Articles with "galctwi twi" as a keyword



β-Galactosylceramidase Deficiency Causes Upregulation of Long Pentraxin-3 in the Central Nervous System of Krabbe Patients and Twitcher Mice

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23169436

Abstract: Globoid cell leukodystrophy (GLD), or Krabbe disease, is a neurodegenerative sphingolipidosis caused by genetic deficiency of lysosomal β-galactosylceramidase (GALC), characterized by neuroinflammation and demyelination of the central (CNS) and peripheral nervous system. The acute phase… read more here.

Keywords: patients twitcher; ptx3; krabbe patients; long pentraxin ... See more keywords