HMGCR c.266A>G ;(p.K89R)

Variant ID: 5-74639778-A-G

NM_000859.2(HMGCR):c.266A>G;(p.K89R)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Synthesis, function, and regulation of sterol and nonsterol isoprenoids.

Frontiers In Molecular Biosciences
Faulkner, Rebecca R; Jo, Youngah Y
Publication Date: 2022

Variant appearance in text: HMGCR: K89R
PubMed Link: 36275615
Variant Present in the following documents:
  • Main text
  • fmolb-09-1006822.pdf
View BVdb publication page



Post-translational control of the long and winding road to cholesterol.

The Journal Of Biological Chemistry
Sharpe, Laura J LJ; Coates, Hudson W HW; Brown, Andrew J AJ
Publication Date: 2020-12-18

Variant appearance in text: HMGCR: K89R
PubMed Link: 33453997
Variant Present in the following documents:
  • Main text
View BVdb publication page



Enhanced ER-associated degradation of HMG CoA reductase causes embryonic lethality associated with Ubiad1 deficiency.

Elife
Jo, Youngah Y; Kim, Steven S SS; Garland, Kristina K; Fuentes, Iris I; DiCarlo, Lisa M LM; Ellis, Jessie L JL; Fu, Xueyan X; Booth, Sarah L SL; Evers, Bret M BM; DeBose-Boyd, Russell A RA
Publication Date: 2020-03-02

Variant appearance in text: HMGCR: K89R
PubMed Link: 32118581
Variant Present in the following documents:
  • Main text
  • elife-54841.pdf
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Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase.

Plos Genetics
Jiang, Shi-You SY; Tang, Jing-Jie JJ; Xiao, Xu X; Qi, Wei W; Wu, Suqian S; Jiang, Chao C; Hong, Jiaxu J; Xu, Jianjiang J; Song, Bao-Liang BL; Luo, Jie J
Publication Date: 2019-07

Variant appearance in text: HMGCR: K89R
PubMed Link: 31323021
Variant Present in the following documents:
  • Main text
  • pgen.1008289.pdf
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Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice.

Elife
Jo, Youngah Y; Hamilton, Jason S JS; Hwang, Seonghwan S; Garland, Kristina K; Smith, Gennipher A GA; Su, Shan S; Fuentes, Iris I; Neelam, Sudha S; Thompson, Bonne M BM; McDonald, Jeffrey G JG; DeBose-Boyd, Russell A RA
Publication Date: 2019-02-20

Variant appearance in text: HMGCR: K89R
PubMed Link: 30785396
Variant Present in the following documents:
  • Main text
  • elife-44396.pdf
View BVdb publication page



Discovery of a potent HMG-CoA reductase degrader that eliminates statin-induced reductase accumulation and lowers cholesterol.

Nature Communications
Jiang, Shi-You SY; Li, Hui H; Tang, Jing-Jie JJ; Wang, Jie J; Luo, Jie J; Liu, Bing B; Wang, Jin-Kai JK; Shi, Xiong-Jie XJ; Cui, Hai-Wei HW; Tang, Jie J; Yang, Fan F; Qi, Wei W; Qiu, Wen-Wei WW; Song, Bao-Liang BL
Publication Date: 2018-12-03

Variant appearance in text: HMGCR: K89R
PubMed Link: 30510211
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_7590.pdf
View BVdb publication page



Underlying mechanisms for sterol-induced ubiquitination and ER-associated degradation of HMG CoA reductase.

Seminars In Cell & Developmental Biology
Johnson, Brittany M BM; DeBose-Boyd, Russell A RA
Publication Date: 2018-09

Variant appearance in text: HMGCR: K89R
PubMed Link: 29107682
Variant Present in the following documents:
  • Main text
View BVdb publication page