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

A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels

16 Mar 2005

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by homozygous loss of the survival motor neuron (SMN1) gene. In virtually all SMA patients, a nearly identical copy gene is present, SMN2. SMN2 cannot fully compensate for the loss of SMN1 because the majority of transcripts derived from SMN2 lack a critical exon (exon 7), resulting in a dysfunctional SMN protein. Therefore, the critical distinction between a functional and...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Anomalies and Fetal Surgery
Share to Neurogenetic and Muscular Disorders Research
Share to RNA modifications and cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 15790598
DOI: 10.1093/hmg/ddi131

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levelsPMID 15790598Read ↗

Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivoSemantic proximity Read ↗

Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal modelSemantic proximity Read ↗

Subcutaneous administration of TC007 reduces disease severity in an animal model of SMASemantic proximity Read ↗

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.Semantic proximity Read ↗

The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization.Semantic proximity Read ↗

Tetracyclines That Promote SMN2 Exon 7 Splicing as Therapeutics for Spinal Muscular AtrophySemantic proximity Read ↗

A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity.Semantic proximity Read ↗

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.Semantic proximity Read ↗

SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMNSemantic proximity Read ↗

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.Semantic proximity Read ↗

Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs.Semantic proximity Read ↗

A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular AtrophySemantic proximity Read ↗

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