Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopa...
Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients
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Author / Creator
Bhalla, Akhil , Ravi, Ritesh , Fang, Meng , Arguello, Annie , Davis, Sonnet S , Chiu, Chi-Lu , Blumenfeld, Jessica R , Nguyen, Hoang N , Earr, Timothy K , Wang, Junhua , Astarita, Giuseppe , Zhu, Yuda , Fiore, Damian , Scearce-Levie, Kimberly , Diaz, Dolores , Cahan, Heather , Troyer, Matthew D , Harris, Jeffrey M and Escolar, Maria L
Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Mucopolysaccharidosis type II is a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS) and characterized by the accumulation of the primary storage substrate, glycosaminoglycans (GAGs). Understanding central nervous system (CNS) pathophysiology in neuronopathic MPS II (nMPS II) has been hindered by the lack of CNS bioma...
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Full title
Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7432645
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7432645
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ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms21155188
