(Q46803245)

25 December 2017

title

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

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25 December 2017

alternative mRNA splicing, via spliceosome

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1 reference

4

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25 December 2017

Peter K. Rogan

5

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25 December 2017

author name string

Grace M Hobson

1

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25 December 2017

Zhong Huang

2

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25 December 2017

Karen Sperle

3

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25 December 2017

James Y Garbern

6

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25 December 2017

Edwin Kolodny

7

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25 December 2017

Sakkubai Naidu

8

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25 December 2017

Franca Cambi

9

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25 December 2017

publication date

1 January 2006

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25 December 2017

published in

Human Mutation

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25 December 2017

volume

27

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25 December 2017

issue

1

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25 December 2017

page(s)

69-77

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25 December 2017

A short sequence within two purine-rich enhancers determines 5' splice site specificity

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

A 32-nucleotide exon-splicing enhancer regulates usage of competing 5' splice sites in a differential internal exon

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

Exon definition may facilitate splice site selection in RNAs with multiple exons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

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/10.1002%2FHUMU.20276

7 January 2021

Molecular biology of myelin proteins from the central nervous system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

The pathobiology of myelin mutants reveal novel biological functions of the MBP and PLP genes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

Proteolipid protein is necessary in peripheral as well as central myelin.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

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/10.1002%2FHUMU.20276

7 January 2021

Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

A PLP splicing abnormality is associated with an unusual presentation of PMD.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

Down-regulation of the retinoblastoma protein (rb) is associated with rat oligodendrocyte differentiation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

Developmental Expression of Proteolipid Protein and DM20 mRNAs and Proteins in the Rat Brain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

Automated splicing mutation analysis by information theory.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

Are vertebrate exons scanned during splice-site selection?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

Information theory-based analysis of CYP2C19, CYP2D6 and CYP3A5 splicing mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

Alternative pre-mRNA splicing: the logic of combinatorial control

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

Oligodendrocytes expressing exclusively the DM20 isoform of the proteolipid protein gene: myelination and development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

The evolution of lipophilin genes from invertebrates to tetrapods: DM-20 cannot replace proteolipid protein in CNS myelin.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

The DM20 protein of myelin: intracellular and surface expression patterns in transfectants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

Splice-Site Mutations in Atherosclerosis Candidate Genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20276

7 January 2021

Identifiers

DOI

10.1002/HUMU.20276

1 reference

25 December 2017

1 reference

25 December 2017