ArticleAnnals of clinical and translational neurology2016
Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site.
Article in Annals of clinical and translational neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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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.
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.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Gangliosides in molecular interactions and cell regulation.The Journal of biological chemistry · 2026Review
- Early transcriptomic perturbations highlight the spinal cord as a key pathogenic region in spinocerebellar ataxia type 3.Frontiers in cellular neuroscience · 2025Article
- Prophylactic clemastine treatment improves influenza A virus-induced cognitive dysfunction in mice.Brain, behavior, & immunity - health · 2024Article
- A NovelGenes · 2024Article
- Overview of Neuro-Ophthalmic Findings in Leukodystrophies.Journal of clinical medicine · 2024Article
- Gangliosides as Siglec ligands.Glycoconjugate journal · 2023Review
- Application of SygenBioengineering (Basel, Switzerland) · 2022Review
- Siglec Ligands.Cells · 2021Review
- NovelJournal of clinical medicine · 2020Article
- Gangliosides in the Brain: Physiology, Pathophysiology and Therapeutic Applications.Frontiers in neuroscience · 2020Review
- Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!Annals of clinical and translational neurology · 2019Article
- Adhesion G-protein coupled receptors and extracellular matrix proteins: Roles in myelination and glial cell development.Developmental dynamics : an official publication of the American Association of Anatomists · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
The MAG gene encodes myelin-associated glycoprotein (MAG), an abundant protein involved in axon-glial interactions and myelination during nerve regeneration. Several members of a consanguineous family with a clinical syndrome reminiscent of Pelizaeus-Merzbacher disease and demyelinating leukodystrophy on brain MRI were recently found to harbor a homozygous missense p.Ser133Arg MAG mutation. Here, we report two brothers from a nonconsanguineous family afflicted with progressive cognitive impairment, neuropathy, ataxia, nystagmus, and gait disorder. Exome sequencing revealed the homozygous missense mutation p.Arg118His in MAG. This Arg118 residue in immunoglobulin domain 1 is critical for sialic acid binding, providing a compelling mechanistic basis for disease pathogenesis.
Identifiers
What OpenQuestion holds
Registered trials
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.