Proteomics

Dataset Information

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Human LC-MS/MS for MBTPS1/S1P protein


ABSTRACT: To explore the molecular mechanism underlying the inflammatory symptoms, we set out to screen S1P interactors using Co-IP and liquid chromatography-tandem mass spectrometry (LC-MS/MS) and identified 29 potential candidates

INSTRUMENT(S): TripleTOF 5600

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Cell Culture

SUBMITTER: Fuying Chen  

LAB HEAD: Zhirong Yao

PROVIDER: PXD031064 | Pride | 2022-05-04

REPOSITORIES: Pride

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Publications


In this report, we discovered a new entity named cataract, alopecia, oral mucosal disorder, and psoriasis-like (CAOP) syndrome in two unrelated and ethnically diverse patients. Furthermore, patient 1 failed to respond to regular treatment. We found that CAOP syndrome was caused by an autosomal recessive defect in the mitochondrial membrane-bound transcription factor peptidase/site-1 protease (MBTPS1, S1P). Mitochondrial abnormalities were observed in patient 1 with CAOP syndrome. Furthermore, we  ...[more]

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