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WFRF:(Mancilla Edna E)
 

Sökning: WFRF:(Mancilla Edna E) > Functional analysis...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003672naa a2200481 4500
001oai:lup.lub.lu.se:b09275c1-58dc-48d8-97d8-41cf783de1cd
003SwePub
008160401s2007 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/1666322 URI
0247 a https://doi.org/10.1210/jc.2006-25702 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Jansen, Jurgen4 aut
2451 0a Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine
264 1b The Endocrine Society,c 2007
520 a Context: T-3 action in neurons is essential for brain development. Recent evidence indicates that monocarboxylate transporter 8 (MCT8) is important for neuronal T-3 uptake. Hemizygous mutations have been identified in the X-linked MCT8 gene in boys with severe psychomotor retardation and elevated serum T-3 levels. Objective: The objective of this study was to determine the functional consequences of MCT8 mutations regarding transport of T-3. Design: MCT8 function was studied in wild-type or mutant MCT8-transfected JEG3 cells by analyzing: 1) T-3 uptake, 2) T-3 metabolism in cells cotransfected with human type 3 deiodinase, 3) immunoblotting, and 4) immunocytochemistry. Results: The mutations identified in MCT8 comprise four deletions (24.5 kb, 2.4 kb, 14 bp, and 3 bp), three missense mutations (Ala224Val, Arg271His, and Leu471Pro), a nonsense mutation (Arg245stop), and a splice site mutation (94 amino acid deletion). All tested mutants were inactive in uptake and metabolism assays, except MCT8 Arg271His, which showed approximately 20% activity vs. wild-type MCT8. Conclusion: These findings support the hypothesis that the severe psychomotor retardation and elevated serum T-3 levels in these patients are caused by inactivation of the MCT8 transporter, preventing action and metabolism of T-3 in central neurons.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng
7001 a Friesema, Edith C H4 aut
7001 a Kester, Monique H A4 aut
7001 a Milici, Carmelina4 aut
7001 a Reeser, Maarten4 aut
7001 a Grüters, Annette4 aut
7001 a Barrett, Timothy G4 aut
7001 a Mancilla, Edna E4 aut
7001 a Svensson, Johan4 aut
7001 a Wemeau, Jean-Louis4 aut
7001 a da Silva Canalli, Maria Heloisa Busi4 aut
7001 a Lundgren, Johanu Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)pedi-jlu
7001 a McEntagart, Meriel E4 aut
7001 a Hopper, Neil4 aut
7001 a Arts, Willem Frans4 aut
7001 a Visser, Theo J4 aut
7102 a Pediatrik, Lundb Sektion V4 org
7730 t Journal of Clinical Endocrinology and Metabolismd : The Endocrine Societyg 92:6, s. 2378-2381q 92:6<2378-2381x 1945-7197x 0021-972X
8564 u http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17356046&dopt=Abstractx freey FULLTEXT
8564 u http://dx.doi.org/10.1210/jc.2006-2570x freey FULLTEXT
8564 u https://academic.oup.com/jcem/article-pdf/92/6/2378/10780668/jcem2378.pdf
8564 8u https://lup.lub.lu.se/record/166632
8564 8u https://doi.org/10.1210/jc.2006-2570

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