Associated Papers
Small-molecule activators specific to adenine base editors through blocking the canonical TGF-β pathway.
Yang Y et al.
Nucleic Acids Research, 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
Neurogenetics of Pelizaeus-Merzbacher disease.
Osório MJ et al.
Handbook of Clinical Neurology, 2018
Endoplasmic reticulum stress and the unfolded protein response in disorders of myelinating glia.
Clayton BLL et al.
Brain Research, 2016
The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.
Sumida K et al.
Brain & Development, 2016
Performance of protein disorder prediction programs on amino acid substitutions.
Ali H et al.
Human Mutation, 2014
Proteolipid protein dimerization at cysteine 108: Implications for protein structure.
Daffu G et al.
Neuroscience Research, 2012
Effect of curcumin in a mouse model of Pelizaeus-Merzbacher disease.
Yu LH et al.
Molecular Genetics and Metabolism, 2012
[Congenital cerebral hypomyelination---Pelizaeus-Merzbacher disease and associated disorders].
Inoue K et al.
No to Hattatsu = Brain and Development, 2011
Misalignment of PLP/DM20 transmembrane domains determines protein misfolding in Pelizaeus-Merzbacher disease.
Dhaunchak AS et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011
Modulation of the oligomerization of myelin proteolipid protein by transmembrane helix interaction motifs.
Ng DP et al.
Biochemistry, 2010
Differences in endoplasmic-reticulum quality control determine the cellular response to disease-associated mutants of proteolipid protein.
Roboti P et al.
Journal of Cell Science, 2009
Perturbed interactions of mutant proteolipid protein/DM20 with cholesterol and lipid rafts in oligodendroglia: implications for dysmyelination in spastic paraplegia.
Krämer-Albers EM et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006
Aberrant trafficking of a proteolipid protein in a mild Pelizaeus-Merzbacher disease.
Koizume S et al.
Neuroscience, 2006
His36Pro point-mutated proteolipid protein retained in the endoplasmic reticulum of oligodendrocytes in the shaking pup.
Song J et al.
Glia, 2006
Role of calnexin in the glycan-independent quality control of proteolipid protein.
Swanton E et al.
The Embo Journal, 2003
The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease.
Southwood CM et al.
Neuron, 2002
A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.
Seeman P et al.
International Journal of Molecular Medicine, 2002
Mutant Plp/DM20 cannot be processed to secrete PLP-related oligodendrocyte differentiation/survival factor.
Yamada M et al.
Neurochemical Research, 2001
Molecular pathways of oligodendrocyte apoptosis revealed by mutations in the proteolipid protein gene.
Southwood C et al.
Microscopy Research and Technique, 2001
Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice.
Woodward K et al.
Trends in Genetics : Tig, 1999
Connatal Pelizaeus-Merzbacher disease associated with the jimpy(msd) mice mutation.
Komaki H et al.
Pediatric Neurology, 1999
Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease.
Gow A et al.
The Journal of Cell Biology, 1998
Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease.
Yamamoto T et al.
American Journal of Medical Genetics, 1998
A five-basepair deletion (7118 delTTTTA) identified within neurofibromatosis (NF1) exon 39.
Rodenhiser DI et al.
Human Mutation, 1997
Jimpy-4J mouse has a missense mutation in exon 2 of the Plp gene.
Pearsall GB et al.
Developmental Neuroscience, 1997
Monoclonal antibody O10 defines a conformationally sensitive cell-surface epitope of proteolipid protein (PLP): evidence that PLP misfolding underlies dysmyelination in mutant mice.
Jung M et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1996
[Hereditary predispositions to cancer: the genetic diagnosis in practice].
Girodet C et al.
Bulletin Du Cancer, 1996
A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.
Gow A et al.
Nature Genetics, 1996
Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport.
Gow A et al.
Journal of Neuroscience Research, 1994