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This unexpected phenotype may relate to two main cellular defects.
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The primary cellular defect (abnormal cilia motility) is reproducibly seen in these models as immotile cilia.
We further demonstrate that increasing Oxr1 levels in cells expressing specific Fus and Tdp-43 mutants improves the three main cellular features associated with ALS: cytoplasmic mis-localization and aggregation, splicing changes of a mitochondrial gene and mitochondrial defects.
The underlying cellular defects appear to be related to improper neuronal migration during early prenatal development.
Figure 1 The main cellular processes.
How such genetic alterations translate to cellular defects and generate such diverse disease phenotypes remains enigmatic.
While characterized by reduced serum IgG and IgA and often IgM, and thus classified among the B-cell defects, numbers of cellular defects have been recognized over time.
Mitochondria are main cellular source for energy in eukaryotic cells.
In this case, cellular defects related to "normal" aging would not "accelerate" degeneration in HD.
In reaction to retinal damage or cellular defects, retinal Müller glial cells become activated.
Fibroblasts represent the main cellular population of the dermis.
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