Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease.
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ABSTRACT:
SUBMITTER: Heon-Roberts R
PROVIDER: S-EPMC7074161 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Publications
Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease.
Heon-Roberts Rachel R Nguyen Annie L A ALA Pshezhetsky Alexey V AV
Journal of clinical medicine 20200127 2
The mucopolysaccharidoses (MPS) are a group of diseases caused by the lysosomal accumulation of glycosaminoglycans, due to genetic deficiencies of enzymes involved in their degradation. MPS III or Sanfilippo disease, in particular, is characterized by early-onset severe, progressive neurodegeneration but mild somatic involvement, with patients losing milestones and previously acquired skills as the disease progresses. Despite being the focus of extensive research over the past years, the links b ...[more]
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