Associated Papers
Mutant PLP1 impairs COPII vesicle formation via ER calcium depletion in Pelizaeus-Merzbacher disease.
Li H et al.
Neurobiology of Disease, 2026
Claudin-11, a hypomyelinating leukodystrophy 22 (HLD22)-responsible protein, uniquely interacts with shroom-2 to change cell phenotypes.
Kobayashi S et al.
Bba Advances, 2025
CRISPR/CasRx-Mediated Knockdown of Rab7B Restores Incomplete Cell Shape Induced by Pelizaeus-Merzbacher Disease-Associated PLP1 p.Ala243Val.
Fukushima N et al.
Neuroscience Insights, 2024
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL17
Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.
Duan R et al.
Orphanet Journal of Rare Diseases, 2022
Drug screening for Pelizaeus-Merzbacher disease by quantifying the total levels and membrane localization of PLP1.
Kouga T et al.
Molecular Genetics and Metabolism Reports, 2019
Long-Term Safety, Immunologic Response, and Imaging Outcomes following Neural Stem Cell Transplantation for Pelizaeus-Merzbacher Disease.
Gupta N et al.
Stem Cell Reports, 2019
A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease.
Lu Y et al.
Human Genome Variation, 2017
Cellular Pathology of Pelizaeus-Merzbacher Disease Involving Chaperones Associated with Endoplasmic Reticulum Stress.
Inoue K
Frontiers in Molecular Biosciences, 2017
The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.
Sumida K et al.
Brain & Development, 2016
Attenuation of endoplasmic reticulum stress in Pelizaeus-Merzbacher disease by an anti-malaria drug, chloroquine.
Morimura T et al.
Experimental Biology and Medicine (maywood, N.j.), 2014
Potential For Cell-mediated Immune Responses In Mouse Models Of Pelizaeus-Merzbacher Disease.
Southwood CM et al.
Brain Sciences, 2013
Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease.
Numata Y et al.
The Journal of Biological Chemistry, 2013
Pelizaeus-Merzbacher disease as a chromosomal disorder.
Yamamoto T et al.
Congenital Anomalies, 2013
Neural stem cell engraftment and myelination in the human brain.
Gupta N et al.
Science Translational Medicine, 2012
[Congenital cerebral hypomyelination---Pelizaeus-Merzbacher disease and associated disorders].
Inoue K et al.
No to Hattatsu = Brain and Development, 2011
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