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Article

Essential Role for the Tudor Domain of SMN in Spliceosomal U snRNP Assembly: Implications for Spinal Muscular Atrophy

1 Dec 1999

Abstract excerpt

Spinal muscular atrophy (SMA) is a neurodegenerative disease of spinal motor neurons caused by reduced levels of functional survival of motor neurons (SMN) protein. SMN is part of a macromolecular complex that contains the SMN-interacting protein 1 (SIP1) and spliceosomal Sm proteins. Although it is clear that SIP1 as a component of this complex is essential for spliceosomal uridine-rich small ribonucleoprotein...

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PMID: 10556282
DOI: 10.1093/hmg/8.13.2351

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Essential Role for the Tudor Domain of SMN in Spliceosomal U snRNP Assembly: Implications for Spinal Muscular AtrophyPMID 10556282Read ↗

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The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis.Semantic proximity Read ↗

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A Comprehensive Interaction Map of the Human Survival of Motor Neuron (SMN) ComplexSemantic proximity Read ↗

Direct Interaction of the Spinal Muscular Atrophy Disease Protein SMN with the Small Nucleolar RNA-associated Protein FibrillarinSemantic proximity Read ↗

The Spinal Muscular Atrophy Disease Gene Product, SMN, and Its Associated Protein SIP1 Are in a Complex with Spliceosomal snRNP ProteinsSemantic proximity Read ↗

Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy.Semantic proximity Read ↗

Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular DysfunctionSemantic proximity Read ↗

SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.Semantic proximity Read ↗

Specific Sequences of the Sm and Sm-like (Lsm) Proteins Mediate Their Interaction with the Spinal Muscular Atrophy Disease Gene Product (SMN)Semantic proximity Read ↗

SMN and Gemins: ‘We are family’ … or are we?Semantic proximity Read ↗

SMA mutations in SMN Tudor and C-terminal domains destabilize the protein.Semantic proximity Read ↗

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