The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.

doi:10.1016/j.ajhg.2016.07.014

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

Community

Back to search

Article

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.

American journal of human genetics - 1 Sept 2016

Hosseinibarkooie Seyyedmohsen, Peters Miriam, Torres-Benito Laura, Rastetter Raphael H, Hupperich Kristina, Hoffmann Andrea, Mendoza-Ferreira Natalia, Kaczmarek Anna, Janzen Eva, Milbradt Janine, Lamkemeyer Tobias, Rigo Frank, Bennett C Frank, Guschlbauer Christoph, Büschges Ansgar, Hammerschmidt Matthias, Riessland Markus, Kye Min Jeong, Clemen Christoph S, Wirth Brunhilde

Abstract excerpt

Homozygous loss of SMN1 causes spinal muscular atrophy (SMA), the most common and devastating childhood genetic motor-neuron disease. The copy gene SMN2 produces only ∼10% functional SMN protein, insufficient to counteract development of SMA. In contrast, the human genetic modifier plastin 3 (PLS3), an actin-binding and -bundling protein, fully protects against SMA in SMN1-deleted individuals carrying 3-4 SMN2...

Read the complete abstract on PubMed

Topics

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

Share to Muscular Atrophy, Spinal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neuromuscular Junction

Share to Oligonucleotides, Antisense

Share to Presynaptic Terminals

Share to Pyridinium Compounds

Share to Quaternary Ammonium Compounds

Share to Survival of Motor Neuron 1 Protein

Share to Survival of Motor Neuron 2 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 27499521
DOI: 10.1016/j.ajhg.2016.07.014
PMCID: PMC5011078

Genes

PLS3
SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.PMID 27499521Read ↗

CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosisSemantic proximity Read ↗

Modifier genes: Moving from pathogenesis to therapy.Semantic proximity Read ↗

Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophySemantic proximity Read ↗

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular AtrophySemantic proximity Read ↗

Survival Motor Neuron Affects Plastin 3 Protein Levels Leading to Motor DefectsSemantic proximity Read ↗

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality.Semantic proximity Read ↗

Protein-stabilizing and neurotransmission-potentiating activities of a synaptic chaperone modify spinal muscular atrophy in model miceSemantic proximity Read ↗

Calcium binding is essential for plastin 3 function in Smn-deficient motoneurons.Semantic proximity Read ↗

Plastin-3 extends survival and reduces severity in mouse models of spinal muscular atrophySemantic proximity Read ↗

Plastin 3 Promotes Motor Neuron Axonal Growth and Extends Survival in a Mouse Model of Spinal Muscular AtrophySemantic proximity Read ↗

Plastin 3 in health and disease: a matter of balanceSemantic proximity Read ↗

System-Wide Proteomic Remodeling in Spinal Muscular Atrophy Reveals Tissue-Specific Responses and Partial Rescue by SMN RestorationSemantic proximity Read ↗

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