Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene

Diabetes

Volumn 51, Issue 7, 2002, Pages 2301-2305

  Biason Lauber, Anna ^a   Lang Muritano, Mariarosaria ^a   Vaccaro, Tindara ^a   Schoenle, Eugen J ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; EUKARYOTIC INITIATION FACTOR 2ALPHA KINASE 3; INSULIN; MUTANT PROTEIN; PANCREAS ISLET CELL ANTIBODY; PROLINE; PROTEIN SERINE THREONINE KINASE; SERINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOPHOSPHORYLATION; AUTOSOMAL RECESSIVE DISORDER; BONE DEVELOPMENT; CASE REPORT; DEHYDRATION; DIABETIC KETOACIDOSIS; EIF2AK3 GENE; ENZYME ACTIVITY; ENZYME PHOSPHORYLATION; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GROWTH RETARDATION; HOMOZYGOSITY; HUMAN; HYPOPLASIA; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN TREATMENT; MICROCEPHALY; MISSENSE MUTATION; PANCREAS DISEASE; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; SPONDYLOEPIPHYSEAL DYSPLASIA; SYNDROME; WOLCOTT RALLISON SYNDROME;

EID: 0036307333     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diabetes.51.7.2301     Document Type: Article

References (10)

1. Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia
2. EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome
3. Translation and protein folding are coupled by the endoplasmic reticulum resident kinase
4. Identification and characterization of pancreatic eukaryotic initiation factor 2α-subunit kinase, PEK, involved in translational control
5. Dynamic interaction of BiP and ER stress transducers in the unfolded-protein response
6. Ligand-independent dimerization activates the stress response kinases IRE1 and PERK in the lumen of the endoplasmic reticulum
7. Diabetes mellitus and exocrine pancreas dysfunction in Perk -/- mice reveals a role for translational control in secretory cell survival
8. Autopsy findings in the Wolcott- Rallison syndrome
9. Long-term course of neonatal diabetes
10. Translational control is required for the unfolded protein response and in vivo glucose homeostasis