Associated Papers
Mutant PLP1 impairs COPII vesicle formation via ER calcium depletion in Pelizaeus-Merzbacher disease.
Li H et al.
Neurobiology of Disease, 2026
Pervasive mislocalization of pathogenic coding variants underlying human disorders.
Lacoste J et al.
Cell, 2024
Pervasive mislocalization of pathogenic coding variants underlying human disorders.
Lacoste J et al.
Biorxiv : the Preprint Server for Biology, 2023
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
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
Performance of protein disorder prediction programs on amino acid substitutions.
Ali H et al.
Human Mutation, 2014
24753228 (PubMed )
Supplement: supplement_1.pdf
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
Select a paper to view details