Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes.
A key aspect of cellular function is the proper assembly and utilization of ribonucleoproteins (RNPs). Recent studies have shown that hyper- or hypo-assembly of various RNPs can lead to human diseases. Defects in the formation of RNPs lead to 'RNP hypo-assembly diseases', which can be caused by RNA degradation outcompeting RNP assembly. By contrast, excess RNP assembly, either in higher order RNP granules, or due to the expression of repeat-containing RNAs, can lead to 'RNP hyper-assembly diseases'. Here, we discuss the most recent advances in understanding the cause of disease onset, as well as potential therapies from the aspect of modulating RNP assembly in the cell, which presents a novel route to the treatment of these diseases.
Department of Chemistry and Biochemistry, University of Colorado Boulder, Boulder, CO, USA.
Siddharth
S
Shukla
Department of Chemistry and Biochemistry, University of Colorado Boulder, Boulder, CO, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA. Electronic address: roy.parker@colorado.edu.
Roy
R
Parker
D000818:Animals; D004392:Dwarfism / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D019871:Dyskeratosis Congenita / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D005317:Fetal Growth Retardation / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006197:Hair / Q000002:abnormalities / Q000378:metabolism / Q000473:pathology; D006627:Hirschsprung Disease / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D059609:Mallory Bodies / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008831:Microcephaly / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D009134:Muscular Atrophy, Spinal / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D010009:Osteochondrodysplasias / Q000151:congenital / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D010300:Parkinson Disease / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D000081207:Primary Immunodeficiency Diseases; D020871:RNA Stability; D012261:Ribonucleoproteins / Q000032:analysis / Q000235:genetics / Q000378:metabolism*; D012600:Scoliosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D058494:Walker-Warburg Syndrome / Q000235:genetics / Q000378:metabolism / Q000473:pathology
D012261:Ribonucleoproteins
RNA quality control; RNP assembly; dyskeratosis congenita; spinal muscular atrophy; stress granules; therapy