Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase-Reference-Cited by-同舟云学术

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Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase

Published:2018-07 Issue:1 Volume:24 Page:27-37.e4
ISSN:2211-1247
Container-title:Cell Reports
language:en
Short-container-title:Cell Reports

Author:

Schlotawa Lars,Wachs Michaela,Bernhard Olaf,Mayer Franz J.,Dierks Thomas,Schmidt Bernhard,Radhakrishnan Karthikeyan

Funder

Deutsche Forschungsgemeinschaft

Bielefeld University

Publisher

Elsevier BV

Subject

General Biochemistry, Genetics and Molecular Biology

Reference35 articles.

1. Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene;Annunziata;Hum. Mutat.,2007

2. Steroid sulfatase. Biosynthesis and processing in normal and mutant fibroblasts;Conary;Eur. J. Biochem.,1986

3. The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases;Cosma;Cell,2003

4. The multi-domain structure of protein disulfide isomerase is essential for high catalytic efficiency;Darby;J. Mol. Biol.,1998

5. Conversion of cysteine to formylglycine: a protein modification in the endoplasmic reticulum;Dierks;Proc. Natl. Acad. Sci. USA,1997

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1. A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency;Molecular Genetics and Metabolism;2024-02

2. Biochemical signatures of disease severity in multiple sulfatase deficiency;Journal of Inherited Metabolic Disease;2023-11

3. A novel iPSC model reveals selective vulnerability of neurons in Multiple Sulfatase Deficiency;2023-10-03

4. Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency;EMBO Molecular Medicine;2023-02-15

5. New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency;Journal of Inherited Metabolic Disease;2022-12-11

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