دورية أكاديمية
Nucleolar and ribosomal dysfunction—a common pathomechanism in childhood progerias?
| العنوان: | Nucleolar and ribosomal dysfunction—a common pathomechanism in childhood progerias? |
|---|---|
| المؤلفون: | Phan, Tamara, Khalid, Fatima, Iben, Sebastian |
| بيانات النشر: | Universität Ulm |
| سنة النشر: | 2021 |
| المجموعة: | OPARU (OPen Access Repository of Ulm University) |
| مصطلحات موضوعية: | Hutchinson–Gilford Progeria syndrome, Trichothiodystrophy, Translational fidelity, DDC 610 / Medicine & health, Cell nucleolus, Aging, Cockayne syndrome, RNA polymerase I, Ribosomes, Trichothiodystrophy syndromes, Progeria, Nucleolus, Altern, Progerie, RNS-Polymerase I |
| الوصف: | The nucleolus organizes around the sites of transcription by RNA polymerase I (RNA Pol I). rDNA transcription by this enzyme is the key step of ribosome biogenesis and most of the assembly and maturation processes of the ribosome occur co-transcriptionally. Therefore, disturbances in rRNA transcription and processing translate to ribosomal malfunction. Nucleolar malfunction has recently been described in the classical progeria of childhood, Hutchinson–Gilford syndrome (HGPS), which is characterized by severe signs of premature aging, including atherosclerosis, alopecia, and osteoporosis. A deregulated ribosomal biogenesis with enlarged nucleoli is not only characteristic for HGPS patients, but it is also found in the fibroblasts of “normal” aging individuals. Cockayne syndrome (CS) is also characterized by signs of premature aging, including the loss of subcutaneous fat, alopecia, and cataracts. It has been shown that all genes in which a mutation causes CS, are involved in rDNA transcription by RNA Pol I. A disturbed ribosomal biogenesis a ects mitochondria and translates into ribosomes with a reduced translational fidelity that causes endoplasmic reticulum (ER) stress and apoptosis. Therefore, it is speculated that disease-causing disturbances in the process of ribosomal biogenesis may be more common than hitherto anticipated. ; publishedVersion |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | http://dx.doi.org/10.18725/OPARU-35438Test; https://oparu.uni-ulm.de/xmlui/123456789/35500Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-35500-9Test |
| DOI: | 10.18725/OPARU-35438 |
| الإتاحة: | https://doi.org/10.18725/OPARU-35438Test https://oparu.uni-ulm.de/xmlui/123456789/35500Test http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-35500-9Test |
| حقوق: | CC BY 4.0 International ; https://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: | edsbas.42621DC5 |
| قاعدة البيانات: | BASE |
| DOI: | 10.18725/OPARU-35438 |
|---|