Evidence map›Paper›PMID 41691085›Full record

ArticleCommunications biology2026

Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy.

Francesca Bertino, Diletta Isabella Zanin Venturini, Eleonora Grasso, Joanna Kopecka, Chiara Salio, Barbara Gnutti, Ram Manohar Basnet, Stefania Bellini, Luca Mignani, Boxun Zhao and 24 more

Abstract read
In one paragraph

Article in Communications biology, 2026. 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

34 authors.

Francesca Bertino *Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center "Guido Tarone", University of Torino, Turin, Italy.
Diletta Isabella Zanin Venturini *Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center "Guido Tarone", University of Torino, Turin, Italy.
Eleonora GrassoDepartment of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center "Guido Tarone", University of Torino, Turin, Italy.
Joanna KopeckaDepartment of Oncology, Molecular Biotechnology Center, University of Torino, Turin, Italy.
Chiara SalioDepartment of Veterinary Sciences, University of Torino, Largo Braccini 2, Grugliasco, Turin, Italy.ORCID http://orcid.org/0000-0002-4956-3563
Barbara GnuttiSection of Biotechnology, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.ORCID http://orcid.org/0000-0001-8583-2583
Ram Manohar BasnetSection of Biotechnology, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.ORCID http://orcid.org/0009-0002-9112-4676
Stefania BelliniDepartment of Medical Sciences, University of Torino, Turin, Italy.
Luca MignaniSection of Biotechnology, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Boxun ZhaoDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-2337-5756
Felix KleefeldCharité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health (BIH), Department of Neurology, Charitéplatz 1, Berlin, Germany.
Andreas HentschelLeibniz-Institut für Analytische Wissenschaften-ISAS-e.V., Dortmund, Germany.
Francesca MagnaniDepartment of Biology and Biotechnology "Lazzaro Spallanzani", University of Pavia, Pavia, Italy.
Veronica FioritoDepartment of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center "Guido Tarone", University of Torino, Turin, Italy.ORCID http://orcid.org/0000-0001-9063-7918
Raluca Elena AbalaiDepartment of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center "Guido Tarone", University of Torino, Turin, Italy.
Livia MetaniDepartment of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center "Guido Tarone", University of Torino, Turin, Italy.
Anna Lucia AlloccoDepartment of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center "Guido Tarone", University of Torino, Turin, Italy.
Sara PetrilloDepartment of Life Sciences and Systems Biology, Molecular Biotechnology Center "Guido Tarone", University of Torino, Turin, Italy.
Francesco De GiorgioDepartment of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center "Guido Tarone", University of Torino, Turin, Italy.
Giorgia AmmirataDepartment of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center "Guido Tarone", University of Torino, Turin, Italy.
Ettore SalsanoUnit of Rare Neurological Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Davide PareysonUnit of Rare Neurological Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.ORCID http://orcid.org/0000-0001-6854-765X
Maja di RoccoDepartment of Pediatrics, Unit of Rare Diseases, Giannina Gaslini Institute, Genova, Italy.
Angela AbichtMedical Genetics Center, Munich, Germany.
Emily McCourtUniversity of Colorado, Department of ophthalmology 1675 Aurora ct., Aurora, CO, USA.
Rita HorvathDepartment of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Heike KölbelDepartment of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Clinic Essen, Essen, Germany.
Austin LarsonDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA.
Andreas RoosDepartment of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Clinic Essen, Essen, Germany.
Timothy W YuDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-2988-7701
Dario FinazziSection of Biotechnology, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.ORCID http://orcid.org/0000-0001-5176-2839
Chiara RigantiDepartment of Oncology, Molecular Biotechnology Center, University of Torino, Turin, Italy.
Emanuela TolosanoDepartment of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center "Guido Tarone", University of Torino, Turin, Italy.ORCID http://orcid.org/0000-0002-1622-2340
Deborah ChiabrandoDepartment of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center "Guido Tarone", University of Torino, Turin, Italy. deborah.chiabrando@unito.it.ORCID http://orcid.org/0000-0002-8968-8029

Funding

Associazione Italiana per la Ricerca sul Cancro (Italian Association for Cancer Research) IG24922Fondazione Telethon (Telethon Foundation) GMR22T1076Ministero dell'Istruzione, dell'Università e della Ricerca (Ministry of Education, University and Research) PRINMinistero dell'Istruzione, dell'Università e della Ricerca (Ministry of Education, University and Research) PRIN 2022PX3SR3Università degli Studi di Torino (University of Turin) Ricerca Locale
6 · The paper itself

Abstract

Genetic pain loss disorders represent a heterogeneous group of rare diseases mainly characterized by defective nociception. Understanding the underlying molecular mechanism is fundamental to improve the treatment of patients affected by these rare disorders. Feline Leukemia Virus Subgroup C Receptor 1 (FLVCR1) is one of the genes previously associated with sensory neuropathy that requires further investigation. Here, we report on two additional patients with novel disease-causing variants in FLVCR1 and introduce a zebrafish model of the disease. The analyses of patient-derived fibroblasts show that distinct FLVCR1 variants compromised all the known functions associated with FLVCR1, thus affecting choline levels, heme biosynthesis and mitochondrial Ca

Indexed as

Energy MetabolismMembrane Transport ProteinsMitochondriaReceptors, VirusAnimalsFemaleFibroblastsHumansMutationZebrafishFLVCR1 protein, humanMembrane Transport ProteinsReceptors, Virus

Identifiers

PMID41691085
PMCPMC13018290

What OpenQuestion holds

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LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.