Evidence map›Paper›PMID 36769246›Full record

ArticleInternational journal of molecular sciences2023

SMN Deficiency Destabilizes ABCA1 Expression in Human Fibroblasts: Novel Insights in Pathophysiology of Spinal Muscular Atrophy.

Francesca Gabanella, Annalisa Onori, Cinzia Pisani, Marco Fiore, Giampiero Ferraguti, Andrea Colizza, Marco de Vincentiis, Marco Ceccanti, Maurizio Inghilleri, Nicoletta Corbi and 2 more

Abstract read
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In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Observational
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Francesca GabanellaCNR-Institute of Biochemistry and Cell Biology, Department of Sense Organs, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy.
Annalisa OnoriCNR-Institute of Molecular Biology and Pathology, Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena 291, 00161 Rome, Italy.
Cinzia PisaniCNR-Institute of Molecular Biology and Pathology, Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena 291, 00161 Rome, Italy.
Marco FioreCNR-Institute of Biochemistry and Cell Biology, Department of Sense Organs, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy.ORCID 0000-0001-6806-9715
Giampiero FerragutiDepartment of Experimental Medicine, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy.ORCID 0000-0001-6129-4071
Andrea ColizzaDepartment of Sense Organs, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy.ORCID 0000-0002-0639-806X
Marco de VincentiisDepartment of Sense Organs, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy.
Marco CeccantiCenter for Rare Neuromuscular Diseases, Department of Human Neuroscience, Policlinico Umberto I, Sapienza University of Rome, 00185 Rome, Italy.ORCID 0000-0001-8897-3736
Maurizio InghilleriCenter for Rare Neuromuscular Diseases, Department of Human Neuroscience, Policlinico Umberto I, Sapienza University of Rome, 00185 Rome, Italy.ORCID 0000-0001-5365-3417
Nicoletta CorbiCNR-Institute of Molecular Biology and Pathology, Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena 291, 00161 Rome, Italy.ORCID 0000-0002-4505-1632
Claudio PassanantiCNR-Institute of Molecular Biology and Pathology, Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena 291, 00161 Rome, Italy.
Maria Grazia Di CertoCNR-Institute of Biochemistry and Cell Biology, Department of Sense Organs, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy.ORCID 0000-0003-1864-2274

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The deficiency of survival motor neuron protein (SMN) causes spinal muscular atrophy (SMA), a rare neuromuscular disease that affects different organs. SMN is a key player in RNA metabolism regulation. An intriguing aspect of SMN function is its relationship with plasma membrane-associated proteins. Here, we provide a first demonstration that SMN affects the ATP-binding cassette transporter A1, (ABCA1), a membrane protein critically involved in cholesterol homeostasis. In human fibroblasts, we showed that SMN associates to ABCA1 mRNA, and impacts its subcellular distribution. Consistent with the central role of ABCA1 in the efflux of free cholesterol from cells, we observed a cholesterol accumulation in SMN-depleted human fibroblasts. These results were also confirmed in SMA type I patient-derived fibroblasts. These findings not only validate the intimate connection between SMN and plasma membrane-associated proteins, but also highlight a contribution of dysregulated cholesterol efflux in SMA pathophysiology.

Indexed as

Motor NeuronsMuscular Atrophy, SpinalATP Binding Cassette Transporter 1FibroblastsHumansMembrane ProteinsSurvival of Motor Neuron 1 ProteinTranscription FactorsABCA1 protein, humanATP Binding Cassette Transporter 1Membrane ProteinsSurvival of Motor Neuron 1 ProteinTranscription FactorsABCA1cholesterolplasma membraneSMASMN

Identifiers

PMID36769246
PMCPMC9917534

What Socratic holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.