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Disease on EC 3.4.21.93 - Proprotein convertase 1

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adrenal Insufficiency
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
Carcinogenesis
Targeted production of proprotein convertase PC1 enhances mammary development and tumorigenesis in transgenic mice.
Carcinoid Tumor
Expression in human lung tumor cells of the proprotein processing enzyme PC1/PC3. Cloning and primary sequence of a 5 kb cDNA.
Coronary Artery Disease
Genetic variants in PCSK1 gene are associated with the risk of coronary artery disease in type 2 diabetes in a Chinese Han population: a case control study.
Cushing Syndrome
Treatment-related neuroendocrine prostate cancer resulting in Cushing's syndrome.
Diabetes Insipidus
Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus.
Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.
Diabetes Insipidus, Neurogenic
Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.
Diabetes Mellitus
Association of type 2 diabetes susceptibility genes (TCF7L2, SLC30A8, PCSK1 and PCSK2) and proinsulin conversion in a Chinese population.
Diabetes Mellitus, Type 2
Association of genetic variants of the incretin-related genes with quantitative traits and occurrence of type 2 diabetes in Japanese.
Association of obesity susceptibility gene variants with metabolic syndrome and related traits in 1,443 czech adolescents.
Association of type 2 diabetes susceptibility genes (TCF7L2, SLC30A8, PCSK1 and PCSK2) and proinsulin conversion in a Chinese population.
Effects of PCSK1 genetic variants on obesity among Thai children and their family members: in relation to health risk, and biochemical and anthropometric parameters.
Enteroendocrine K and L cells in healthy and type 2 diabetic individuals.
Genetic variants in PCSK1 gene are associated with the risk of coronary artery disease in type 2 diabetes in a Chinese Han population: a case control study.
Human prohormone convertase 3 gene: exon-intron organization and molecular scanning for mutations in Japanese subjects with NIDDM.
Long-term elevation of free fatty acids leads to delayed processing of proinsulin and prohormone convertases 2 and 3 in the pancreatic beta-cell line MIN6.
The Ominous Trio of PCSK1, CHD7, and PAX4: Normosmic Hypogonadotropic Hypogonadism with Maturity-Onset Diabetes in a Young Man.
Essential Hypertension
The obesity-related polymorphism PCSK1 rs6235 is associated with essential hypertension in the Han Chinese population.
Gastrointestinal Diseases
PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders.
Genetic Diseases, Inborn
Hyperphagia and Obesity in Prader?Willi Syndrome: PCSK1 Deficiency and Beyond?
Glucose Intolerance
A common variant upstream of the PAX6 gene influences islet function in man.
Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism.
Hyperglycemia
Cellular responses of novel human pancreatic ?-cell line, 1.1B4 to hyperglycemia.
Hypertension
Common PCSK1 Haplotypes Are Associated With Obesity in the Chinese Population.
Common variants in PCSK1 influence blood pressure and body mass index.
The obesity-related polymorphism PCSK1 rs6235 is associated with essential hypertension in the Han Chinese population.
Hypoglycemia
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
Hypogonadism
PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders.
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
The Ominous Trio of PCSK1, CHD7, and PAX4: Normosmic Hypogonadotropic Hypogonadism with Maturity-Onset Diabetes in a Young Man.
Infections
Association of adenovirus 36 infection with obesity-related gene variants in adolescents.
Insulin Resistance
Association of genetic variants of the incretin-related genes with quantitative traits and occurrence of type 2 diabetes in Japanese.
Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion.
Common PCSK1 Haplotypes Are Associated With Obesity in the Chinese Population.
Several obesity- and nutrient-related gene polymorphisms but not FTO and UCP variants modulate postabsorptive resting energy expenditure and fat-induced thermogenesis in obese individuals: the NUGENOB Study.
Keratoconus
PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.
kexin deficiency
A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review.
A novel mutation of PCSK1 responsible for PC1/3 deficiency in two siblings.
Case Report: Complete Maternal Uniparental Isodisomy of Chromosome 5 (iUPD(5)mat) With PCSK1 Nonsense Variant in an Infant With Recurrent Diarrhea.
Early Clinical Diagnosis of PC1/3 Deficiency in a Patient With a Novel Homozygous PCSK1 Splice-Site Mutation.
Malnutrition
Perinatal food deprivation induces marked alterations of the hypothalamo-pituitary-adrenal axis in 8-month-old male rats both under basal conditions and after a dehydration period.
Metabolic Syndrome
Association of obesity susceptibility gene variants with metabolic syndrome and related traits in 1,443 czech adolescents.
Nasal Polyps
Overexpressed PC1/3 induces an epithelial-mesenchymal transition in airway epithelium.
Neoplasms
Alterations in gene expression of proprotein convertases in human lung cancer have a limited number of scenarios.
Expression in human lung tumor cells of the proprotein processing enzyme PC1/PC3. Cloning and primary sequence of a 5 kb cDNA.
Genetic variation may modify ovarian reserve in female childhood cancer survivors.
PCSK1 Overexpression in Rectal Cancer Correlates with Poor Response to Preoperative Chemoradiotherapy and Prognosis.
Primary hepatic carcinoid and neuroendocrine carcinoma: clinicopathological and immunohistochemical study of five cases.
Rat Chromosome 2: assignment of the genes encoding cyclin B1, interleukin 6 signal transducer, and proprotein convertase 1 to the Mcs1-containing region and identification of new microsatellite markers.
Treatment-related neuroendocrine prostate cancer resulting in Cushing's syndrome.
Obesity
A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity.
A novel mutation in the mouse Pcsk1 gene showing obesity and diabetes.
Allelic clustering and ancestry-dependent frequencies of rs6232, rs6234, and rs6235 PCSK1 SNPs in a Northern Ontario population sample.
Association between rs155971 in the PCSK1 gene and the lipid profile of obese Thai children: a family-based study.
Association of adenovirus 36 infection with obesity-related gene variants in adolescents.
Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion.
Association of obesity susceptibility gene variants with metabolic syndrome and related traits in 1,443 czech adolescents.
Association of PCSK1 rs6234 with obesity and related traits in a Chinese Han population.
Association of the rs6235 variant in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene with obesity and related traits in a Taiwanese population.
Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk study.
Common nonsynonymous variants in PCSK1 confer risk of obesity.
Common PCSK1 Haplotypes Are Associated With Obesity in the Chinese Population.
Common Variants in FTO, MC4R, TMEM18, PRL, AIF1, and PCSK1 Show Evidence of Association With Adult Obesity in the Greek Population.
Common variants in PCSK1 influence blood pressure and body mass index.
Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.
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.
Contribution of Common PCSK1 Genetic Variants to Obesity in 8,359 Subjects from Multi-Ethnic American Population.
Defective transport of the obesity mutant PC1/3 N222D contributes to loss of function.
Early Clinical Diagnosis of PC1/3 Deficiency in a Patient With a Novel Homozygous PCSK1 Splice-Site Mutation.
Effects of PCSK1 genetic variants on obesity among Thai children and their family members: in relation to health risk, and biochemical and anthropometric parameters.
Endoplasmic reticulum-associated degradation of the mouse PC1/3-N222D hypomorph and human PCSK1 mutations contributes to obesity.
Environment and Gene Association With Obesity and Their Impact on Neurodegenerative and Neurodevelopmental Diseases.
Exome sequencing in Thai patients with familial obesity.
Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism.
Genetic and Functional Characterization of PCSK1.
Genetic Architecture of Human Obesity Traits in the Rhesus Macaque.
Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity.
Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity.
Human 'brite/beige' adipocytes develop from capillary networks, and their implantation improves metabolic homeostasis in mice.
Hyperphagia and Obesity in Prader?Willi Syndrome: PCSK1 Deficiency and Beyond?
Individual Genetic Variations Related to Satiety and Appetite Control Increase Risk of Obesity in Preschool-Age Children in the STRONG Kids Program.
Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.
Mice lacking PC1/3 expression in POMC-expressing cells do not develop obesity.
Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls.
Novel Homozygous Inactivating Mutation in the PCSK1 Gene in an Infant with Congenital Malabsorptive Diarrhea.
PC1/3 Deficiency Impacts Pro-opiomelanocortin Processing in Human Embryonic Stem Cell-Derived Hypothalamic Neurons.
PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders.
PCSK1 rs6232 is associated with childhood and adult class III obesity in the Mexican population.
PCSK1 Variants and Human Obesity.
Polymorphisms in an obesity-related gene (PCSK1) are associated with fat deposition and production traits in Italian heavy pigs.
Re: "The Association of Common Variants in PCSK1 With Obesity: A HuGE Review and Meta-Analysis".
Revisiting PC1/3 Mutants: Dominant-Negative Effect of Endoplasmic Reticulum-Retained Mutants.
Setmelanotide: First Approval.
Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
The association of common variants in PCSK1 with obesity: a HuGE review and meta-analysis.
The obesity-related polymorphism PCSK1 rs6235 is associated with essential hypertension in the Han Chinese population.
[Heritability of obesity in children aged 30-36 months and an analysis of single nucleotide polymorphisms at four loci in Xi'an, China].
Obesity, Morbid
Association between rs155971 in the PCSK1 gene and the lipid profile of obese Thai children: a family-based study.
Implication of heterozygous variants in genes of the leptin-melanocortin pathway in severe obesity.
Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls.
Novel Mutations in Obesity-Related Genes in Turkish Children with Non-Syndromic Early Onset Severe Obesity: A Multicentre Study
PC1/3 Deficiency Impacts Pro-opiomelanocortin Processing in Human Embryonic Stem Cell-Derived Hypothalamic Neurons.
Revisiting PC1/3 Mutants: Dominant-Negative Effect of Endoplasmic Reticulum-Retained Mutants.
Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.
Overweight
A common variant near BDNF is associated with dietary calcium intake in adolescents.
Association of PCSK1 rs6234 with obesity and related traits in a Chinese Han population.
Association of the rs6235 variant in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene with obesity and related traits in a Taiwanese population.
Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review.
Pediatric Obesity
Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion.
Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism.
The association of common variants in PCSK1 with obesity: a HuGE review and meta-analysis.
Pheochromocytoma
Expression of PC2 and PC1/PC3 in human pheochromocytomas.
Primary Ovarian Insufficiency
Epistasis between polymorphisms in PCSK1 and DBH is associated with premature ovarian failure.
proprotein convertase 1 deficiency
Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity.
Hyperphagia and Obesity in Prader?Willi Syndrome: PCSK1 Deficiency and Beyond?
Mice lacking PC1/3 expression in POMC-expressing cells do not develop obesity.
Novel Homozygous Inactivating Mutation in the PCSK1 Gene in an Infant with Congenital Malabsorptive Diarrhea.
PC1/3 Deficiency Impacts Pro-opiomelanocortin Processing in Human Embryonic Stem Cell-Derived Hypothalamic Neurons.
PCSK1 Variants and Human Obesity.
Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
Rectal Neoplasms
PCSK1 Overexpression in Rectal Cancer Correlates with Poor Response to Preoperative Chemoradiotherapy and Prognosis.
Sarcoma
Searching for molecular targets in sarcoma.