Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. - Wikidata - awgldk - TriplyDB

Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.

Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.

http://www.wikidata.org/entity/Q34649087

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Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.Obesity genetics in mouse and human: back and forth, and back again The association of common variants in PCSK1 with obesity: a HuGE review and meta-analysis Physiology of proglucagon peptides: role of glucagon and GLP-1 in health and disease Genetic & epigenetic approach to human obesity Functional consequences of a novel variant of PCSK1 Testing the role of predicted gene knockouts in human anthropometric trait variation The effect of PCSK1 variants on waist, waist-hip ratio and glucose metabolism is modified by sex and glucose tolerance status Association of PCSK1 rs6234 with obesity and related traits in a Chinese Han population.Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion Recent progress in the genetics of common obesity Aminoglycosides, but not PTC124 (Ataluren), rescue nonsense mutations in the leptin receptor and in luciferase reporter genes.From monogenic to polygenic obesity: recent advances.Defective transport of the obesity mutant PC1/3 N222D contributes to loss of function.Intraislet production of GLP-1 by activation of prohormone convertase 1/3 in pancreatic α-cells in mouse models of ß-cell regeneration.Biochemical and cell biological properties of the human prohormone convertase 1/3 Ser357Gly mutation: a PC1/3 hypermorph.What lies ahead for the proprotein convertases?Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.PCSK1 rs6232 is associated with childhood and adult class III obesity in the Mexican population.Novel insights into the aetiology and pathogenesis of hypopituitarism.Pax6 directly down-regulates Pcsk1n expression thereby regulating PC1/3 dependent proinsulin processing.Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.Impaired enteroendocrine development in intestinal-specific Islet1 mouse mutants causes impaired glucose homeostasis.Contribution of common PCSK1 genetic variants to obesity in 8,359 subjects from multi-ethnic American population.Modulation of PC1/3 activity by self-interaction and substrate binding.The role of incretins in glucose homeostasis and diabetes treatment.Hypothalamic proopiomelanocortin processing and the regulation of energy balance Genetic approaches to understanding human obesity.Dysgenesis of enteroendocrine cells in Aristaless-Related Homeobox polyalanine expansion mutations.Molecular basis of obesity: current status and future prospects Loss of agouti-related peptide does not significantly impact the phenotype of murine POMC deficiency.Obesity associated with type 2 diabetes mellitus is linked to decreased PC1/3 mRNA expression in the Jejunum.The role of gut hormones in glucose homeostasis Pediatric obesity: etiology and treatment.Inherited adrenal hypoplasia: not just for kids!Development of adrenal cortex zonation.Congenital diarrheal disorders: an updated diagnostic approach.The adrenal.Pediatric obesity. An introduction

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P2860

Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.

http://www.wikidata.org/entity/Q34649087

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2003 nî lūn-bûn

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2003 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2003 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2003年の論文

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Small-intestinal dysfunction a ...... otein convertase 1 deficiency.

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Diane Ostrega

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Graham J Dockray

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Khalid Hussain

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Mehul T Dattani

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P2860

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

Prohormone convertase PC5 is a candidate processing enzyme for prorenin in the human adrenal cortex

Biosynthesis, distinct post-translational modifications, and functional characterization of lymphoma proprotein convertase

Intracellular trafficking and activation of the furin proprotein convertase: localization to the TGN and recycling from the cell surface

2.4 A resolution crystal structure of the prototypical hormone-processing protease Kex2 in complex with an Ala-Lys-Arg boronic acid inhibitor

The crystal structure of the proprotein processing proteinase furin explains its stringent specificity

Binding of BiP to the processing enzyme lymphoma proprotein convertase prevents aggregation, but slows down maturation

Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function

The family of subtilisin/kexin like pro-protein and pro-hormone convertases: divergent or shared functions

Mutational analysis of predicted interactions between the catalytic and P domains of prohormone convertase 3 (PC3/PC1)

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