메뉴 건너뛰기




Volumn 16, Issue 7, 2015, Pages 510-520

Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: About two autopsy cases

Author keywords

Diabetes mellitus permanent neonatal; Endoplasmic reticulum; Liver steatosis; Pathology; Wolcott Rallison syndrome

Indexed keywords

INITIATION FACTOR 2ALPHA; MEMBRANE PROTEIN; EIF2AK3 PROTEIN, HUMAN; PROTEIN KINASE R;

EID: 84942988433     PISSN: 1399543X     EISSN: 13995448     Source Type: Journal    
DOI: 10.1111/pedi.12201     Document Type: Article
Times cited : (12)

References (30)
  • 1
    • 3042696843 scopus 로고    scopus 로고
    • Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity
    • Senée V, Vattem KM, Delépine M et al. Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. Diabetes 2004: 53: 1876-1883.
    • (2004) Diabetes , vol.53 , pp. 1876-1883
    • Senée, V.1    Vattem, K.M.2    Delépine, M.3
  • 2
    • 70449103419 scopus 로고    scopus 로고
    • Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families
    • Rubio-Cabezas O, Patch AM, Minton JA et al. Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. J Clin Endocrinol Metab 2009: 94: 4162-4170.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 4162-4170
    • Rubio-Cabezas, O.1    Patch, A.M.2    Minton, J.A.3
  • 3
    • 77954544750 scopus 로고    scopus 로고
    • Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature
    • Ozbek MN, Senée V, Aydemir S et al. Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature. Pediatr Diabetes 2010: 11: 279-285.
    • (2010) Pediatr Diabetes , vol.11 , pp. 279-285
    • Ozbek, M.N.1    Senée, V.2    Aydemir, S.3
  • 5
    • 84879153654 scopus 로고    scopus 로고
    • Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review
    • Habeb AM. Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review. Libyan J Med 2013: 10: 21137.
    • (2013) Libyan J Med , vol.10 , pp. 21137
    • Habeb, A.M.1
  • 6
    • 0034425698 scopus 로고    scopus 로고
    • EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome
    • Delépine M, Nicolino M, Barrett T, Golamaully M, Lathrop GM, Julier C. EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nat Genet 2000: 25: 406-409.
    • (2000) Nat Genet , vol.25 , pp. 406-409
    • Delépine, M.1    Nicolino, M.2    Barrett, T.3    Golamaully, M.4    Lathrop, G.M.5    Julier, C.6
  • 7
    • 0036895383 scopus 로고    scopus 로고
    • Endoplasmic reticulum stress and the development of diabetes: a review
    • Harding HP, Ron D. Endoplasmic reticulum stress and the development of diabetes: a review. Diabetes 2002: 51 (Suppl. 3): S455-S461.
    • (2002) Diabetes , vol.51 , pp. S455-S461
    • Harding, H.P.1    Ron, D.2
  • 8
    • 0037326359 scopus 로고    scopus 로고
    • When translation meets metabolism: multiple links to diabetes
    • 2003
    • Shi Y, Taylor SI, Tan SL, Sonenberg N. When translation meets metabolism: multiple links to diabetes. Endocr Rev 2003: 24: 91-101.
    • Endocr Rev , vol.24 , pp. 91-101
    • Shi, Y.1    Taylor, S.I.2    Tan, S.L.3    Sonenberg, N.4
  • 10
    • 0041328471 scopus 로고    scopus 로고
    • Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3
    • Brickwood S, Bonthron DT, Al-Gazali LI et al. Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3. J Med Genet 2003: 40: 685-689.
    • (2003) J Med Genet , vol.40 , pp. 685-689
    • Brickwood, S.1    Bonthron, D.T.2    Al-Gazali, L.I.3
  • 11
    • 50149105444 scopus 로고    scopus 로고
    • Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome
    • Engelmann G, Meyburg J, Shahbek N et al. Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome. J Inherit Metab Dis 2008: 31: 540-546.
    • (2008) J Inherit Metab Dis , vol.31 , pp. 540-546
    • Engelmann, G.1    Meyburg, J.2    Shahbek, N.3
  • 12
    • 0031755020 scopus 로고    scopus 로고
    • Identification and characterization of pancreatic eukaryotic initiation factor 2 -subunit kinase, PEK, involved in translational control
    • Shi Y, Vattem KM, Sood R et al. Identification and characterization of pancreatic eukaryotic initiation factor 2 -subunit kinase, PEK, involved in translational control. Mol Cell Biol 1998: 18: 7499-7509.
    • (1998) Mol Cell Biol , vol.18 , pp. 7499-7509
    • Shi, Y.1    Vattem, K.M.2    Sood, R.3
  • 13
    • 0034973982 scopus 로고    scopus 로고
    • Translational control is required for the unfolded protein response and in vivo glucose homeostasis
    • Scheuner D, Song B, McEwen E et al. Translational control is required for the unfolded protein response and in vivo glucose homeostasis. Mol Cell 2001: 7: 1165-1176.
    • (2001) Mol Cell , vol.7 , pp. 1165-1176
    • Scheuner, D.1    Song, B.2    McEwen, E.3
  • 14
    • 0034968330 scopus 로고    scopus 로고
    • Diabetes mellitus and excocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in survival of secretory cells
    • Harding HP, Zeng H, Zhang Y et al. Diabetes mellitus and excocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in survival of secretory cells. Mol Cell 2001: 7: 1153-1163.
    • (2001) Mol Cell , vol.7 , pp. 1153-1163
    • Harding, H.P.1    Zeng, H.2    Zhang, Y.3
  • 15
    • 0036091476 scopus 로고    scopus 로고
    • The PERK eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas
    • Zhang P, McGrath B, Li S et al. The PERK eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas. Mol Cell Biol 2002: 22: 3864-3874.
    • (2002) Mol Cell Biol , vol.22 , pp. 3864-3874
    • Zhang, P.1    McGrath, B.2    Li, S.3
  • 16
    • 0041814595 scopus 로고    scopus 로고
    • PERK eIF2alpha kinase regulates neonatal growth by controlling the expression of circulating insulin-like growth factor-I derived from the liver
    • Li Y, Iida K, O'Neil J et al. PERK eIF2alpha kinase regulates neonatal growth by controlling the expression of circulating insulin-like growth factor-I derived from the liver. Endocrinology 2003: 144: 3505-3513.
    • (2003) Endocrinology , vol.144 , pp. 3505-3513
    • Li, Y.1    Iida, K.2    O'Neil, J.3
  • 17
    • 0043133837 scopus 로고    scopus 로고
    • Phosphorylation of the alpha subunit of eukaryotic initiation factor 2 is required for activation of NF-kappaB in response to diverse cellular stresses
    • Jiang HY, Wek SA, McGrath BC et al. Phosphorylation of the alpha subunit of eukaryotic initiation factor 2 is required for activation of NF-kappaB in response to diverse cellular stresses. Mol Cell Biol 2003: 23: 5651-5663.
    • (2003) Mol Cell Biol , vol.23 , pp. 5651-5663
    • Jiang, H.Y.1    Wek, S.A.2    McGrath, B.C.3
  • 18
    • 36048996065 scopus 로고    scopus 로고
    • PERK eIF2 alpha kinase is required to regulate the viability of the exocrine pancreas in mice
    • Iida K, Li Y, McGrath BC, Frank A, Cavener DR. PERK eIF2 alpha kinase is required to regulate the viability of the exocrine pancreas in mice. BMC Cell Biol 2007: 8: 38.
    • (2007) BMC Cell Biol , vol.8 , pp. 38
    • Iida, K.1    Li, Y.2    McGrath, B.C.3    Frank, A.4    Cavener, D.R.5
  • 19
    • 33751430251 scopus 로고    scopus 로고
    • PERK EIF2AK3 control of pancreatic beta cell differentiation and proliferation is required for postnatal glucose homeostasis
    • Zhang W, Feng D, Li Y, Iida K, McGrath B, Cavener DR. PERK EIF2AK3 control of pancreatic beta cell differentiation and proliferation is required for postnatal glucose homeostasis. Cell Metab 2006: 4: 491-497.
    • (2006) Cell Metab , vol.4 , pp. 491-497
    • Zhang, W.1    Feng, D.2    Li, Y.3    Iida, K.4    McGrath, B.5    Cavener, D.R.6
  • 20
    • 54049133335 scopus 로고    scopus 로고
    • PERK is essential for neonatal skeletal development to regulate osteoblast proliferation and differentiation
    • Wei J, Sheng X, Feng D, McGrath B, Cavener DR. PERK is essential for neonatal skeletal development to regulate osteoblast proliferation and differentiation. J Cell Physiol 2008: 217: 693-707.
    • (2008) J Cell Physiol , vol.217 , pp. 693-707
    • Wei, J.1    Sheng, X.2    Feng, D.3    McGrath, B.4    Cavener, D.R.5
  • 21
    • 70349597373 scopus 로고    scopus 로고
    • Acute ablation of PERK results in ER dysfunctions followed by reduced insulin secretion and cell proliferation
    • Feng D, Wei J, Gupta S, McGrath BC, Cavener DR. Acute ablation of PERK results in ER dysfunctions followed by reduced insulin secretion and cell proliferation. BMC Cell Biol 2009: 4: 61.
    • (2009) BMC Cell Biol , vol.4 , pp. 61
    • Feng, D.1    Wei, J.2    Gupta, S.3    McGrath, B.C.4    Cavener, D.R.5
  • 22
    • 77955383087 scopus 로고    scopus 로고
    • PERK (EIF2AK3) regulates proinsulin trafficking and quality control in the secretory pathway
    • Gupta S, McGrath B, Cavener DR. PERK (EIF2AK3) regulates proinsulin trafficking and quality control in the secretory pathway. Diabetes 2010: 59: 1937-1947.
    • (2010) Diabetes , vol.59 , pp. 1937-1947
    • Gupta, S.1    McGrath, B.2    Cavener, D.R.3
  • 23
    • 0015288961 scopus 로고
    • Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia
    • Wolcott CD, Rallison ML. Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. J Pediatr 1972: 80: 292-297.
    • (1972) J Pediatr , vol.80 , pp. 292-297
    • Wolcott, C.D.1    Rallison, M.L.2
  • 24
    • 0033914612 scopus 로고    scopus 로고
    • Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy
    • Castelnau P, Le Merrer M, Diatloff-Zito C, Marquis E, Tête MJ, Robert JJ. Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy. Eur J Pediatr 2000: 159: 631-633.
    • (2000) Eur J Pediatr , vol.159 , pp. 631-633
    • Castelnau, P.1    Le Merrer, M.2    Diatloff-Zito, C.3    Marquis, E.4    Tête, M.J.5    Robert, J.J.6
  • 26
    • 84859898921 scopus 로고    scopus 로고
    • Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome
    • Søvik O, Njølstad PR, Jellum E, Molven A. Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome. J Inherit Metab Dis 2008: 31 (Suppl. 2): S293-S297.
    • (2008) J Inherit Metab Dis , vol.31 , pp. S293-S297
    • Søvik, O.1    Njølstad, P.R.2    Jellum, E.3    Molven, A.4
  • 27
    • 4143059174 scopus 로고    scopus 로고
    • Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature
    • Iyer S, Korada M, Rainbow L et al. Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature. Acta Paediatr 2004: 93: 1195-1201.
    • (2004) Acta Paediatr , vol.93 , pp. 1195-1201
    • Iyer, S.1    Korada, M.2    Rainbow, L.3
  • 28
    • 79955103141 scopus 로고    scopus 로고
    • The contribution of endoplasmic reticulum stress to liver diseases
    • Dara L, Ji C, Kaplowitz N. The contribution of endoplasmic reticulum stress to liver diseases. Hepatology 2011: 53: 1752-1763.
    • (2011) Hepatology , vol.53 , pp. 1752-1763
    • Dara, L.1    Ji, C.2    Kaplowitz, N.3
  • 30
    • 33750086043 scopus 로고    scopus 로고
    • Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus
    • de Wit MC, de Coo IF, Julier C et al. Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus. Neurogenetics 2006: 7: 259-263.
    • (2006) Neurogenetics , vol.7 , pp. 259-263
    • de Wit, M.C.1    de Coo, I.F.2    Julier, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.