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

A NEW CASE OF PCSK1 PATHOGENIC VARIANT WITH CONGENITAL PROPROTEIN CONVERTASE 1/3 DEFICIENCY AND LITERATURE REVIEW

(2018) Lucie Pépin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders

(2016) Pieter Stijnen et al.   ENDOCRINE REVIEWS

Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome

(2016) Lisa C. Burnett et al.   JOURNAL OF CLINICAL INVESTIGATION

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

(2016) Paul K. Potter et al.   Nature Communications

Revisiting PC1/3 Mutants: Dominant-Negative Effect of Endoplasmic Reticulum-Retained Mutants

(2015) Elias H. Blanco et al.   ENDOCRINOLOGY

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

(2015) K. T. Nead et al.   HUMAN MOLECULAR GENETICS

The Association of Common Variants in PCSK1 With Obesity: A HuGE Review and Meta-Analysis

(2014) Pieter Stijnen et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Defective Transport of the Obesity Mutant PC1/3 N222D Contributes to Loss of Function

(2014) Yogikala Prabhu et al.   ENDOCRINOLOGY

A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity

(2014) J Philippe et al.   INTERNATIONAL JOURNAL OF OBESITY

Genetics of the First Seven Proprotein Convertase Enzymes in Health and Disease

(2013) Hannu Turpeinen et al.   CURRENT GENOMICS

Disruption of Proprotein Convertase 1/3 (PC1/3) Expression in Mice Causes Innate Immune Defects and Uncontrolled Cytokine Secretion

(2012) Sarah Refaie et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Heterozygous Mutations Causing Partial Prohormone Convertase 1 Deficiency Contribute to Human Obesity

(2011) J. W. M. Creemers et al.   DIABETES

Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes

(2011) R. J. Strawbridge et al.   DIABETES

Association of obesity risk SNPs in PCSK1with insulin sensitivity and proinsulin conversion

(2010) Martin Heni et al.   BMC Medical Genetics

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Common nonsynonymous variants in PCSK1 confer risk of obesity

(2008) Michael Benzinou et al.   NATURE GENETICS