Associated Papers
Mutant PLP1 impairs COPII vesicle formation via ER calcium depletion in Pelizaeus-Merzbacher disease.
Li H et al.
Neurobiology of Disease, 2026
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG2
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
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
Ji H et al.
Plos One, 2018
29451896 (PubMed )
Supplement: pone.0188869.s005.xlsx › _S5_Table
A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease.
Lu Y et al.
Human Genome Variation, 2017
28101371 (PubMed )
Supplement: hgv201644-s1.doc
Cellular Pathology of Pelizaeus-Merzbacher Disease Involving Chaperones Associated with Endoplasmic Reticulum Stress.
Inoue K
Frontiers in Molecular Biosciences, 2017
Performance of protein disorder prediction programs on amino acid substitutions.
Ali H et al.
Human Mutation, 2014
24753228 (PubMed )
Supplement: supplement_1.pdf
Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease.
Laukka JJ et al.
Journal of the Neurological Sciences, 2013
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
Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'.
Svenstrup K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2010
Symptomatic Female Spastic Paraplegia Patient with a Novel Heterozygous Variant of the PLP1 Gene.
Kim AR et al.
Annals of Indian Academy of Neurology, 0
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