دورية أكاديمية
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
| العنوان: | Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. |
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| المؤلفون: | Mayr, J.A., Haack, T.B., Graf, E., Zimmermann, F.A., Wieland, T., Haberberger, B., Superti-Furga, A., Kirschner, J., Steinmann, B., Baumgartner, M.R., Moroni, I., Lamantea, E., Zeviani, M., Rodenburg, R.J., Smeitink, J., Strom, T.M., Meitinger, T., Sperl, W., Prokisch, H. |
| المصدر: | Am. J. Hum. Genet. 90, 314-320 (2012) |
| بيانات النشر: | Cell Press |
| سنة النشر: | 2012 |
| المجموعة: | PuSH - Publikationsserver des Helmholtz Zentrums München |
| مصطلحات موضوعية: | Adenine-nucleotide translocator, ATP synthase deficiency, Lactic-acidosis, Hypertrophic cardiomyopathy, Congenital cataract, 3-methylglutaconic aciduria, Oxidative-phosphorylation, Muscle, Myotparhy, Expression |
| الوصف: | Exome sequencing of an individual with congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis, all typical symptoms of Sengers syndrome, discovered two nonsense mutations in the gene encoding mitochondrial acylglycerol kinase (AGK). Mutation screening of AGK in further individuals with congenital cataracts and cardiomyopathy identified numerous loss-of-function mutations in an additional eight families, confirming the causal nature of AGK deficiency in Sengers syndrome. The loss of AGK led to a decrease of the adenine nucleotide translocator in the inner mitochondrial membrane in muscle, consistent with a role of AGK in driving the assembly of the translocator as a result of its effects on phospholipid metabolism in mitochondria. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | German |
| تدمد: | 0002-9297 1537-6605 |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/22284826; info:eu-repo/semantics/altIdentifier/wos/WOS:000300742200013; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=7324Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605 |
| DOI: | 10.1016/j.ajhg.2011.12.005 |
| الإتاحة: | https://doi.org/10.1016/j.ajhg.2011.12.005Test https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=7324Test |
| حقوق: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.DCDA0632 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 00029297 15376605 |
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| DOI: | 10.1016/j.ajhg.2011.12.005 |