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Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms

Abstract:

Mucopolysaccharidoses (MPS) are the group of lysosomal storage disorders caused by deficiencies of enzymes involved in the stepwise degradation of glycosaminoglycans. To identify brain pathology common for neurological MPS, we conducted a comprehensive analysis of brain cortex tissues from post-mortem autopsy materials of eight patients affected with MPS I, II, IIIA, IIIC, and IIID, and age-matched controls. Frozen brain tissues were analyzed for the abundance of glycosaminoglycans (heparan, ...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.3390/jcm9020396

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Institution:
University of Oxford
Division:
MSD
Department:
Pharmacology
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Sub department:
Pharmacology
Role:
Author
ORCID:
0000-0001-7614-0403
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Name:
CIHR
Grant:
PJT-156345
More from this funder
Name:
Wellcome Trust
Grant:
202834/Z/16/Z
Publisher:
MDPI
Journal:
Journal of Clinical Medicine More from this journal
Volume:
9
Issue:
2
Article number:
396
Publication date:
2020-02-01
Acceptance date:
2020-01-27
DOI:
EISSN:
2077-0383
Language:
English
Keywords:
Pubs id:
1087144
Local pid:
pubs:1087144
Deposit date:
2020-02-14

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