Evidence map›Paper›PMID 40202561›Full record

ArticleCellular and molecular life sciences : CMLS2025

Mutated sigma-1R disrupts cell homeostasis in dHMN patient cells.

Sofia Zanin, Francesco Ciscato, Antonio Petrucci, Annalisa Botta, Federico Chiossi, Giovanni Vazza, Rosario Rizzuto, Giorgia Pallafacchina

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In one paragraph

Article in Cellular and molecular life sciences : CMLS, 2025. 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. Review
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

8 authors.

Sofia ZaninLaboratory for Genetics of Mitochondrial Disorders, UMR 1163, Institut Imagine, Université de Paris, Paris, France.
Francesco CiscatoNeuroscience Institute, Italian National Research Council CNR, Padua, Italy.
Antonio PetrucciCenter for Neuromuscular and Neurological Rare Diseases, S. Camillo Forlanini Hospital, Rome, Italy.
Annalisa BottaMedical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Federico ChiossiInstitut de Recherche de Chimie, Chimie ParisTech, PSL University, CNRS, Paris, France.
Giovanni VazzaDepartment of Biology, University of Padua, Padua, Italy.
Rosario RizzutoDepartment of Biomedical Sciences, University of Padua, Padua, Italy.
Giorgia PallafacchinaNeuroscience Institute, Italian National Research Council CNR, Padua, Italy. giorgia.pallafacchina@unipd.it.ORCID http://orcid.org/0000-0001-9766-5970

Funding

AFM-Téléthon TG24333Ministero della Salute RF-2016-02363566Ministero dell'Università e della Ricerca PRIN 2020R2BP2E_002Università degli Studi di Padova BIRD161124
6 · The paper itself

Abstract

Hereditary-Motor-Neuropathies (dHMNs) are clinically and genetically heterogeneous neurological disorders characterized by degeneration of peripheral motoneurons. We previously identified two sigma-1 receptor (Sigma-1R) variants (p.E138Q; p.E150K) in dHMN Italian patients that behave as "loss-of-function" mutations in neuroblastoma cell lines. Here, we characterize the functional effects of Sigma-1R mutation in primary fibroblasts from homozygous patients bearing the E150K mutation, and matched controls, by performing biochemical, gene expression, immunofluorescence and Ca

Indexed as

HomeostasisMutationReceptors, sigmaCalciumCalcium SignalingCells, CulturedEndoplasmic ReticulumFemaleFibroblastsHumansLysosomesMaleMitochondriaMotor NeuronsSigma-1 ReceptorCalciumReceptors, sigmaSigma-1 ReceptorCa2+ signallingCellular proteostasisER-mitochondria contactsHereditary neuropathiesSigma-1R

Identifiers

PMID40202561
PMCPMC11981993

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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 OpenQuestion graph.