PXD060270 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | Novel phenotypical and biochemical findings in mucolipidosis type II |
Description | Mucolipidosis type II (ML II) is a rare lysosomal storage disorder caused by deficiency of the UDP-GlcNAc:N-acetylglucosamine-1-phosphotransferase enzyme, which catalyzes the synthesis of the mannose-6-phosphate (M6P) targeting signal for lysosomal acid hydrolases. This deficiency hinders lysosomal enzyme trafficking, impairing cellular degradation processes. Owing to its low prevalence, information on this condition is limited. We characterized the clinical, biochemical, and proteomic profiles of three patients with ML II, each harboring pathogenic GNPTAB variants identified through whole-exome sequencing (WES). Biochemical profiling consisted of urinary glycosaminoglycan (GAG) quantification and enzyme activity analysis in dried blood spots (DBS). revealing significantly elevated levels of acid sphingomyelinase, α-iduronidase, iduronate-2-sulfatase, α-N-acetylglucosaminidase, and β-glucuronidase, and supporting its utility for early diagnosis both in neonates and in older patients. Proteomic data supported these findings, highlighting disrupted biochemical pathways, including dermatan sulfate and heparan sulfate degradation and cholesterol trafficking. In ML II it is now possible to detect the pathology with enzymatic tests for acid sphingomyelinase and α-iduronidase, (or another enzymes iduronate-2-sulfatase, α-N-acetylglucosaminidase, and β-glucuronidase) the values of these enzymes will always be very high. |
HostingRepository | PRIDE |
AnnounceDate | 2025-05-07 |
AnnouncementXML | Submission_2025-05-07_06:57:39.236.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Susana Bravo |
SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | No PTMs are included in the dataset |
Instrument | TripleTOF 6600 |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2025-01-27 23:59:12 | ID requested | |
⏵ 1 | 2025-05-07 06:57:40 | announced | |
Publication List
10.3390/ijms26062408; |
Monteagudo-Vilavedra E, Rodrigues D, Vella G, Bravo SB, Pena C, Lopez-Valverde L, Colon C, Sanchez-Pintos P, Otero Espinar FJ, Couce ML, Alvarez JV, Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II. Int J Mol Sci, 26(6):(2025) [pubmed] |
Keyword List
submitter keyword: Mucolipidosis II-III |
early findings |
biochemistry |
biomarkers |
proteomic studies |
lysosomal diseases. |
Contact List
Susana B Bravo |
contact affiliation | Instituto de Investigaciones Sanitarias de Santiago de Compostela |
contact email | sbbravo@gmail.com |
lab head | |
Susana Bravo |
contact affiliation | FIDIS |
contact email | sbbravo@gmail.com |
dataset submitter | |
Full Dataset Link List
Dataset FTP location
NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2025/05/PXD060270 |
PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD060270
- Label: PRIDE project
- Name: Novel phenotypical and biochemical findings in mucolipidosis type II