| The N221D variant in PCSK1 is highly prevalent in childhood obesity and can influence the metabolic profile. | The N221D variant in PCSK1 is highly prevalent in childhood obesity and can influence the metabolic profile.
Guijo B, Argente J, Martos-Moreno GÁ. | 11/30/2023 |
| Association of PCSK1 and PPARG1 Allelic Variants with Obesity and Metabolic Syndrome in Mexican Adults. | Association of PCSK1 and PPARG1 Allelic Variants with Obesity and Metabolic Syndrome in Mexican Adults.
Velazquez-Roman J, Angulo-Zamudio UA, Leon-Sicairos N, Flores-Villaseñor H, Benitez-Baez M, Espinoza-Salomón A, Karam-León A, Villamil-Ramírez H, Canizales-Quinteros S, Macías-Kauffer L, Monroy-Higuera J, Acosta-Smith E, Canizalez-Roman A., Free PMC Article | 10/6/2023 |
| Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants. | Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.
Shah BP, Sleiman PM, Mc Donald J, Moeller IH, Kleyn P. | 04/12/2023 |
| Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study. | Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study.
Folon L, Baron M, Toussaint B, Vaillant E, Boissel M, Scherrer V, Loiselle H, Leloire A, Badreddine A, Balkau B, Charpentier G, Franc S, Marre M, Aboulouard S, Salzet M, Canouil M, Derhourhi M, Froguel P, Bonnefond A. | 02/27/2023 |
| Rare Heterozygous <i>PCSK1</i> Variants in Human Obesity: The Contribution of the p.Y181H Variant and a Literature Review. | Rare Heterozygous PCSK1 Variants in Human Obesity: The Contribution of the p.Y181H Variant and a Literature Review.
Van Dijck E, Beckers S, Diels S, Huybrechts T, Verrijken A, Van Hoorenbeeck K, Verhulst S, Massa G, Van Gaal L, Van Hul W., Free PMC Article | 11/12/2022 |
| Novel Homozygous Inactivating Mutation in the PCSK1 Gene in an Infant with Congenital Malabsorptive Diarrhea. | Novel Homozygous Inactivating Mutation in the PCSK1 Gene in an Infant with Congenital Malabsorptive Diarrhea.
Aerts L, Terry NA, Sainath NN, Torres C, Martín MG, Ramos-Molina B, Creemers JW., Free PMC Article | 08/28/2021 |
| GLP-1 receptor signaling increases PCSK1 and beta cell features in human alpha cells. | GLP-1 receptor signaling increases PCSK1 and β cell features in human α cells.
Saikia M, Holter MM, Donahue LR, Lee IS, Zheng QC, Wise JL, Todero JE, Phuong DJ, Garibay D, Coch R, Sloop KW, Garcia-Ocana A, Danko CG, Cummings BP., Free PMC Article | 05/29/2021 |
| Revisiting Proinsulin Processing: Evidence That Human beta-Cells Process Proinsulin With Prohormone Convertase (PC) 1/3 but Not PC2. | Revisiting Proinsulin Processing: Evidence That Human β-Cells Process Proinsulin With Prohormone Convertase (PC) 1/3 but Not PC2.
Ramzy A, Asadi A, Kieffer TJ. | 01/2/2021 |
| PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus. | PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.
Khaled ML, Bykhovskaya Y, Gu C, Liu A, Drewry MD, Chen Z, Mysona BA, Parker E, McNabb RP, Yu H, Lu X, Wang J, Li X, Al-Muammar A, Rotter JI, Porter LF, Estes A, Watsky MA, Smith SB, Xu H, Abu-Amero KK, Kuo A, Shears SB, Rabinowitz YS, Liu Y., Free PMC Article | 11/21/2020 |
| increased obesity risk linked to N221D allele may be due in part to PC1/3-induced loss of resilience to stressors rather than strictly to decreased enzymatic activity on peptide precursors | Reduced Stability and pH-Dependent Activity of a Common Obesity-Linked PCSK1 Polymorphism, N221D.
Jarvela TS, Shakya M, Bachor T, White A, Low MJ, Lindberg I., Free PMC Article | 12/28/2019 |
| we found eight known variants and two novel heterozygous variants (c.1095 + 1G > A and p.S24C), and identified and functionally characterized two rare novel PCSK1 variants of which c.1095 + 1G > A caused complete loss of protein function. In addition to confirming rs6232 and rs6234 in PCSK1 as polygenic risk variants for childhood obesity, we describe an association of rs725522 with insulin metabolism. | Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism.
Löffler D, Behrendt S, Creemers JWM, Klammt J, Aust G, Stanik J, Kiess W, Kovacs P, Körner A., Free PMC Article | 11/10/2018 |
| investigation of the pathogenesis of obesity in the PC1/3-N222D mouse model and whether this molecular mechanism also applies to common and rare human PCSK1 mutations | Endoplasmic reticulum-associated degradation of the mouse PC1/3-N222D hypomorph and human PCSK1 mutations contributes to obesity.
Stijnen P, Brouwers B, Dirkx E, Ramos-Molina B, Van Lommel L, Schuit F, Thorrez L, Declercq J, Creemers JW. | 01/20/2018 |
| PCSK1 deficiency plays a role in human endocrinopathies, obesity, gastrointestinal disorders. | PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders.
Stijnen P, Ramos-Molina B, O'Rahilly S, Creemers JW. | 12/9/2017 |
| findings suggest that the major neuroendocrine features of Prader-Willi syndrome are due to PC1 deficiency | Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome.
Burnett LC, LeDuc CA, Sulsona CR, Paull D, Rausch R, Eddiry S, Carli JF, Morabito MV, Skowronski AA, Hubner G, Zimmer M, Wang L, Day R, Levy B, Fennoy I, Dubern B, Poitou C, Clement K, Butler MG, Rosenbaum M, Salles JP, Tauber M, Driscoll DJ, Egli D, Leibel RL., Free PMC Article | 09/9/2017 |
| PCSK1 mutations are associated with Obesity. | PCSK1 Variants and Human Obesity.
Ramos-Molina B, Martin MG, Lindberg I., Free PMC Article | 06/24/2017 |
| PCSK1 expression is significantly upregulated in human masticatory mucosa during wound healing | Human gingiva transcriptome during wound healing.
Wang Y, Tatakis DN. | 03/22/2017 |
| these common variants in PCSK1 and POMC were not the major cause of obesity in the Thai subjects sampled. However, variants in PCSK1 did affect cholesterol level, LDL-C level, and waist circumference. | Association between rs155971 in the PCSK1 gene and the lipid profile of obese Thai children: a family-based study.
Kulanuwat S, Santiprabhob J, Phonrat B, Limwongse C, Tungtrongchitr A, Chongviriyaphan N, Tungtrongchitr R. | 06/11/2016 |
| conclude that the N309K enzyme is able to cleave its own propeptide but is catalytically inert against in trans substrates, and that this variant accounts for the enteric and systemic endocrinopathies seen in the consanguineous kindred studied | A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.
Wilschanski M, Abbasi M, Blanco E, Lindberg I, Yourshaw M, Zangen D, Berger I, Shteyer E, Pappo O, Bar-Oz B, Martín MG, Elpeleg O., Free PMC Article | 03/26/2016 |
| we demonstrate evidence that common gene variation in PCSK1 contributes to BMI variation and susceptibility to common obesity in the largest known meta-analysis published to date in genetic epidemiology. | Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals.
Nead KT, Li A, Wehner MR, Neupane B, Gustafsson S, Butterworth A, Engert JC, Davis AD, Hegele RA, Miller R, den Hoed M, Khaw KT, Kilpeläinen TO, Wareham N, Edwards TL, Hallmans G, Varga TV, Kardia SL, Smith JA, Zhao W, Faul JD, Weir D, Mi J, Xi B, Quinteros SC, Cooper C, Sayer AA, Jameson K, Grøntved A, Fornage M, Sidney S, Hanis CL, Highland HM, Häring HU, Heni M, Lasky-Su J, Weiss ST, Gerhard GS, Still C, Melka MM, Pausova Z, Paus T, Grant SF, Hakonarson H, Price RA, Wang K, Scherag A, Hebebrand J, Hinney A, BioBank Japan, AGEN-BMI, GIANT Consortium, Franks PW, Frayling TM, McCarthy MI, Hirschhorn JN, Loos RJ, Ingelsson E, Gerstein HC, Yusuf S, Beyene J, Anand SS, Meyre D., Free PMC Article | 02/6/2016 |
| Data show that prohormone convertase 1/3 (PC1/3) endoplasmic reticulum-retained mutants induce endoplasmic reticulum stress. | Revisiting PC1/3 Mutants: Dominant-Negative Effect of Endoplasmic Reticulum-Retained Mutants.
Blanco EH, Ramos-Molina B, Lindberg I., Free PMC Article | 01/16/2016 |
| Mechanism of Fine-tuning pH Sensors in Proprotein Convertases: IDENTIFICATION OF A pH-SENSING HISTIDINE PAIR IN THE PROPEPTIDE OF PROPROTEIN CONVERTASE 1/3. | Mechanism of Fine-tuning pH Sensors in Proprotein Convertases: IDENTIFICATION OF A pH-SENSING HISTIDINE PAIR IN THE PROPEPTIDE OF PROPROTEIN CONVERTASE 1/3.
Williamson DM, Elferich J, Shinde U., Free PMC Article | 12/19/2015 |
| rs6232 associated with body mass index | Common variants in PCSK1 influence blood pressure and body mass index.
Gu Q, Yazdanpanah M, van Hoek M, Hofman A, Gao X, de Rooij FW, Sijbrands EJ. | 12/5/2015 |
| We showed for the first time that a nonsense mutation in PCSK1 was likely to cause dominantly inherited human obesity, due to the inhibiting properties of the propeptide fragment encoded by the null allele | A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity.
Philippe J, Stijnen P, Meyre D, De Graeve F, Thuillier D, Delplanque J, Gyapay G, Sand O, Creemers JW, Froguel P, Bonnefond A. | 11/7/2015 |
| Epistases between single nucleotide polymorphisms within proprotein convertase subtilisin/kexin type 1(PCSK1) and dopamine beta-hydroxylase(DBH) genes are significantly associated with susceptibility or resistance to premature ovarian failure | Epistasis between polymorphisms in PCSK1 and DBH is associated with premature ovarian failure.
Pyun JA, Kim S, Cha DH, Kwack K. | 06/20/2015 |
| FTO-rs9939609, TMEM18-rs6548238 and PCSK1-rs6234 polymorphisms are significantly associated with body mass index in a southern Chinese population. | Polymorphisms in FTO, TMEM18 and PCSK1 are associated with BMI in southern Chinese population.
Chen J, Yang M, Zhao K, Xu A, Huang Q. | 04/11/2015 |