A mutation in Site‐1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema-Reference-Cited by-同舟云学术

A mutation in Site‐1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema

Published:2019-05-08 Issue:7 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Schweitzer George G.¹,Gan Connie¹,Bucelli Robert C.²,Wegner Daniel³,Schmidt Robert E.⁴,Shinawi Marwan³⁵,Finck Brian N.¹,Brookheart Rita T.¹^ORCID

Affiliation:

1. John T. Milliken Department of Medicine, Division of Geriatrics and Nutritional Sciences Washington University School of Medicine St. Louis Missouri

2. Department of Neurology Washington University School of Medicine St. Louis Missouri

3. Edward Mallinckrodt Department of Pediatrics Washington University School of Medicine St. Louis Missouri

4. Department of Pathology and Immunology Washington University School of Medicine St. Louis Missouri

5. Division of Genetics and Genomic Medicine Washington University School of Medicine St. Louis Missouri

Funder

National Institute of Diabetes and Digestive and Kidney Diseases

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.733

Reference42 articles.

1. A method and server for predicting damaging missense mutations

2. Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

3. Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations inMBTPS2

4. Enhanced sensitivity to DSS colitis caused by a hypomorphic Mbtps1 mutation disrupting the ATF6-driven unfolded protein response

5. Induction of 3‐hydroxy‐3‐methylglutaryl coenzyme A reductase activity in human fibroblasts incubated with compactin (ML‐236B), a competitive inhibitor of the reductase;Brown M. S.;The Journal of Biological Chemistry,1978

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia;Diagnostics;2024-01-31

2. A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome;American Journal of Medical Genetics Part A;2023-12-22

3. Lysosomal enzyme trafficking: from molecular mechanisms to human diseases;Trends in Cell Biology;2023-07

4. Site-1 protease inhibits mitochondrial respiration by controlling the TGF-β target gene Mss51;Cell Reports;2023-04

5. Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type;Frontiers in Pediatrics;2023-02-03