The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy. [electronic resource]
- Human molecular genetics Apr 2009
- 1181-9 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1460-2083
10.1093/hmg/ddp009 doi
Animals COS Cells Cell Nucleus--metabolism Chlorocebus aethiops Coiled Bodies--metabolism Fibroblasts--metabolism Humans Molecular Chaperones--metabolism Muscular Atrophy, Spinal--metabolism Mutant Proteins--metabolism Nuclear Proteins--metabolism Phosphoproteins--metabolism Protein Transport RNA Interference Ribonucleoproteins, Small Nucleolar--metabolism Survival of Motor Neuron 1 Protein--metabolism