المؤلفون: Mazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, Ana C. González-Álvarez, Stefan T. Arold, Mohammad Anas Dababo, Omar A. Alharbi, Rawan Almass, AlBandary AlBakheet, Dalia AlSarar, Alya Qari, Mysoon M. Al-Ansari, Monika Oláhová, Saif A. Al-Shahrani, Moeenaldeen AlSayed, Dilek Colak, Robert W. Taylor, Mohammed AlOwain, Namik Kaya

المصدر: Cells; Volume 11; Issue 19; Pages: 3154

مصطلحات موضوعية: RTN4IP1, founder variant, missense, age of variant, encephalopathy, optic atrophy, in silico pathogenicity prediction, structural modeling

وصف الملف: application/pdf

العلاقة: Organelle Function; https://dx.doi.org/10.3390/cells11193154Test

الإتاحة: https://doi.org/10.3390/cells11193154Test

المؤلفون: Jia-Xin Tang, Angela Pyle, Robert W. Taylor, Monika Oláhová

المصدر: Genes; Volume 12; Issue 10; Pages: 1604

مصطلحات موضوعية: CRISPR/Cas9, genome editing, genome-wide CRISPR libraries screening, mitochondrial disease, cell and animal models, mitochondrial biology

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12101604Test

الإتاحة: https://doi.org/10.3390/genes12101604Test

المؤلفون: Jia Xin Tang, Kyle Thompson, Robert W. Taylor, Monika Oláhová

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 11; Pages: 3820

مصطلحات موضوعية: OXPHOS biogenesis, mitochondrial gene expression, mitochondrial import, OXPHOS assembly factors, mitochondrial ACP, LYRM proteins

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms21113820Test

الإتاحة: https://doi.org/10.3390/ijms21113820Test