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

SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy

11 Nov 2013

Abstract excerpt

Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease affecting lower motor neurons. SMA is caused by mutations in the Survival Motor Neuron 1 (SMN1) gene, which result in reduced levels of functional SMN protein. Biochemical studies have linked the ubiquitously expressed SMN protein to the assembly of pre-mRNA processing U snRNPs, raising the possibility that aberrant splicing is a major...

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: 24218366
DOI: 10.1093/hmg/ddt567

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophyPMID 24218366Read ↗

Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophySemantic proximity Read ↗

Transcriptome Profiling of Spinal Muscular Atrophy Motor Neurons Derived from Mouse Embryonic Stem CellsSemantic proximity Read ↗

Generation and Characterization of a genetic zebrafish model of SMA carrying the human SMN2geneSemantic proximity Read ↗

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

Tissue-specific models of spinal muscular atrophy confirm a critical role of SMN in motor neurons from embryonic to adult stagesSemantic proximity Read ↗

A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle.Semantic proximity Read ↗

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

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophySemantic proximity Read ↗

Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophySemantic proximity Read ↗

Disease mechanisms and therapeutic approaches in spinal muscular atrophy.Semantic proximity Read ↗

Mitochondrial Dysfunction in Spinal Muscular AtrophySemantic proximity Read ↗

Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects.Semantic proximity Read ↗

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