EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome

By M. Delepine, M. Nicolino, T. Barrett, Mahamadee Golamaully, G. Lathrop, C. Julier. Nature Genetics, 2000

867 citations recorded by the source corpus.

Subfields: Biochemistry, Cell Biology, Surgery

View Paper: https://www.semanticscholar.org/paper/ddc6785125688edf2b0ea9493a0fa2642a07e625

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In Biochemistry

1. Jun Wu
2. R. Kaufman
3. S. S. Cao

In Cell Biology

1. R. Kaufman
2. D. Ron
3. C. Hetz
4. G. Hotamışlıgil
5. J. Malhotra
6. Peter Walter
7. H. Harding
8. F. Papa

In Surgery

1. R. Kaufman
2. D. Ron
3. G. Hotamışlıgil
4. C. Hetz
5. S. S. Cao
6. Peter Walter
7. F. Papa
8. M. Cnop

Citations in the corpus

• Pushing the limits of the scanning mechanism for initiation of translation (2002, background): “Initiation factor eIF2 plays a key role in translational control (Clemens, 2001; Dever, 2002) and mutations that perturb regulation of eIF2 have profound pathological consequences (Delépine et al., 2000; Han et al., 2001; Harding et al., 2001; Van der Knaap et al., 2002).”
• Translational control in the endoplasmic reticulum stress response. (2002, background): “Interestingly, similar findings are observed in rare cases of mutations in the human EIF2AK3 (PERK) gene, a cause of the Wolcott-Rallison syndrome (22, 23).”
• ASK1 is essential for endoplasmic reticulum stress-induced neuronal cell death triggered by expanded polyglutamine repeats. (2002, background): “ASK1 is essential for endoplasmic reticulum stress-induced neuronal cell death triggered by expanded polyglutamine repeats”
• Cellular Stress Responses: Cell Survival and Cell Death (2010, background): “Defects in PERK-eIF2α pathways cause Wolcott-Rallison syndrome, a rare infantile-onset insulin-requiring diabetes [239] and PERK-null mice developed similar phenotypes [240].”
• Endoplasmic Reticulum Stress and Oxidative Stress in Cell Fate Decision and Human Disease (2014, background): “Patients with Wolcott–Rallison syndrome, an autosomal-recessive disease, harbor loss-of-function mutations in the PERK gene and suffer from infancy-onset b-cell failure (35, 74, 191).”
• The integrated stress response: From mechanism to disease (2020, background): “Mutations in PERK are associated with a rare autosomal recessive disease, Wolcott-Rallison syndrome (WRS), characterized by early-onset diabetes and multiple epiphyseal dysplasia (96).”
• Regulation of Insulin Synthesis and Secretion and Pancreatic Beta-Cell Dysfunction in Diabetes (2012, neutral): “PERK mutation results in Wolcott-Rallison syndrome associated with permanent neonatal diabetes in humans [120].”
• Higher-Order Substrate Recognition of eIF2α by the RNA-Dependent Protein Kinase PKR (2005, neutral): “Demonstrating the potential relevance of an N lobe-to-N lobe mode of kinase-domain dimerization for PERK function, the eIF2α kinase invariant residue Arg587 in PERK (equivalent to Arg262 in PKR) is mutated in patients with a hereditary form of diabetes known as Wolcott-Rallison syndrome (Delepine et”
• The Unfolded Protein Response and Cell Fate Control. (2017, positive): “A striking example of UPR dysregulation in diabetes is evidenced in PERK-deficient animals (Delépine et al., 2000; Harding et al., 2000).”