UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference20 articles.
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4. An ER complex of ODR-4 and ODR-8/Ufm1 specific protease 2 promotes GPCR maturation by a Ufm1-independent mechanism;Chen;PLoS Genet.,2014
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1. UFMylation: a ubiquitin-like modification;Trends in Biochemical Sciences;2024-01
2. The UFM1 system: Working principles, cellular functions, and pathophysiology;Molecular Cell;2024-01
3. Familial Infantile spasm syndrome due to biallelic variants in the gene encoding UFM1-specific peptidase 2 (UFSP2);Medical Reports;2023-12
4. Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco;Bone Reports;2023-06
5. A guide to UFMylation, an emerging posttranslational modification;The FEBS Journal;2023-02-08
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