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Functional analysis...
Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine
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Jansen, Jurgen (författare)
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Friesema, Edith C H (författare)
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Kester, Monique H A (författare)
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Milici, Carmelina (författare)
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Reeser, Maarten (författare)
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Grüters, Annette (författare)
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Barrett, Timothy G (författare)
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Mancilla, Edna E (författare)
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Svensson, Johan (författare)
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Wemeau, Jean-Louis (författare)
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da Silva Canalli, Maria Heloisa Busi (författare)
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- Lundgren, Johan (författare)
- 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 Medicine
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McEntagart, Meriel E (författare)
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Hopper, Neil (författare)
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Arts, Willem Frans (författare)
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Visser, Theo J (författare)
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(creator_code:org_t)
- The Endocrine Society, 2007
- 2007
- Engelska.
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 1945-7197 .- 0021-972X. ; 92:6, s. 2378-2381
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http://www.ncbi.nlm.... (free)
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http://dx.doi.org/10... (free)
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https://academic.oup...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
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Till lärosätets databas
- Av författaren/redakt...
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Jansen, Jurgen
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Friesema, Edith ...
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Kester, Monique ...
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Milici, Carmelin ...
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Reeser, Maarten
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Grüters, Annette
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visa fler...
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Barrett, Timothy ...
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Mancilla, Edna E
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Svensson, Johan
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Wemeau, Jean-Lou ...
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da Silva Canalli ...
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Lundgren, Johan
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McEntagart, Meri ...
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Hopper, Neil
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Arts, Willem Fra ...
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Visser, Theo J
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Pediatrik
- Artiklar i publikationen
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Journal of Clini ...
- Av lärosätet
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Lunds universitet