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Article Addendum
Autophagy and Lysosomes in Pompe Disease
Tokiko Fukuda, Ashley Roberts, Meghan Ahearn, Kristien Zaal, Evelyn Ralston, Paul H. Plotz and Nina Raben
volume 2 | issue 4
October/November/December 2006Pages: 314 - 316
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In Pompe disease, a deficiency of lysosomal acid alpha-glucosidase, intralysosomal glycogen accumulates in multiple tissues, with skeletal and cardiac muscle most severely affected.1 Complete enzyme deficiency results in rapidly progressive infantile cardiomyopathy and skeletal muscle myopathy that is fatal within the first two years of life. Patients with partial enzyme deficiency suffer from skeletal muscle myopathy and experience shortened lifespan due to respiratory failure. The major advance has been the development of enzyme replacement therapy, which recently became available for Pompe patients. However, the effective clearance of skeletal muscle glycogen, as shown by both clinical and pre-clinical studies, has proven more difficult than anticipated.2-4 The work published in
Addendum to:
Dysfunction of Endocytic and Autophagic Pathways in a Lysosomal Storage Disease
Tokiko Fukuda, Lindsay Ewan, Martina Bauer, Robert J. Mattaliano, Kristien Zaal,
Evelyn Ralston, Paul H. Plotz and Nina Raben
Ann Neurol 2006; 59:700-8
We now provide open access to journal articles published online for one year or more. This article may be downloaded at the following link:
Download PDF If the document does not open, please right-click on the link (control-click on a Macintosh) and select the option to save the file to disk.