Evidence map›Paper›PMID 42509760›Full record

ArticleBiomolecules2026

Hexosamine Pathway Disruption by GFPT1 Loss Drives Coordinated Defects in Glycosylation, Autophagy, and Trafficking.

Stephen H Holland, Ricardo Carmona-Martinez, Andreas Hentschel, Alexa Derksen, Kaela O'Connor, Daniel O'Neil, Kelly Ho, Stephen D Baird, Andreas Roos, Sally Spendiff and 1 more

Abstract read
In one paragraph

Article in Biomolecules, 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.

Stephen H HollandChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.ORCID 0000-0002-0102-3912
Ricardo Carmona-MartinezChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.
Andreas HentschelLeibniz-Institute for Analytical Sciences-ISAS-e.V, 44139 Dortmund, Germany.ORCID 0000-0002-0272-9220
Alexa DerksenChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.ORCID 0000-0001-7862-4890
Kaela O'ConnorChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.ORCID 0009-0008-5784-2619
Daniel O'NeilChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.ORCID 0000-0002-9978-0101
Kelly HoChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.
Stephen D BairdChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.
Andreas RoosChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.ORCID 0000-0003-2833-0928
Sally SpendiffChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.ORCID 0000-0001-9579-3514
Hanns LochmüllerChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.ORCID 0000-0003-2324-8001

Funding

Canada First Research Excellence Fund CFREF-2022-00007CIHR CFI-JELF 38412CIHR ERT-174211CIHR FDN-167281European Commission 101080249
6 · The paper itself

Abstract

Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1), the rate-limiting enzyme of the hexosamine biosynthetic pathway (HBP), provides the UDP-N-acetylglucosamine (UDP-GlcNAc) required for protein glycosylation. Biallelic mutations in

Indexed as

AutophagyGlutamine-Fructose-6-Phosphate Transaminase (Isomerizing)HexosaminesAnimalsEndoplasmic Reticulum StressGlycosylationHumansMiceMice, KnockoutMyoblastsProtein TransportGfpt1 protein, mouseGlutamine-Fructose-6-Phosphate Transaminase (Isomerizing)Hexosaminesautophagycongenital myasthenic syndromeGFPT1glycosylationtrafficking

Identifiers

PMID42509760
PMCPMC13406536

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.