Evidence map›Paper›PMID 41977510›Full record

ArticleInternational journal of molecular sciences2026

Liver-Targeted AAV-DJ-hCBS Therapy Achieves Long-Term Correction of Metabolic Imbalance in CBS-Deficient Mice.

Christian P Joschko, Chih-Chieh Wang, Azuwerus van Buiten, Maaike Goris, Femke Hoogstra-Berends, Joy Wang, Jan Henric Bacurio, Yinxing Chen, Nannan Jia, June Deng and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2026. 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.

Christian P JoschkoClinical Pharmacy and Pharmacology, University Medical Center Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands.ORCID 0000-0003-2267-5108
Chih-Chieh WangAlexion Pharmaceuticals, AstraZeneca Rare Disease, Genomic Medicine, 100 Binney Street, Cambridge, MA 02142, USA.
Azuwerus van BuitenClinical Pharmacy and Pharmacology, University Medical Center Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands.
Maaike GorisClinical Pharmacy and Pharmacology, University Medical Center Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands.
Femke Hoogstra-BerendsClinical Pharmacy and Pharmacology, University Medical Center Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands.
Joy WangAlexion Pharmaceuticals, AstraZeneca Rare Disease, Genomic Medicine, 100 Binney Street, Cambridge, MA 02142, USA.
Jan Henric BacurioAlexion Pharmaceuticals, AstraZeneca Rare Disease, Genomic Medicine, 100 Binney Street, Cambridge, MA 02142, USA.ORCID 0000-0002-9780-7438
Yinxing ChenAlexion Pharmaceuticals, AstraZeneca Rare Disease, Genomic Medicine, 100 Binney Street, Cambridge, MA 02142, USA.
Nannan JiaAlexion Pharmaceuticals, AstraZeneca Rare Disease, Genomic Medicine, 100 Binney Street, Cambridge, MA 02142, USA.
June DengAlexion Pharmaceuticals, AstraZeneca Rare Disease, Genomic Medicine, 100 Binney Street, Cambridge, MA 02142, USA.
Shiliang HuAlexion Pharmaceuticals, AstraZeneca Rare Disease, Genomic Medicine, 100 Binney Street, Cambridge, MA 02142, USA.
Mariana NachtAlexion Pharmaceuticals, AstraZeneca Rare Disease, Genomic Medicine, 100 Binney Street, Cambridge, MA 02142, USA.
Matthew J ChioccoAlexion Pharmaceuticals, AstraZeneca Rare Disease, Genomic Medicine, 100 Binney Street, Cambridge, MA 02142, USA.
Robert H HenningClinical Pharmacy and Pharmacology, University Medical Center Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands.ORCID 0000-0002-5135-4621
Leo E DeelmanClinical Pharmacy and Pharmacology, University Medical Center Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands.

Funding

University Medical Center Groningen 124533
6 · The paper itself

Abstract

Cystathionine β-synthase (CBS) deficiency causes classical homocystinuria with severe hyperhomocysteinemia (HHcy) that is inadequately controlled by current therapies. We tested whether liver-targeted CBS gene therapy provides durable biochemical and phenotypic rescue. Using a Cre-inducible adult mouse model of whole-body CBS loss, a single intravenous dose of AAV-DJ-hCBS (3 × 10

Indexed as

Cystathionine beta-SynthaseDependovirusGenetic TherapyHomocystinuriaLiverAnimalsDisease Models, AnimalGene Therapy AgentsGenetic VectorsHyperhomocysteinemiaMetabolomicsMiceCystathionine beta-Synthaseadeno-associated viruscystathionine β-synthasegene therapyhomocystinuriahyperhomocysteinemiamethylationmulti-omicstranssulfuration

Identifiers

PMID41977510
PMCPMC13073810

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.