Evidence map›Paper›PMID 40397740›Full record

ArticleScience advances2025

Neuronal lipofuscinosis caused by Kufs disease/CLN4 DNAJC5 mutations but not by a CSPα/DNAJC5 deficiency.

Santiago López-Begines, Nozha Borjini, Ángela Lavado-Roldán, Cristina Mesa-Cruz, Fabiola Mavillard, Vera I Wiersma, Fátima Rubio-Pastor, Emanuela Tumini, Carmen Paradela-Leal, María L Chiclana-Valcárcel and 5 more

Abstract read
In one paragraph

Article in Science advances, 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

15 authors.

Santiago López-BeginesInstituto de Biomedicina de Sevilla (IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla), Departamento de Fisiología Médica y Biofísica, Facultad de Medicina, and CIBERNED ISCIII, Seville, Spain.ORCID 0000-0001-8809-8919
Nozha BorjiniInstituto de Biomedicina de Sevilla (IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla), Departamento de Fisiología Médica y Biofísica, Facultad de Medicina, and CIBERNED ISCIII, Seville, Spain.ORCID 0000-0003-3729-2521
Ángela Lavado-RoldánInstituto de Biomedicina de Sevilla (IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla), Departamento de Fisiología Médica y Biofísica, Facultad de Medicina, and CIBERNED ISCIII, Seville, Spain.ORCID 0000-0003-1281-9139
Cristina Mesa-CruzInstituto de Biomedicina de Sevilla (IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla), Departamento de Fisiología Médica y Biofísica, Facultad de Medicina, and CIBERNED ISCIII, Seville, Spain.ORCID 0000-0003-0751-8593
Fabiola MavillardInstituto de Biomedicina de Sevilla (IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla), Departamento de Fisiología Médica y Biofísica, Facultad de Medicina, and CIBERNED ISCIII, Seville, Spain.ORCID 0000-0002-1460-0483
Vera I WiersmaSynaptic Structure Laboratory, Instituto de Investigación en Discapacidades Neurológicas (IDINE), Departamento de Ciencias Médicas, Facultad de Medicina, Universidad Castilla-La Mancha, Albacete, Spain.ORCID 0000-0001-8223-4588
Fátima Rubio-PastorInstituto de Biomedicina de Sevilla (IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla), Departamento de Fisiología Médica y Biofísica, Facultad de Medicina, and CIBERNED ISCIII, Seville, Spain.ORCID 0000-0002-4772-6525
Emanuela TuminiInstituto de Biomedicina de Sevilla (IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla), Departamento de Fisiología Médica y Biofísica, Facultad de Medicina, and CIBERNED ISCIII, Seville, Spain.ORCID 0000-0001-9412-9355
Carmen Paradela-LealInstituto de Biomedicina de Sevilla (IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla), Departamento de Fisiología Médica y Biofísica, Facultad de Medicina, and CIBERNED ISCIII, Seville, Spain.ORCID 0000-0001-7728-6308
María L Chiclana-ValcárcelInstituto de Biomedicina de Sevilla (IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla), Departamento de Fisiología Médica y Biofísica, Facultad de Medicina, and CIBERNED ISCIII, Seville, Spain.ORCID 0009-0001-6048-9827
Carolina AguadoSynaptic Structure Laboratory, Instituto de Investigación en Discapacidades Neurológicas (IDINE), Departamento de Ciencias Médicas, Facultad de Medicina, Universidad Castilla-La Mancha, Albacete, Spain.ORCID 0000-0003-0265-8124
Rafael LujánSynaptic Structure Laboratory, Instituto de Investigación en Discapacidades Neurológicas (IDINE), Departamento de Ciencias Médicas, Facultad de Medicina, Universidad Castilla-La Mancha, Albacete, Spain.ORCID 0000-0003-2001-9545
Wiep ScheperAmsterdam University Medical Centers-location Vrije Univeristeit, Department of Human Genetics; Center for Neurogenomics and Cognitive Research, Department of Functional Genomics, Vrije Universiteit and Amsterdam Neuroscience Neurodegeneration, Amsterdam, Netherlands.ORCID 0000-0002-1431-4559
José L Nieto-GonzálezInstituto de Biomedicina de Sevilla (IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla), Departamento de Fisiología Médica y Biofísica, Facultad de Medicina, and CIBERNED ISCIII, Seville, Spain.ORCID 0000-0003-1757-4951
Rafael Fernández-ChacónInstituto de Biomedicina de Sevilla (IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla), Departamento de Fisiología Médica y Biofísica, Facultad de Medicina, and CIBERNED ISCIII, Seville, Spain.ORCID 0000-0002-9845-9885

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Kufs disease/CLN4 is an autosomal dominant neurodegenerative disorder caused by unknown mechanisms through Leu

Indexed as

HSP40 Heat-Shock ProteinsMembrane ProteinsMutationNeuronal Ceroid-LipofuscinosesAnimalsDisease Models, AnimalHumansMiceMice, KnockoutMice, TransgenicNeuronscysteine string proteinHSP40 Heat-Shock ProteinsMembrane Proteins

Identifiers

PMID40397740
PMCPMC12094229

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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.