Human LC-MS/MS for MBTPS1/S1P protein
Ontology highlight
ABSTRACT:
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
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| R1.msf | Msf | |||
| R1.raw | Raw | |||
| R2.msf | Msf | |||
| R2.raw | Raw | |||
| checksum.txt | Txt |
Items per page: 5 1 - 5 of 5 |
Publications
S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome.
Chen Fuying F Ni Cheng C Wang Xiaoxiao X Cheng Ruhong R Pan Chaolan C Wang Yumeng Y Liang Jianying J Zhang Jia J Cheng Jinke J Chin Y Eugene YE Zhou Yi Y Wang Zhen Z Guo Yiran Y Chen She S Htun Stephanie S Mathes Erin F EF de Alba Campomanes Alejandra G AG Slavotinek Anne M AM Zhang Si S Li Ming M Yao Zhirong Z
EMBO molecular medicine 20220401 5
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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