GC Scheper, T van der Klok, RJ van Andel, … - Nature genetics, 2007 - nature.com Leukoencephalopathy with brain stem and spinal cord involvement and lactate
elevation (LBSL) has recently been defined based on a highly characteristic
constellation of abnormalities observed by magnetic resonance imaging and ... Cited by 34 - Related articles - BL Direct - All 5 versions
- ►pnas.org SG Park, P Schimmel, S Kim - Proceedings of the National Academy of Sciences, 2008 - National Acad Sciences Aminoacylation of transfer RNAs establishes the rules of the genetic code. The
reactions are catalyzed by an ancient group of 20 enzymes (one for each amino
acid) known as aminoacyl tRNA synthetases (AARSs). Surprisingly, the ... Cited by 18 - Related articles - All 6 versions
JA Maassen, RS Jahangir Tafrechi, GMC … - Endocrinology and metabolism clinics of North America, 2006 - Elsevier Mitochondria are distinct organelles within eukaryotic cells. From an
evolutionary point of view, it is assumed that mitochondria originated from
bacteria by endosymbiotic mechanisms with proeukaryotic cells [2]. ... Cited by 10 - Related articles - All 4 versions
JA Maassen, LM t Hart, GM Janssen, E … - Biochemical Society transactions, 2006 - ncbi.nlm.nih.gov Multiple pathogenic pathways are able to deregulate glucose homoeostasis leading
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tRNALeu,UUR gene was found by us to be associated with a particular ... Cited by 9 - Related articles - BL Direct - All 4 versions
E Reiling, JV van Vliet-Ostaptchouk… - European Journal of Human Genetics, 2009 - nature.com Mitochondria play an important role in many processes, like glucose metabolism,
fatty acid oxidation and ATP synthesis. In this study, we aimed to identify
association of common polymorphisms in nuclear-encoded genes involved in ... Cited by 2 - Related articles - All 4 versions
- ►abbs.info W Zhou, X Feng, H Li, L Wang, B Zhu, W Liu, … - Acta Biochimica et Biophysica Sinica, 2009 - abbs.oxfordjournals.org Allelic loss of chromosome 3p, including the 3p21.3 region, is found in
95–100% of primary nasopharyngeal carcinoma (NPC) biopsies, suggesting that
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M Schiff, S Loublier, A Coulibaly, P Bénit, H … - Journal of Inherited Metabolic Disease - Springer Summary Diabetes mellitus is occasionally observed in patients with skeletal
muscle respiratory chain deficiency, suggesting that skeletal muscle mitochon-
drial dysfunction might play a pathogenic role in type 2 diabetes (T2D). In ... Related articles - All 2 versions
Y Bykhovskaya, E Mengesha, N Fischel- … - Molecular Genetics and Metabolism, 2009 - Elsevier The homoplasmic mitochondrial A1555G mutation in the 12S rRNA gene leads to a
mitochondrial translation disorder associated with deafness. The absence of
disease in non-cochlear tissues in all patients, and in the cochlea in some ... Related articles - All 2 versions
