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PXD060270

PXD060270 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleNovel phenotypical and biochemical findings in mucolipidosis type II
DescriptionMucolipidosis 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.
HostingRepositoryPRIDE
AnnounceDate2025-05-07
AnnouncementXMLSubmission_2025-05-07_06:57:39.236.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterSusana Bravo
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListNo PTMs are included in the dataset
InstrumentTripleTOF 6600
Dataset History
RevisionDatetimeStatusChangeLog Entry
02025-01-27 23:59:12ID requested
12025-05-07 06:57:40announced
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 affiliationInstituto de Investigaciones Sanitarias de Santiago de Compostela
contact emailsbbravo@gmail.com
lab head
Susana Bravo
contact affiliationFIDIS
contact emailsbbravo@gmail.com
dataset submitter
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Dataset FTP location
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PRIDE project URI
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