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Expert Opinion on Orphan Drugs Volume 3, 2015 - Issue 12
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Reviews

Pathophysiology and emerging therapeutic strategies in Pelizaeus–Merzbacher disease

Hitoshi OsakaDepartment of Pediatrics, Jichi Medical School, Shimotsuke-shi, JapanCorrespondence[email protected]
&
Ken InoueDepartment of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan
Pages 1447-1459 | Published online: 29 Oct 2015

Bibliography

  • Papers of special note have been highlighted as either of interest (*) or of considerable interest (**) to readers.
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** The first paper to describe these aspects of Pelizaeus–Merzbacher disease.

  • Seitelberger F. Histochemistry & classification of Pelizaeus–Merzbacher disease. Wien Z Nervenheilkd Grenzgeb. 1957;14(1):74–83.
  • Trofatter JA, Dlouhy SR, DeMyer W, et al. Pelizaeus–Merzbacher disease: tight linkage to proteolipid protein gene exon variant. Proc Natl Acad Sci USA. 1989;86(23):9427–9430.

** This paper found the causative gene for Pelizaeus–Merzbacher disease to be the proteolipid protein gene.

  • Hudson LD, Puckett C, Berndt J, et al. Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proc Natl Acad Sci USA. 1989;86(20):8128–8131.

** This paper found the causative gene for Pelizaeus–Merzbacher disease to be the proteolipid protein gene.

  • Inoue K, Osaka H, Sugiyama N, et al. A duplicated PLP gene causing Pelizaeus–Merzbacher disease detected by comparative multiplex PCR. Am J Hum Genet. 1996;59(1):32–39.
  • Inoue K, Osaka H, Imaizumi K, et al. Proteolipid protein gene duplications causing Pelizaeus–Merzbacher disease: molecular mechanism and phenotypic manifestations. Ann Neurol. 1999;45(5):624–632.
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* Practical reviews of PMD.

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* This paper predicted a secondary structure of PLP1.

* This paper also predicted a secondary structure of PLP1.

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* The first paper that reported PLP1 duplication.

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* This paper classified the disease severity and described the genotype-phenotype correlation.

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* This paper described a genetic mouse model that had characteristics similar to those observed in humans with PLP1 duplication.

** The first description of a model mouse of PMD.

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  • Southwood CM, Garbern J, Jiang W, et al. The unfolded protein response modulates disease severity in Pelizaeus–Merzbacher disease. Neuron. 2002;36(4):585–596.

** A clear description of the ER stress response in PMD.

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* Cholesterol therapy for a PMD mouse model.

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* The first description of massive microglial activation in a PMD mouse model.

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* The first paper on iPS-derived oligodendrocytes from a patient with PMD.

  • Shimojima K, Inoue T, Imai Y, et al. Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus–Merzbacher disease patient with a partial PLP1 duplication. J Hum Genet. 2012;57(9):580–586.
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