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

Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy

16 May 2018

Abstract excerpt

Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by deleterious variants in SMN1 that lead to a marked decrease in survival motor neuron (SMN) protein expression. Humans have a second SMN gene (SMN2) that is almost identical to SMN1. However, due to alternative splicing the majority of SMN2 messenger ribonucleic acid (mRNA) is translated into a truncated, unstable protein that is quickly...

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: 29790918
DOI: 10.1093/hmg/ddy195

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophyPMID 29790918Read ↗

Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy.Semantic proximity Read ↗

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

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophySemantic proximity Read ↗

Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA).Semantic proximity Read ↗

A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology.Semantic proximity Read ↗

Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular AtrophySemantic proximity Read ↗

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophySemantic proximity Read ↗

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.Semantic proximity Read ↗

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

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

Immune dysregulation may contribute to disease pathogenesis in spinal muscular atrophy miceSemantic proximity Read ↗

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