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A splice-site variant in MADD affects hormone expression in pancreatic b-cells and pituitary gonadotropes

ABSTRACT: MADD is a multifunctional protein regulating activation and localization of small GTP-binding proteins RAB3 and RAB27, MAPK-signaling and cell survival. Polymorphisms in MADD locus have been associated with glycemic traits, but patients with bi-allelic variants in MADD manifest complex syndrome affecting nervous, endocrine, exocrine and hematological systems. We created relevant cell lines for AP-MS and BioID to examine the protein interactome of MADD to clarify how this mutation could leading the syndrome.

INSTRUMENT(S): Thermo Scientific Orbitrap Elite MS

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

SUBMITTER: Markku Varjosalo

PROVIDER: MSV000093584 | MassIVE | Wed Dec 06 04:21:00 GMT 2023

REPOSITORIES: MassIVE

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