Evidence map›Paper›PMID 31568712›Full record

ReviewMolecular genetics & genomic medicine2019

The CLN3 gene and protein: What we know.

Myriam Mirza, Anna Vainshtein, Alberto DiRonza, Uma Chandrachud, Luke J Haslett, Michela Palmieri, Stephan Storch, Janos Groh, Niv Dobzinski, Gennaro Napolitano and 2 more

Open access · goldAbstract readReview
In one paragraph

Review in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.

0numbers the graph read from it
0cells of the map it votes in
49citing papers in PubMed
4.8field-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

49 citing papers in PubMed, 72 citations in OpenAlex.

  1. Review
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  8. Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease.International journal of molecular sciences · 2025
    Review
  9. Article
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  12. Article
  13. A recessiveJournal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc · 2024
    Article
  14. Article
  15. Review
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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 at 9 institutions in 5 countries.

Myriam MirzaMila's Miracle Foundation, Boulder, Colorado.
Anna VainshteinCraft Science Inc., Thornhill, Canada.
Alberto DiRonzaBaylor College of Medicine, Houston, Texas.
Uma ChandrachudCenter for Genomic Medicine, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts.
Luke J HaslettSchool of Biosciences, Cardiff University, Cardiff, UK.
Michela PalmieriBaylor College of Medicine, Houston, Texas.
Stephan StorchBiochemistry, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Janos GrohNeurology, University Hospital Wuerzburg, Wuerzburg, Germany.
Niv DobzinskiBiochemistry and Biophysics, UCSF School of Medicine, San Francisco, California.
Gennaro NapolitanoTelethon Institute of Genetics and Medicine, Napoli, Italy.
Carolin SchmidtkeBiochemistry, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Danielle M KerkovichBeyond Batten Disease Foundation, Austin, Texas.ORCID 0000-0002-0215-2054
Baylor College of Medicine · USUniversität Hamburg · DEBeyond Batten Disease Foundation · USCardiff University · GBHarvard University · USTelethon Institute Of Genetics And Medicine · ITThornhill Medical (Canada) · CAUniversitätsklinikum Würzburg · DEUniversity of California, San Francisco · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundOne of the most important steps taken by Beyond Batten Disease Foundation in our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science. We believe that a strong understanding of where we are in our experimental understanding of the CLN3 gene, its regulation, gene product, protein structure, tissue distribution, biomarker use, and pathological responses to its deficiency, lays the groundwork for determining therapeutic action plans.

objectivesTo present an unbiased comprehensive reference tool of the experimental understanding of the CLN3 gene and gene product of the same name.

methodsBBDF compiled all of the available CLN3 gene and protein data from biological databases, repositories of federally and privately funded projects, patent and trademark offices, science and technology journals, industrial drug and pipeline reports as well as clinical trial reports and with painstaking precision, validated the information together with experts in Batten disease, lysosomal storage disease, lysosome/endosome biology.

resultsThe finished product is an indexed review of the CLN3 gene and protein which is not limited in page size or number of references, references all available primary experiments, and does not draw conclusions for the reader.

conclusionsRevisiting the experimental history of a target gene and its product ensures that inaccuracies and contradictions come to light, long-held beliefs and assumptions continue to be challenged, and information that was previously deemed inconsequential gets a second look. Compiling the information into one manuscript with all appropriate primary references provides quick clues to which studies have been completed under which conditions and what information has been reported. This compendium does not seek to replace original articles or subtopic reviews but provides an historical roadmap to completed works.

Indexed as

BiomarkersGene Expression RegulationHumansLysosomal Storage DiseasesLysosomesMembrane GlycoproteinsMolecular ChaperonesMutationNeuronal Ceroid-LipofuscinosesTissue DistributionBiomarkersCLN3 protein, humanMembrane GlycoproteinsMolecular ChaperonesBattenCLN3JNCLjuvenile Battenneuronal ceroid lipofuscinosis

Identifiers

PMID31568712
PMCPMC6900386
OpenAlexW2978417493

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.