scholarly journals PCSK1 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Pcsk1 Gene

Induction of ER stress by variants of the prohormone convertase 1 (PCSK1)-gene

2013 ◽  
Vol 8 (S 01) ◽  
Author(s):  
S Behrendt ◽  
D Löffler ◽  
R Tauscher ◽  
A Körner
Keyword(s):  
Er Stress ◽  
Prohormone Convertase ◽  
Prohormone Convertase 1 ◽  
Pcsk1 Gene

scholarly journals Reduced stability and pH-dependent activity of a common obesity-linked PCSK1 polymorphism, N221D

Endocrinology ◽  
2019 ◽  
Author(s):  
Timothy S Jarvela ◽  
Surbhi Gahlot ◽  
Manita Shakya ◽  
Tomas Bachor ◽  
Anne White ◽  
...  
Keyword(s):  
High Fat Diet ◽  
Obesity Risk ◽  
Wild Type ◽  
Prohormone Convertase 1 ◽  
Cell Clones ◽  
Increased Risk ◽  
Dependent Activity ◽  
Peptide Precursors ◽  
Pcsk1 Gene ◽  
Golgi Network

Abstract Common mutations in the human prohormone convertase 1/3 (PC1/3) gene (PCSK1) are linked to increased risk of obesity. Previous work has shown that the rs6232 SNP (N221D) results in slightly decreased activity, though whether this decrease underlies obesity risk is not clear. We observed significantly decreased activity of the N221D PC1/3 enzyme at the pH of the trans-Golgi network; at this pH, the mutant enzyme was less stable than wild-type enzyme. Recombinant N221D PC1/3 also showed enhanced susceptibility to heat stress. Enhanced susceptibility to tunicamycin-induced ER stress was observed in AtT-20/PC2 cell clones in which murine PC1/3 was replaced by human N221D PC1/3, as compared to wild-type human PC1/3. However, N221D PC1/3-expressing AtT-20/PC2 clones processed proopiomelanocortin to α-MSH similarly to wild-type PC1/3. We also generated a CRISPR-edited mouse line expressing the N221D mutation in the Pcsk1 gene. When homozygous N221D mice were fed either a standard or a high fat diet, we found no increase in body weight compared to their wild-type sibling controls. Sexual dimorphism was observed in pituitary ACTH for both genotypes, with females exhibiting lower levels of pituitary ACTH. In contrast, hypothalamic α−MSH content for both genotypes was higher in females compared to males. Hypothalamic CLIP content was higher in wild-type females compared to wild-type, but not N221D, males. Together, these data suggest that the increased obesity risk linked to the N221D allele in humans may be due in part to PC1/3-induced loss of resilience to stressors rather than strictly to decreased enzymatic activity on peptide precursors.

The polymorphisms of bovine PCSK1 gene and their associations with growth traits

2011 ◽  
Vol 33 (1) ◽  
pp. 57-63 ◽  
Author(s):  
Limin Shan ◽  
Jiajie Sun ◽  
Chunlei Zhang ◽  
Xingtang Fang ◽  
Chuzhao Lei ◽  
...  
Keyword(s):  
Growth Traits ◽  
Pcsk1 Gene

scholarly journals A novel mutation in the mouse Pcsk1 gene showing obesity and diabetes

2020 ◽  
Vol 31 (1-2) ◽  
pp. 17-29 ◽  
Author(s):  
Nor I. A. Muhsin ◽  
Liz Bentley ◽  
Ying Bai ◽  
Michelle Goldsworthy ◽  
Roger D. Cox
Keyword(s):  
Novel Mutation ◽  
Obesity And Diabetes ◽  
Pcsk1 Gene

scholarly journals A Novel Familial Mutation in the PCSK1 Gene That Alters the Oxyanion Hole Residue of Proprotein Convertase 1/3 and Impairs Its Enzymatic Activity

PLoS ONE ◽  
2014 ◽  
Vol 9 (10) ◽  
pp. e108878 ◽  
Author(s):  
Michael Wilschanski ◽  
Montaser Abbasi ◽  
Elias Blanco ◽  
Iris Lindberg ◽  
Michael Yourshaw ◽  
...  
Keyword(s):  
Enzymatic Activity ◽  
Proprotein Convertase ◽  
Oxyanion Hole ◽  
Pcsk1 Gene

scholarly journals Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk study

2009 ◽  
Vol 18 (18) ◽  
pp. 3496-3501 ◽  
Author(s):  
T. O. Kilpelainen ◽  
S. A. Bingham ◽  
K.-T. Khaw ◽  
N. J. Wareham ◽  
R. J.F. Loos
Keyword(s):  
Pcsk1 Gene

scholarly journals Association between rs155971 in the PCSK1 gene and the lipid profile of obese Thai children: a family-based study

2015 ◽  
Vol 14 (3) ◽  
pp. 9136-9144 ◽  
Author(s):  
S. Kulanuwat ◽  
J. Santiprabhob ◽  
B. Phonrat ◽  
C. Limwongse ◽  
A. Tungtrongchitr ◽  
...  
Keyword(s):  
Lipid Profile ◽  
Family Based ◽  
Pcsk1 Gene
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