Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity
about
Control of mRNA translation preserves endoplasmic reticulum function in beta cells and maintains glucose homeostasisWolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcomeThe EIF2AK3 gene region and type I diabetes in subjects from South IndiaER chaperones in mammalian development and human diseasesHomozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disabilityTranslational control by eIF2α kinases in long-lasting synaptic plasticity and long-term memory.Brain-specific disruption of the eIF2α kinase PERK decreases ATF4 expression and impairs behavioral flexibility.Acute ablation of PERK results in ER dysfunctions followed by reduced insulin secretion and cell proliferation.Many faces of monogenic diabetesPERK: a novel therapeutic target for neurodegenerative diseases?PERK (EIF2AK3) regulates proinsulin trafficking and quality control in the secretory pathway.Wolcott-Rallison syndromeFunctional analysis of Rfx6 and mutant variants associated with neonatal diabetes.Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review.Conserved intermolecular salt bridge required for activation of protein kinases PKR, GCN2, and PERK.Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane.Permanent diabetes during the first year of life: multiple gene screening in 54 patientsPerk gene dosage regulates glucose homeostasis by modulating pancreatic β-cell functions.Getting the better of ER stress.Proinsulin misfolding and endoplasmic reticulum stress during the development and progression of diabetes.Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutationsThe eIF2 kinase PERK and the integrated stress response facilitate activation of ATF6 during endoplasmic reticulum stress.Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.PERK is required in the adult pancreas and is essential for maintenance of glucose homeostasis.ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiologySeven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.Circadian control of β-cell function and stress responses.Eukaryotic initiation factor 2 phosphorylation and translational control in metabolism.The unfolded protein response: a pathway that links insulin demand with beta-cell failure and diabetesDifferential diagnosis of type 1 diabetes: which genetic syndromes need to be considered?Insulin secretion and Ca2+ dynamics in β-cells are regulated by PERK (EIF2AK3) in concert with calcineurin.Endoplasmic reticulum stress-induced apoptosis in the development of diabetes: is there a role for adipose tissue and liver?Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.Aberrant islet unfolded protein response in type 2 diabetesDeficiency of the BiP cochaperone ERdj4 causes constitutive endoplasmic reticulum stress and metabolic defectsThe eIF2α kinase PERK limits the expression of hippocampal metabotropic glutamate receptor-dependent long-term depression.The unfolded protein response is required to maintain the integrity of the endoplasmic reticulum, prevent oxidative stress and preserve differentiation in β-cells.Management of diabetes mellitus in infants.Regulatory crosstalk within the mammalian unfolded protein response.
P2860
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P2860
Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity
description
2004 nî lūn-bûn
@nan
2004 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Wolcott-Rallison Syndrome: cli ...... stion of genetic heterogeneity
@ast
Wolcott-Rallison Syndrome: cli ...... stion of genetic heterogeneity
@en
Wolcott-Rallison Syndrome: cli ...... stion of genetic heterogeneity
@nl
type
label
Wolcott-Rallison Syndrome: cli ...... stion of genetic heterogeneity
@ast
Wolcott-Rallison Syndrome: cli ...... stion of genetic heterogeneity
@en
Wolcott-Rallison Syndrome: cli ...... stion of genetic heterogeneity
@nl
prefLabel
Wolcott-Rallison Syndrome: cli ...... stion of genetic heterogeneity
@ast
Wolcott-Rallison Syndrome: cli ...... stion of genetic heterogeneity
@en
Wolcott-Rallison Syndrome: cli ...... stion of genetic heterogeneity
@nl
P2093
P50
P1433
P1476
Wolcott-Rallison Syndrome: cli ...... stion of genetic heterogeneity
@en
P2093
A Kemal Topaloglu
Annick Lecoq
Bassan Bin-Abbas
Bernard Zabel
Catherine Diatloff-Zito
Cécile Julier
Céline Haton
Doris Taha
Jacques L Michaud
Jean-Jacques Robert
P304
P356
10.2337/DIABETES.53.7.1876
P407
P577
2004-07-01T00:00:00Z