Evidence map›Paper›PMID 40518665›Full record

ArticleMolecular therapy : the journal of the American Society of Gene Therapy2025

Blood phenylalanine lowering partially reverses white matter changes in a mouse model of phenylketonuria.

Rachna Manek, Weixiao Huang, Yinyin Huang, Lilu Guo, Cathleen S Cornell, Mohammed Salman Shazeeb, Alexander Verbitsky, Robert Jackson, Jennifer Johnson, Patricia Berthelette and 7 more

Abstract read
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In one paragraph

Article in Molecular therapy : the journal of the American Society of Gene Therapy, 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

17 authors.

Rachna ManekGenomic Medicine Unit, Sanofi, Waltham, MA, USA.
Weixiao HuangTranslational Sciences, Sanofi, Cambridge, MA, USA.
Yinyin HuangTranslational Sciences, Sanofi, Cambridge, MA, USA.
Lilu GuoTranslational Sciences, Sanofi, Cambridge, MA, USA.
Cathleen S CornellGenomic Medicine Unit, Sanofi, Waltham, MA, USA.
Mohammed Salman ShazeebGlobal Bioimaging, Sanofi, Cambridge, MA, USA.
Alexander VerbitskyGlobal Bioimaging, Sanofi, Cambridge, MA, USA.
Robert JacksonGenomic Medicine Unit, Sanofi, Waltham, MA, USA.
Jennifer JohnsonGlobal Discovery Pathology, Sanofi, Cambridge, MA, USA.
Patricia BertheletteGenomic Medicine Unit, Sanofi, Waltham, MA, USA.
Dan YuGenomic Medicine Unit, Sanofi, Waltham, MA, USA.
Edith L PfisterGenomic Medicine Unit, Sanofi, Waltham, MA, USA.
Dinesh BangariGlobal Discovery Pathology, Sanofi, Cambridge, MA, USA.
Xiaoyou YingGlobal Bioimaging, Sanofi, Cambridge, MA, USA.
Dinesh KumarTranslational Sciences, Sanofi, Cambridge, MA, USA.
Christian MuellerGenomic Medicine Unit, Sanofi, Waltham, MA, USA. Electronic address: gmu@sanofi.com.
Sirkka Kyostio-MooreGenomic Medicine Unit, Sanofi, Waltham, MA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Phenylketonuria (PKU) is a genetic defect caused by lack of the liver enzyme phenylalanine hydroxylase (PAH). This deficiency results in elevated blood phenylalanine (Phe) levels and neurotoxicity, which is manifested by reduced brain size, lower neurotransmitter levels, and reduced myelination. The goal of this study was to investigate brain myelination defects and their reversibility upon blood Phe lowering by analyzing the corpus callosum (CC) of adult Pah

Indexed as

PhenylalaninePhenylalanine HydroxylasePhenylketonuriasWhite MatterAnimalsCorpus CallosumDependovirusDisease Models, AnimalGenetic TherapyGenetic VectorsMiceMyelin SheathOligodendrogliaPhenylalaninePhenylalanine HydroxylaseAAV gene deliverybrain white matterPah(enu2) micephenylketonuriasingle-cell analysistranscriptome

Identifiers

PMID40518665
PMCPMC12432866

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.