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

How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?

PloS one - 1 Jan 2017

Li Wei

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with dysfunctional α-motor neurons in the anterior horn of the spinal cord. SMA is caused by loss (∼95% of SMA cases) or mutation (∼5% of SMA cases) of the survival motor neuron 1 gene SMN1. As the product of SMN1, SMN is a component of the SMN complex, and is also involved in the biosynthesis of the small nuclear ribonucleoproteins...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to SMN1 gene
Share to Muscular Atrophy, Spinal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Neurogenetic and Muscular Disorders Research

Share to Ribonucleoproteins, Small Nuclear

Share to Static Electricity

Share to Survival of Motor Neuron 1 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 28570645
DOI: 10.1371/journal.pone.0178519
PMCID: PMC5453535

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?PMID 28570645Read ↗

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

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

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

What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective.Semantic proximity Read ↗

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

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.Semantic proximity Read ↗

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

In Search of Spinal Muscular Atrophy Disease ModifiersSemantic proximity Read ↗

SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblastsSemantic proximity Read ↗

Solving the puzzle of spinal muscular atrophy: What are the missing pieces?Semantic proximity Read ↗

Gemins modulate the expression and activity of the SMN complexSemantic proximity Read ↗

The Biochemistry of Survival Motor Neuron Protein Is Paving the Way to Novel Therapies for Spinal Muscle Atrophy.Semantic proximity Read ↗

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