(Q48480596)

11 February 2018

title

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

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11 February 2018

author name string

Grace M Hobson

1

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11 February 2018

Zhong Huang

2

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11 February 2018

Karen Sperle

3

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11 February 2018

Deborah L Stabley

4

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11 February 2018

Harold G Marks

5

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11 February 2018

Franca Cambi

6

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11 February 2018

publication date

1 October 2002

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11 February 2018

published in

Annals of Neurology

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11 February 2018

volume

52

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11 February 2018

issue

4

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11 February 2018

page(s)

477-488

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11 February 2018

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

cites work

1 reference

DM20 mRNA splice product of the myelin proteolipid protein gene is expressed in the murine heart

21 January 2018

1 reference

Selective expression of DM-20, an alternatively spliced myelin proteolipid protein gene product, in developing nervous system and in nonglial cells

21 January 2018

1 reference

DM-20 mRNA Is Expressed During the Embryonic Development of the Nervous System of the Mouse

21 January 2018

1 reference

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

21 January 2018

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X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

21 January 2018

1 reference

Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia

21 January 2018

1 reference

The molecular pathogenesis of Pelizaeus-Merzbacher disease

21 January 2018

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CNS myelination and PLP gene dosage

21 January 2018

1 reference

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

21 January 2018

1 reference

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations

21 January 2018

1 reference

Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice

21 January 2018

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Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage

21 January 2018

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Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene

21 January 2018

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

21 January 2018

1 reference

Late-onset neurodegeneration in mice with increased dosage of the proteolipid protein gene

21 January 2018

1 reference

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

21 January 2018

1 reference

An intronic (A/U)GGG repeat enhances the splicing of an alternative intron of the chicken beta-tropomyosin pre-mRNA

21 January 2018

1 reference

Muscle-specific splicing enhancers regulate inclusion of the cardiac troponin T alternative exon in embryonic skeletal muscle

21 January 2018

1 reference

Identification of intron and exon sequences involved in alternative splicing of insulin receptor pre-mRNA.

21 January 2018

1 reference

A purine-rich intronic element enhances alternative splicing of thyroid hormone receptor mRNA

21 January 2018

1 reference

CG-4, a new bipotential glial cell line from rat brain, is capable of differentiating in vitro into either mature oligodendrocytes or type-2 astrocytes

21 January 2018

1 reference

Oligodendrocyte maturation and myelin gene expression in PDGF-treated cultures from rat cerebral white matter.

21 January 2018

1 reference

Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations

21 January 2018

1 reference

Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA.

21 January 2018

1 reference

The cardiac troponin T alternative exon contains a novel purine-rich positive splicing element

21 January 2018

1 reference

G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection

21 January 2018

1 reference

Conserved quartets near 5' intron junctions in primate nuclear pre-mRNA.

21 January 2018

1 reference

G+C-rich tract in 5' end of human introns.

21 January 2018

1 reference

Computational analysis of candidate intron regulatory elements for tissue-specific alternative pre-mRNA splicing

21 January 2018

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Regulation of alternative pre-mRNA splicing by hnRNP A1 and splicing factor SF2

21 January 2018

1 reference

Modulation of exon skipping and inclusion by heterogeneous nuclear ribonucleoprotein A1 and pre-mRNA splicing factor SF2/ASF.

21 January 2018

1 reference

Selection of alternative 5' splice sites: role of U1 snRNP and models for the antagonistic effects of SF2/ASF and hnRNP A1.

21 January 2018

1 reference

The generally expressed hnRNP F is involved in a neural-specific pre-mRNA splicing event

21 January 2018

1 reference

Binding of hnRNP H to an exonic splicing silencer is involved in the regulation of alternative splicing of the rat beta-tropomyosin gene

21 January 2018

1 reference

A 5' splice site-proximal enhancer binds SF1 and activates exon bridging of a microexon

21 January 2018

1 reference

An intronic splicing enhancer binds U1 snRNPs to enhance splicing and select 5' splice sites

21 January 2018

1 reference

Expanded sequence dependence of thermodynamic parameters improves prediction of RNA secondary structure

21 January 2018

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Intron self-complementarity enforces exon inclusion in a yeast pre-mRNA

21 January 2018

1 reference

Regulation of fibronectin EDA exon alternative splicing: possible role of RNA secondary structure for enhancer display.

21 January 2018

1 reference

Axons modulate the expression of proteolipid protein in the CNS

21 January 2018

1 reference

Coupling of transcription with alternative splicing: RNA pol II promoters modulate SF2/ASF and 9G8 effects on an exonic splicing enhancer

21 January 2018

1 reference

Evidence for neuroaxonal injury in patients with proteolipid gene mutations.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.10320

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11 February 2018

PubMed ID

12325077

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11 February 2018