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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Endothelin-1 in the brain of patients with galactosialidosis: its abnormal increase and distribution pattern.

Endothelin-1 is a peptidic substrate in vitro of lysosomal protective protein/cathepsin A (PPCA) with serine carboxypeptidase activity. Endothelin-1-specific immunoreactivity has been demonstrated to be markedly increased and distributed abnormally in the neurons and glial cells within autopsied brain regions, including the cerebellum, hippocampal formation, and spinal cord, of patients affected with galactosialidosis, a human PPCA deficiency. The genetic defect of the endothelin-1 degrading activity of PPCA is suggested to cause some of the neurological abnormalities of this disease.[1]

References

  1. Endothelin-1 in the brain of patients with galactosialidosis: its abnormal increase and distribution pattern. Itoh, K., Oyanagi, K., Takahashi, H., Sato, T., Hashizume, Y., Shimmoto, M., Sakuraba, H. Ann. Neurol. (2000) [Pubmed]
 
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