Evidence map›Paper›PMID 42638426›Full record

ArticleAnimal models and experimental medicine2026

A rhesus macaque model of α-dystroglycanopathy caused by a POMT1 splice altering variant.

Anya Nordlund, Brian LaMendola, Nathan P Crilly, Seth Kittle, Betsy M Ferguson, Anne D Lewis, Jeff Wall, Samuel M Peterson

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Animal models and experimental medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

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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

8 authors.

Anya NordlundDivision of Comparative Medicine, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, Oregon, USA.
Brian LaMendolaDivision of Comparative Medicine, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, Oregon, USA.
Nathan P CrillyDivision of Comparative Medicine, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, Oregon, USA.
Seth KittleDivision of Comparative Medicine, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, Oregon, USA.
Betsy M FergusonDivision of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, Oregon, USA.
Anne D LewisDivision of Comparative Medicine, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, Oregon, USA.
Jeff WallDivision of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, Oregon, USA.
Samuel M PetersonDivision of Comparative Medicine, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, Oregon, USA.ORCID https://orcid.org/0009-0001-6406-7365

Funding

Upgrade of confocal microscopy at the Oregon National Primate Research CenterP51OD011092 · OD · OREGON HEALTH & SCIENCE UNIVERSITY · PI Bonnie J. Nagel · 2012 to 2026
$203.9M
Genomic Sequencing to Establish a Macaque Genotype and Phenotype Research ResourceR24OD021324 · OD · OREGON HEALTH & SCIENCE UNIVERSITY · PI FERGUSON, BETSY M · 2016 to 2023
$7.7M
High Performance Computing and Machine Learning Infrastructure for Oregon Life SciencesS10OD034224 · OD · OREGON HEALTH & SCIENCE UNIVERSITY · PI ELLROTT, KYLE · 2023 to 2023
$2.0M
NIH HHS P51 OD011092NIH HHS P51OD011092NIH HHS R24 OD021324NIH HHS R24OD021324NIH HHS S10 OD034224NIH HHS S10OD034224
6 · The paper itself

Abstract

backgroundBiallelic mutations in genes associated with α-dystroglycan glycosylation manifest in a spectrum of conditions referred to as α-dystroglycanopathies, including Walker-Warburg syndrome, which primarily disrupt brain, eye, and muscle development. While small-animal models for the disease have been developed and described, the condition has not been documented in non-human primates.

methodsThree spontaneous cases of severe lissencephaly, microphthalmia, and congenital muscular contracture in infant rhesus macaques were investigated. Histological analysis was performed on brain, retina, and skeletal muscle tissue. Genomic sequencing and RT-PCR were used to identify and validate the causative pathogenic variant.

resultsThe genetic basis for disease was determined to be the result of a rare single nucleotide variant altering a canonical splice site in the POMT1 gene. Aberrant splicing was confirmed in affected monkeys and H&E staining demonstrated histological markers consistent with severe α-dystroglycanopathy.

conclusionsRecapitulation of this clinical disease phenotype in a non-human primate establishes the utility of rhesus macaques as a model for dystroglycanopathies, such as Walker-Warburg syndrome.

Indexed as

lissencephalyMacaca mulattamacaquePOMT1Walker‐Warburg syndromeα‐dystroglycanopathies

Identifiers

PMID42638426
PMCPMC13504205

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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.