The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

Article Abstract:

Spinal muscular atrophy (SMA) is a fatal autosomal recessive disease, characterized by motor neuron degeneration and muscular atrophy. In 98% of SMA patients, the SMA disease gene is deleted or mutated, but the function of the SMN protein is not known. The disease gene was found to be strongly linked with SIP1, a novel protein, together forming a complex with several spliceosomal snRNP proteins. It interacted with several snRNP core proteins, indicating a role for SMN and SIP1 in spliceosomal snRNP biogenesis.

Observations, Proteins, Cell membranes, Developmental cytology

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Inhibition of U snRNP assembly by a virus-encoded proteinase

Article Abstract:

The death of the various motor neurons in the spiral muscular atrophy (SMA) is found to be a result of various defects occurring in assembly of spliceosomal uridine-rich small nuclear ribonucleoprotein (U snRNP) complexes by a virus-encoded proteinase. Analysis shows that defects in U snRNP are nothing but the shared features of SMA and poliomyelitis resulting in cleavage of host factor Gemin3 in substrate.

Complications and side effects, Poliomyelitis, Viral proteins, Clinical report

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Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy

Article Abstract:

Gene silencing is used to assess the effect of survival motoneuron (SMN) protein deficiency on uridine-rich small nuclear ribonucleoprotein particle (U snRNP) metabolism in living cells and organism. The finding suggests that motoneuron degeneration in spinal muscular atrophy patients is a direct consequence of impaired production of U snRNPs.

Motor neurons, Nervous system, Nerve degeneration

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