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Proteomic study in Pompe disease

ABSTRACT: The raw data of SWATH proteomic analysis of plasma in Pompe disease patients and controls

INSTRUMENT(S): TripleTOF 5600

ORGANISM(S): Homo Sapiens (ncbitaxon:9606)

SUBMITTER: Anna Sidorina

PROVIDER: MSV000086114 | MassIVE |

REPOSITORIES: MassIVE

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Publications

Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.

Sidorina Anna A Catesini Giulio G Levi Mortera Stefano S Marzano Valeria V Putignani Lorenza L Boenzi Sara S Taurisano Roberta R Garibaldi Matteo M Deodato Federica F Dionisi-Vici Carlo C

Journal of inherited metabolic disease 20201228 3

Pompe disease (PD) is caused by deficiency of the enzyme acid α-glucosidase resulting in glycogen accumulation in lysosomes. Clinical symptoms include skeletal myopathy, respiratory failure, and cardiac hypertrophy. We studied plasma proteomic and lipidomic profiles in 12 PD patients compared to age-matched controls. The proteomic profiles were analyzed by nLC-MS/MS SWATH method. Wide-targeted lipidomic analysis was performed by LC-IMS/MS, allowing to quantify >1100 lipid species, spanning 13 cl ...[more]

PMID: 33325062

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