Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient

23 Nov 2010

Abstract excerpt

The survival of motor neuron (SMN) protein is essential for cytoplasmic assembly of spliceosomal snRNPs. Although the normal proportion of endogenous snRNAs is unevenly altered in spinal muscular atrophy (SMA) tissues, the biogenesis of individual snRNPs is not dramatically affected in SMN-deficient cells. The SMN protein is also required for normal Cajal body (CB) formation, but the functional consequences of CB...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Neurogenetic and Muscular Disorders Research
Share to RNA modifications and cancer
Share to RNA Research and Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 21098506
DOI: 10.1093/hmg/ddq508

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patientPMID 21098506Read ↗

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

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent intronsSemantic proximity Read ↗

SMN in spinal muscular atrophy and snRNP biogenesisSemantic proximity Read ↗

Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs.Semantic proximity Read ↗

Minor snRNA gene delivery improves the loss of proprioceptive synapses on SMA motor neuronsSemantic proximity Read ↗

SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3′-End Formation of Histone mRNAsSemantic proximity Read ↗

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

Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteinsSemantic proximity Read ↗

The SMN Complex at the Crossroad between RNA Metabolism and NeurodegenerationSemantic proximity Read ↗

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

Genome-wide identification of mRNAs associated with the protein SMN whose depletion decreases their axonal localizationSemantic proximity Read ↗

A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.