Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have combined genetic and biochemical approaches to analyze the function of the RNA-binding protein Nova-1, the paraneoplastic opsoclonus-myoclonus ataxia (POMA) antigen. Nova-1 null mice die postnatally from a motor deficit associated with apoptotic death of spinal and brainstem neurons. Nova-1 null mice show specific splicing defects in two inhibitory receptor pre-mRNAs, glycine alpha2 exon 3A (GlyRalpha2 E3A) and GABA(A) exon gamma2L. Nova protein in brain extracts specifically bound to a previously identified GlyRalpha2 intronic (UCAUY)3 Nova target sequence, and Nova-1 acted directly on this element to increase E3A splicing in cotransfection assays. We conclude that Nova-1 binds RNA in a sequence-specific manner to regulate neuronal pre-mRNA alternative splicing; the defect in splicing in Nova-1 null mice provides a model for understanding the motor dysfunction in POMA.
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PMID:Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability. 1071 79

Several antineuronal antibodies are associated with paraneoplastic cerebellar degeneration. Anti-Ri is one of these antibodies in some cases but it is more commonly associated with paraneoplastic opsoclonus myoclonus in the context of gynecological neoplasia. Anti-Ri autoantibodies are thought to be directed against onconeural antigens, NOVA-1 and NOVA-2, that are expressed by the tumor as well as by neurons. The results of the treatment of both syndromes have been disappointing, although aggressive multimodality immunosuppressive treatments have been used. There are few cases of anti-Ri paraneoplastic cerebellar degeneration and none has been pathologically studied. We report the pathological study of a patient who died from anti-Ri-positive paraneoplastic cerebellar degeneration associated with breast cancer only confirmed at autopsy.
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PMID:Anti-Ri-associated paraneoplastic cerebellar degeneration and breast cancer: an autopsy case study. 1870 Dec 8

Neuro-oncological ventral antigen 1 (Nova1) is a neuron-specific RNA-binding protein in human paraneoplastic opsoclonus-myoclonus ataxia accompanying with malignant tumors, but its role in hepatocellular carcinoma (HCC) remains elusive. In this study, we found that overexpressed intratumoral Nova1 was associated with poor survival rate and increased recurrence rate of HCC, especially early recurrence, and was an independent prognostic factor for overall survival rate and tumor recurrence. HCC cell lines over-expressing Nova1 exhibited greater potentials in cell proliferation, invasion and migration, while knockdown of Nova1 had the opposite effects. All these findings indicate that Nova1 may act as a prognostic marker for poor outcome and high recurrence in HCC.
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PMID:High expression of neuro-oncological ventral antigen 1 correlates with poor prognosis in hepatocellular carcinoma. 2460 71