On the trail of the SBP2-syndrome: Clues in a daedalean maze

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 8, 2010, Pages 3618-3621

  Duntas, Leonidas H ^a  

^a UNIVERSITY OF ATHENS   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; DNA; LIOTHYRONINE; SELENIUM; SELENOPROTEIN; SPECIFIC BINDING PROTEIN 2; THYROID HORMONE; THYROTROPIN; THYROXINE; UNCLASSIFIED DRUG;

ALLELE; BONE DEVELOPMENT; BONE MATURATION; CASE REPORT; CHILD; DNA SEQUENCE; EDITORIAL; EXON; FEMALE; GENE EXPRESSION; HETEROZYGOTE; HORMONE METABOLISM; HUMAN; IN VITRO STUDY; MOTOR COORDINATION; MYOPATHY; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; SCHOOL CHILD;

EID: 77955387266     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-1325     Document Type: Editorial

References (20)

1. Kryukov GV, Castellano S, Novoselov SV, Lobanov AV, Zehtab O, Guigó R, Gladyshev VN 2003 Characterization of mammalian selenoproteomes. Science 300:1439-1443
2. Papp LV, Lu J, Holmgren A, Khanna KK 2007 From selenium to selenoproteins: synthesis, identity and their role in human health. Antioxid Redox Signal 9:775-806
3. Köhrle J, Jakob F, Contempré B, Dumont JE 2005 Selenium, the thyroid and the endocrine system. Endocr Rev 26:944-984
4. Berry MJ, Banu L, Chen YY, Mandel SJ, Kieffer JD, Harney JW, Larsen PR 1991 Recognition of UGA as a selenocysteine codon in type I deiodinase requires sequences in the 3′ untranslated region. Nature 353:273-276 (Pubitemid 21896772)
5. Copeland PR, Driscoll DM 1999 Purification, redox sensitivity and RNA binding properties of SECIS-binding protein 2, a protein involved in selenoprotein biosynthesis. J Biol Chem 274:25447-25454 (Pubitemid 129530714)
6. Squires JE, Stoytchev I, Forry EP, Berry MJ 2007 SBP2 binding affinity is a major determinant in differential selenoprotein mRNA translation and sensitivity to nonsense-mediated decay. Mol Cell Biol 27:7848-7855 (Pubitemid 350086418)
7. Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S 2005 Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet 37:1247-1252 (Pubitemid 41568708)
8. Di Cosmo C, McLellan N, Liao XH, Khanna KK, Weiss RE, Papp L, Refetoff S 2009 Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X). J Clin Endocrinol Metab 94:4003-4009
9. Azevedo MF, Barra GB, Naves LA, Velasco LFR, Castro PGG, Goncalves de Castro LC, Amato AA, Miniard A, Driscoll D, Schomburg L, de Assis Rocha Neves F 2010 Selenoproteins-related disease in a young girl caused by nonsense mutations in the SBP2 gene. J Clin Endocrinol Metab 95:4066-4071
10. Mitchell C, Robertson V, Montano S, Lu J, Clemons N, Halsall D, Rajanayagam O, Castanet M, Baguely D, Fitgerald R, Holmgren A, Coles A, Ogunko A, Chatterjee VK, The adult phenotype of multiple selenoprotein deficiencies associated with a novel SECISBP2 gene defect. Proc 8th International Workshop on Resistance to Thyroid Hormone and Action, Ponta Delgado, S. Miguel, Azores, Portugal, 2007, p OP18 (Abstract)
11. Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Roy SQ, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P 2001 Mutations in SPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet 29:17-18 (Pubitemid 32801799)
12. Arbogast S, Beuvin M, Fraysse B, Zhou H, Muntoni F, Ferreiro A 2009 Oxidative stress in SEPN-1 related myopathy: from pathophysiology to treatment. Ann Neurol 65:677-686
13. Arbogast S, Ferreiro A 2010 Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis. Antioxid Redox Signal 12:893-904
14. Furukawa S, Fujita T, Shimabukuro M, Iwaki M, Yamada Y, Nakajima Y, Nakayama O, Makishima M, Matsuda M, Shimomura I 2004 Increased oxidative stress in obesity and its impact on metabolic syndrome. J Clin Invest 114:1752-1761 (Pubitemid 40385531)
15. Puchau B, Zulet MA, de Echávarri AG, Hermsdorff HH, Martínez JA 2010 Dietary total antioxidant capacity is negatively associated with some metabolic syndrome features in healthy young adults. Nutrition 26:534-541
16. Schomburg L, Dumitrescu AM, Liao XH, Bin-Abbas B, Hoeflich J, Köhrle J, Refetoff S 2009 Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations. Thyroid 19:277-281
17. Galton VA, Schneider MJ, Clark AS, St Germain DL 2009 Life without thyroxine to 3,5,3′-triiodothyronine conversion: studies in mice devoid of the 5′-deiodinases. Endocrinology 150:2957-2963
18. Dumitrescu AM, Di Cosmo C, Liao XH, Weiss RE, Refetoff S 2010 The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal 12:905-920
19. Schomburg L 2010 Genetics and phenomics of selenoenzymes - how to identify an impaired biosynthesis? Mol Cell Endocrinol 322: 114-124
20. Papp LV, Holmgren A, Khanna KK 2010 Selenium and selenoproteins in health and disease. Antioxid Redox Signal 12:793-795