Evidence map›Paper›PMID 40501776›Full record

ArticlebioRxiv : the preprint server for biology2025

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.

Andrew C Edmondson, Rohit Budhraja, Zijie Xia, Ashley Melendez-Perez, Cadmus Cai, Silvia Radenkovic, Ashley M Collins, Emily J Shiplett, Sophie F Hill, Ala Somarowthu and 10 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. 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. Review
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

20 authors.

Andrew C EdmondsonDepartment of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0003-0313-0743
Rohit BudhrajaDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Zijie XiaDepartment of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Ashley Melendez-PerezDepartment of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Cadmus CaiDepartment of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Silvia RadenkovicDepartment of Clinical Genomics, Mayo Clinic, Rochester MN, USA.
Ashley M CollinsDepartment of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Emily J ShiplettDepartment of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Sophie F HillDepartment of Pediatrics, Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-8331-9812
Ala SomarowthuDepartment of Pediatrics, Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Johanna DamDepartment of Neural Sciences, Center for Neural Development and Repair, Lewis Katz School of Medicine, Temple University, Philadelphia, PA, USA.
Ling-Lin PaiDepartment of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Mariarita SantiDepartment of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Seonhee KimDepartment of Neural Sciences, Center for Neural Development and Repair, Lewis Katz School of Medicine, Temple University, Philadelphia, PA, USA.
Miao HeDepartment of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Ethan M GoldbergDepartment of Pediatrics, Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Tamas KoziczDepartment of Genomics and Genetic Sciences, Icahn School of Medicine at Mount Sinai Hospital, New York, NY, USA.
Eva MoravaDepartment of Genomics and Genetic Sciences, Icahn School of Medicine at Mount Sinai Hospital, New York, NY, USA.
Akhilesh PandeyDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Zhaolan ZhouDepartment of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

Funding

Pilot and Feasibility CoreU54NS115198 · NINDS · MAYO CLINIC ROCHESTER · PI MORAVA-KOZICZ, EVA · 2019 to 2023
$8.2M
Pathogenic Studies of CDKL5 DisorderR01NS102731 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI ZHOU, ZHAOLAN · 2018 to 2022
$2.7M
O-glycosylation mechanisms of neurological deficits in congenital disorders of glycosylationK08NS118119 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI EDMONDSON, ANDREW CHARLES · 2020 to 2024
$904k
Neuropathogenic Studies of Congenital Disorders of GlycosylationR21NS112742 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI ZHOU, ZHAOLAN · 2020 to 2020
$446k
NINDS NIH HHS K08 NS118119NINDS NIH HHS R01 NS102731NINDS NIH HHS R21 NS112742NINDS NIH HHS U54 NS115198
6 · The paper itself

Abstract

Congenital disorders of glycosylation (CDG) are a group of neurogenetic conditions resulting from disruptions in the cellular glycosylation machinery. The majority of CDG patients have compound heterozygous pathogenic variants in the phosphomannomutase 2 (

Indexed as

Congenital Disorders of GlycosylationEpilepsyN-glycoproteomicsN-glycosylationPMM2

Identifiers

PMID40501776
PMCPMC12157701

What OpenQuestion 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 OpenQuestion graph.