(Q39331757)

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Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication

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scholarly article

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Europe PubMed Central

PubMed publication ID

11 September 2017

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication (English)

1 reference

Europe PubMed Central

PubMed publication ID

11 September 2017

Pelizaeus-Merzbacher disease

1 reference

based on heuristic

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author name string

Keiko Shimojima

1

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11 September 2017

Takahito Inoue

2

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11 September 2017

Yuki Imai

3

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11 September 2017

Yasuhiro Arai

4

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11 September 2017

Yuta Komoike

5

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11 September 2017

Midori Sugawara

6

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11 September 2017

Takako Fujita

7

1 reference

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11 September 2017

Hiroshi Ideguchi

8

1 reference

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11 September 2017

Sawa Yasumoto

9

1 reference

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11 September 2017

Hitoshi Kanno

10

1 reference

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11 September 2017

Shinichi Hirose

11

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11 September 2017

Toshiyuki Yamamoto

12

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11 September 2017

publication date

14 June 2012

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11 September 2017

Journal of Human Genetics

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11 September 2017

57

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11 September 2017

9

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11 September 2017

580-586

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11 September 2017

https://scigraph.springernature.com/pub.10.1038/jhg.2012.71

0 references

PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

Neurodegenerative disease-specific induced pluripotent stem cell research

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

A common mechanism of PLP/DM20 misfolding causes cysteine-mediated endoplasmic reticulum retention in oligodendrocytes and Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

Axonal swellings and degeneration in mice lacking the major proteolipid of myelin

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

21 January 2018

Generation and characterization of human induced pluripotent stem cells.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

7 January 2021

based on heuristic

inferred from DOI database lookup

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

7 January 2021

based on heuristic

inferred from DOI database lookup

Assembly of CNS myelin in the absence of proteolipid protein

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.71

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/JHG.2012.71

1 reference

Europe PubMed Central

PubMed publication ID

11 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 September 2017

ResearchGate publication ID

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