Evidence map›Paper›PMID 38195117›Full record

ArticleLife science alliance2024

CLN3 deficiency leads to neurological and metabolic perturbations during early development.

Ursula Heins-Marroquin, Randolph R Singh, Simon Perathoner, Floriane Gavotto, Carla Merino Ruiz, Myrto Patraskaki, Gemma Gomez-Giro, Felix Kleine Borgmann, Melanie Meyer, Anaïs Carpentier and 8 more

Open access · goldAbstract read
In one paragraph

Article in Life science alliance, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
5.6field-weighted citation impact, top 4% of its field
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

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Organoids for Metabolic Disease Modeling.Journal of inherited metabolic disease · 2026
    Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. 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

18 authors at 5 institutions in 5 countries.

Ursula Heins-MarroquinLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg ursula.heins-marroquin@uni.lu.ORCID https://orcid.org/0000-0003-3517-5399
Randolph R SinghLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.ORCID https://orcid.org/0000-0003-4500-3400
Simon PerathonerMax Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.ORCID https://orcid.org/0000-0003-4779-7259
Floriane GavottoLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.ORCID https://orcid.org/0000-0001-9793-3680
Carla Merino RuizInstitut d'Investigació Sanitària Pere Virgili, Tarragona, Spain.
Myrto PatraskakiLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.
Gemma Gomez-GiroLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.
Felix Kleine BorgmannNational Center of Pathology (NCP), Laboratoire national de santé (LNS), Dudelange, Luxembourg.
Melanie MeyerNational Center of Pathology (NCP), Laboratoire national de santé (LNS), Dudelange, Luxembourg.ORCID https://orcid.org/0009-0003-3110-1285
Anaïs CarpentierNational Center of Pathology (NCP), Laboratoire national de santé (LNS), Dudelange, Luxembourg.ORCID https://orcid.org/0009-0001-6871-3301
Marc O WarmoesLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.
Christian JägerLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.
Michel MittelbronnLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.
Jens C SchwambornLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.ORCID https://orcid.org/0000-0003-4496-0559
Maria Lorena Cordero-MaldonadoLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.
Alexander D CrawfordLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.
Emma L SchymanskiLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.ORCID https://orcid.org/0000-0001-6868-8145
Carole L LinsterLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg carole.linster@uni.lu.ORCID https://orcid.org/0000-0001-7143-0719
University of Luxembourg · LULaboratoire National de Santé · LUInstitut de Recerca Biomèdica Catalunya Sud · ESLuxembourg Institute of Health · LUMax Planck Institute for Heart and Lung Research · DE

Funding

True Metal fac coreP30ES009089 · NIEHS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MATTHEW S PERZANOWSKI · 1998 to 2026
$44.7M
NIEHS NIH HHS P30 ES009089
6 · The paper itself

Abstract

Juvenile neuronal ceroid lipofuscinosis (or Batten disease) is an autosomal recessive, rare neurodegenerative disorder that affects mainly children above the age of 5 yr and is most commonly caused by mutations in the highly conserved

Indexed as

Induced Pluripotent Stem CellsNeuronal Ceroid-LipofuscinosesAnimalsCholesterol EstersHumansMembrane GlycoproteinsMetabolomicsMolecular ChaperonesZebrafishCholesterol EstersCLN3 protein, humanMembrane GlycoproteinsMolecular Chaperones

Identifiers

PMID38195117
PMCPMC10776888
OpenAlexW4390691526

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.