Evidence map›Paper›PMID 41557506›Full record

ArticleCell reports2026

Metabolic reprogramming during human neuron differentiation indicates glutaminase as a key determinant in Fragile X syndrome.

Sneha Shah, Daniel Barnes, Botao Liu, Tenzin Tseyang, Thang Do, Jodi L Bubenik, Suna Jung, Mina N Anadolu, Maria P Ivshina, Verónica Martínez-Cerdeño and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

14 authors.

Sneha ShahProgram in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA. Electronic address: sneha.shah@umassmed.edu.
Daniel BarnesProgram in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA.
Botao LiuProgram in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA.
Tenzin TseyangProgram in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA.
Thang DoProgram in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA.
Jodi L BubenikDepartment of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL 32610-3610, USA.
Suna JungProgram in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA.
Mina N AnadoluProgram in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA.
Maria P IvshinaProgram in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA.
Verónica Martínez-CerdeñoDepartment of Pathology and Laboratory Medicine, Institute for Pediatric Regenerative Medicine, Shriners Hospitals for Children of Northern California, Sacramento, CA, USA; MIND Institute at the UC Davis Medical Center, University of California, Davis, School of Medicine, Sacramento, CA, USA.
Elizabeth Berry-KravisDepartments of Pediatrics, Neurological Sciences, Anatomy and Cell Biology, RUSH Pediatric Neurosciences F.A.S.T., Center for Translational Research, Rush University Medical Center, Chicago, IL 60612, USA.
Maurice S SwansonDepartment of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL 32610-3610, USA.
Jessica B SpinelliProgram in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA.
Joel D RichterProgram in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA. Electronic address: joel.richter@umassmed.edu.

Funding

Cortical and subcortical chandelier cell pathophysiology and symptomatology in autismR01MH094681 · NIMH · UNIVERSITY OF CALIFORNIA AT DAVIS · PI Veronica Martinez-Cerdeno · 2011 to 2026
$6.5M
RNA Control of Neural FunctionR35GM149216 · NIGMS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI Joel D Richter · 2023 to 2026
$2.5M
Therapeutic Potential of Rescued FMR1 Mis-Splicing in Fragile X SyndromeR01NS132935 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI Joel D Richter · 2023 to 2026
$1.7M
Elucidating Fragile X Syndrome by Investigating FMRP Molecular FunctionR21MH134127 · NIMH · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI RICHTER, JOEL D · 2023 to 2023
$461k
NIGMS NIH HHS R35 GM149216NIMH NIH HHS R01 MH094681NIMH NIH HHS R21 MH134127NINDS NIH HHS R01 NS132935
6 · The paper itself

Abstract

Metabolic homeostasis gone awry is a contributor to, if not an underlying cause of, several neurologic disorders. Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by a trinucleotide repeat expansion in FMR1 and consequent loss of the encoded protein FMRP, which results in downstream molecular, neurologic, and mitochondrial deficits that are linked to cognitive impairment. In the human postmortem brain, many metabolites and solute carrier proteins are coordinately dysregulated, which also occurs during the differentiation of human induced pluripotent stem cells (iPSCs) into excitatory neurons. Metabolic tracing in FXS neurons demonstrates a dearth of glutamine deamidation to glutamate, which reduces anaplerosis into the TCA cycle, potentially hindering the bioenergetic and biosynthetic functions of mitochondria. Mechanistically, aberrant expression of glutaminase isoforms in FXS is responsible for reduced glutaminolysis, thereby altering glutamate levels, which may contribute to FXS.

Indexed as

Cell DifferentiationFragile X SyndromeGlutaminaseNeuronsGlutamic AcidGlutamineHumansInduced Pluripotent Stem CellsMetabolic ReprogrammingMitochondriaGlutamic AcidGlutaminaseGlutamineCP: metabolismCP: neuroscienceFragile X syndromeglutamate transportersglutaminasehuman neuronsiPSCmetabolomics

Identifiers

PMID41557506
PMCPMC12990186

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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 Socratic graph.