Evidence map›Paper›PMID 40507848›Full record

ArticleInternational journal of molecular sciences2025

Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics.

Betül Teker, Gökce Akan, Hasan Hüseyin Kazan, Özge Özgen, Suzin Tatonyan, Mehmet Cihan Balci, Meryem Karaca, Fulya Kurekci, Edibe Pembegül Yıldız, Olcay Güngor and 5 more

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Betül TekerInstitute of Health Sciences, Istanbul University, 34452 Fatih, Türkiye.
Gökce AkanResearch Center of Experimental Health Sciences, Near East University, 99138 Mersin, Türkiye.
Hasan Hüseyin KazanDepartment of Medical Biology, Gulhane Faculty of Medicine, University of Health Sciences, 06018 Ankara, Türkiye.
Özge ÖzgenRare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.
Suzin TatonyanInstitute of Health Sciences, Istanbul University, 34452 Fatih, Türkiye.ORCID 0009-0009-4401-896X
Mehmet Cihan BalciRare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.
Meryem KaracaRare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.
Fulya KurekciDivision of Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.
Edibe Pembegül YıldızDivision of Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.
Olcay GüngorNeurology Unit, Department of Pediatrics, Pamukkale University, 20160 Pamukkale, Türkiye.
Adnan DenizRare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.
Asuman GedikbasiDepartment of Pediatric Basic Sciences, Institute of Child Health, Istanbul University, 34452 Fatih, Türkiye.ORCID 0000-0001-7121-6077
Fatmahan AtalarRare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.ORCID 0000-0002-1793-9220
Gülden Fatma GokcayRare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.ORCID 0000-0003-3726-5726
Mehves PodaRare Diseases Research Laboratory, Istanbul Medical Faculty, Istanbul University, 34452 Fatih, Türkiye.ORCID 0000-0002-1957-6072

Funding

Istanbul University ADEP grant (39456)
6 · The paper itself

Abstract

CLN2 disease (neuronal ceroid lipofuscinosis type 2) is an ultra-rare lysosomal storage disorder caused by mutations in the TPP1/CLN2 gene, resulting in impaired tripeptidyl peptidase 1 (TPP1) activity. The timely initiation of enzyme replacement therapy is pivotal for attenuating progressive and irreversible neurodegeneration. This study aimed to benchmark the performance of Oxford Nanopore long-read sequencing (ONT-LRS) for targeted

Indexed as

AminopeptidasesDipeptidyl-Peptidases and Tripeptidyl-PeptidasesGenomicsMutationNanopore SequencingNeuronal Ceroid-LipofuscinosesSerine ProteasesAdolescentAdultBenchmarkingChildChild, PreschoolFemaleHumansMaleMiddle AgedAminopeptidasesDipeptidyl-Peptidases and Tripeptidyl-PeptidasesSerine ProteasesTPP1 protein, humanTpp1 protein, ratTripeptidyl-Peptidase 1CLN2comprehensive careDNA sequencinglong-read sequencingTPP1TPP1 enzyme activity

Identifiers

PMID40507848
PMCPMC12155472

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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.