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Article

Deep next-generation proteomics and network analysis reveal systemic and tissue-specific patterns in Fabry disease.

Translational research : the journal of laboratory and clinical medicine - 1 Aug 2023

Tebani Abdellah, Barbey Frédéric, Dormond Olivier, Ducatez Franklin, Marret Stéphane, Nowak Albina, Bekri Soumeya

Abstract excerpt

Fabry disease (FD) is an X-linked lysosomal rare disease due to a deficiency of α-galactosidase A activity. The accumulation of glycosphingolipids mainly affects the kidney, heart, and central nervous system, considerably reducing life expectancy. Although the accumulation of undegraded substrate is considered the primary cause of FD, it is established that secondary dysfunctions at the cellular, tissue, and...

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Identifiers

PMID: 36863609
DOI: 10.1016/j.trsl.2023.02.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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