MassIVE MSV000093584

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

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Description

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. [doi:10.25345/C54X54T1V] [dataset license: CC0 1.0 Universal (CC0 1.0)]

Keywords: MADD

Contact

Principal Investigators:
(in alphabetical order) 		Markku Varjosalo, University of Helsinki, Finland
Submitting User: XIOLIU
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Number of distinct biological replicates across all analyses (original submission and reanalyses) associated with this dataset.

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Originally identified proteins that were automatically remapped by MassIVE to proteins in the SwissProt human reference database.

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Distinct protein accessions are counted across all files submitted in the "Statistical Analysis of Quantified Analytes" category having a "Protein" column in this dataset.

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Number of distinct proteins found to be differentially abundant in at least one comparison across all analyses (original submission and reanalyses) associated with this dataset.

A protein is differentially abundant if its change in abundance across conditions is found to be statistically significant with an adjusted p-value <= 0.05 and lists no issues associated with statistical tests for differential abundance.

Distinct protein accessions are counted across all files submitted in the "Statistical Analysis of Quantified Analytes" category having a "Protein" column in this dataset.

"N/A" means no results of this type were submitted.
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