of N-acetylaspartic acid (NAA) in the brain and elevated excretion of urinary NAA. Clinically, patients with CD have macrocephaly, mental retardation and hypotonia. A knockout mouse for CD which was engineered, also has ASPA deficiency and elevated NAA. Molecular studies of the mouse brain showed abnormal expression of multiple genes in addition to ASPA deficiency. Adenoassociated virus mediated gene transfer and stem cell therapy in the knockout mouse are the latest attempts to alter pathophysiology in the CD mouse.

Original languageEnglish (US)
Title of host publicationAdvances in Experimental Medicine and Biology
PublisherSpringer New York
Pages77-93
Number of pages17
Volume576
ISBN (Print)9780387301716
DOIs
StatePublished - 2006

Publication series

NameAdvances in Experimental Medicine and Biology
Volume576
ISSN (Print)00652598

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

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    Matalon, R., Michals-Matalon, K., Surendran, S., & Tyring, S. K. (2006). Canavan disease: Studies on the knockout mouse. In Advances in Experimental Medicine and Biology (Vol. 576, pp. 77-93). (Advances in Experimental Medicine and Biology; Vol. 576). Springer New York. https://doi.org/10.1007/0-387-30172-0_6