Evidence map›Paper›PMID 41947150›Full record

ArticleJournal of neuroinflammation2026

A novel humanized mouse model exhibits neurobehavioral impairments and recapitulates key neuropathological features of infantile Tay-Sachs disease.

Lujaina Elbakr, Georgiana Forguson, Hong Anh Truong, Joshua E Hung, Wing Suen Chan, Dong-Kyu Kim, Reid A Brewer, Sydney Steiman, Toan Q Nguyen, Ajoy Vincent and 1 more

Abstract read
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In one paragraph

Article in Journal of neuroinflammation, 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

11 authors.

Lujaina Elbakr *Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, M5G0A4, Canada.
Georgiana Forguson *Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, M5G0A4, Canada.
Hong Anh TruongGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, M5G0A4, Canada.
Joshua E HungGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, M5G0A4, Canada.
Wing Suen ChanGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, M5G0A4, Canada.
Dong-Kyu KimGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, M5G0A4, Canada.
Reid A BrewerGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, M5G0A4, Canada.
Sydney SteimanGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, M5G0A4, Canada.
Toan Q NguyenGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, M5G0A4, Canada.
Ajoy VincentGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, M5G0A4, Canada.
Evgueni A IvakineGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, M5G0A4, Canada. zhenya.ivakine@sickkids.ca.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tay-Sachs disease (TSD) is a fatal lysosomal storage disorder caused by mutations in the HEXA gene which impair B-hexosaminidase A activity and result in the toxic accumulation of GM2 gangliosides. Here, we report the generation of a novel mouse model that harbors a partially humanized Hexa gene carrying c.1278insTATC, the most prevalent TSD-causing variant, and a Neu3 deficiency to circumvent a murine bypass pathway. Upon characterization, this model reflects key pathological features of TSD including significant GM2 deposition in the central nervous system (CNS), prominent astrogliosis, neuroinflammation, and exhibit progressive neurobehavioral impairments. Retinal characterization revealed widespread GM2 accumulation leading to structural changes detectable by optical tomography coherence and fundus imaging, highlighting the significance of retinal involvement in TSD. Taken together, these findings establish this model as a valuable tool for elucidating TSD pathophysiology and provides a platform for evaluating targeted therapeutic strategies in a genetically accurate and clinically relevant context.

Indexed as

Disease Models, AnimalTay-Sachs DiseaseAnimalsbeta-Hexosaminidase alpha ChainG(M2) GangliosideHumansMiceMice, Transgenicbeta-Hexosaminidase alpha ChainG(M2) GangliosideHEXA protein, humanBehaviorCRISPR/Cas9Lysosomal Storage DisorderMouse ModelMüller CellsNeuroinflammationPurkinje CellsRetinaRNA SequencingTay-Sachs Disease

Identifiers

PMID41947150
PMCPMC13214119

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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.