Evidence map›Paper›PMID 38597022›Full record

ArticleJournal of inherited metabolic disease2024

Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG.

Earnest J P Daniel, Andrew C Edmondson, Yair Argon, Hind Alsharhan, Christina Lam, Hudson H Freeze, Miao He

Open access · greenAbstract read
In one paragraph

Article in Journal of inherited metabolic disease, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.3field-weighted citation impact, top 23% of its field
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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
  3. Dysregulation of N-glycosylation byInternational journal of biological sciences · 2025
    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

7 authors at 4 institutions in 2 countries.

Earnest J P DanielDepartment of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0003-1706-0395
Andrew C EdmondsonDepartment of Pediatrics, Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Yair ArgonDepartment of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Hind AlsharhanDepartment of Pediatrics, College of Medicine, Kuwait University, Jabriya, Kuwait.
Christina LamDivision of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.
Hudson H FreezeHuman Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
Miao HeDepartment of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-6333-0918
Children's Hospital of Philadelphia · USKuwait University · KWSanford Burnham Prebys Medical Discovery Institute · USUniversity of Washington · US

Funding

MEDICAL GENETICS RESEARCH TRAINING GRANTT32GM008638 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca Ganetzky · 1997 to 2026
$8.7M
Pilot and Feasibility CoreU54NS115198 · NINDS · MAYO CLINIC ROCHESTER · PI MORAVA-KOZICZ, EVA · 2019 to 2023
$8.2M
New Congenital Disorders of Glycosylation: Therapy and ModelsR01DK099551 · NIDDK · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI Hudson H. Freeze · 2014 to 2026
$6.7M
Exploring respiratory chain glycoproteomics in mitochondrial diseaseR01GM115730 · NIGMS · CHILDREN'S HOSP OF PHILADELPHIA · PI ARGON, YAIR, FALK, MARNI J · 2015 to 2017
$1.8M
NIDDK NIH HHS R01 DK099551NIGMS NIH HHS R01 GM115730NIGMS NIH HHS T32 GM008638NIH HHS R01DK99551NIH HHS T32 GM008638NINDS NIH HHS U54 NS115198Rocket Fund
6 · The paper itself

Abstract

ALG3-CDG is a rare congenital disorder of glycosylation (CDG) with a clinical phenotype that includes neurological manifestations, transaminitis, and frequent infections. The ALG3 enzyme catalyzes the first step of endoplasmic reticulum (ER) luminal glycan extension by adding mannose from Dol-P-Man to Dol-PP-Man

Indexed as

Congenital Disorders of GlycosylationEndoplasmic Reticulum StressFibroblastsMannosyltransferasesPolysaccharidesCells, CulturedEndoplasmic ReticulumEndoplasmic Reticulum-Associated DegradationGlycosylationHumansUnfolded Protein ResponseALG3 protein, humanMannosyltransferasesPolysaccharidesALG3congenital disorders of glycosylationERADN‐glycansUPR

Identifiers

PMID38597022
PMCPMC11251843
OpenAlexW4394690671

What OpenQuestion holds

Textmetadata
LicenceTDM
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.