Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease. (Q45732608)

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3 March 2020

title

Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease (English)

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3 March 2020

1

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3 March 2020

author name string

Markéta Žaliová

2

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3 March 2020

Ken Inoue

3

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3 March 2020

Jana Haberlová

4

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3 March 2020

Klára Sixtová

5

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3 March 2020

Iva Sakmaryová

6

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3 March 2020

Kateřina Paděrová

7

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3 March 2020

Radim Mazanec

8

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3 March 2020

Josef Zámečník

9

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3 March 2020

Dana Šišková

10

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3 March 2020

Jim Garbern

11

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3 March 2020

Pavel Seeman

12

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3 March 2020

language of work or name

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14 June 2013

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Journal of Child Neurology

3 March 2020

published in

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3 March 2020

volume

29

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3 March 2020

issue

7

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3 March 2020

page(s)

924-931

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3 March 2020

1 reference

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Nucleotide sequences of two mRNAs for rat brain myelin proteolipid protein

21 January 2018

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Axon-glial interaction in the CNS: what we have learned from mouse models of Pelizaeus-Merzbacher disease.

21 January 2018

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

21 January 2018

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

21 January 2018

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Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain

21 January 2018

1 reference

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PLP/DM20 expression and turnover in a transgenic mouse model of Pelizaeus-Merzbacher disease

21 January 2018

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Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

21 January 2018

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Proteolipid protein is necessary in peripheral as well as central myelin

21 January 2018

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

21 January 2018

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Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion

21 January 2018

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Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

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

21 January 2018

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Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

21 January 2018

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

21 January 2018

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Automated splicing mutation analysis by information theory

21 January 2018

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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A de novo splice donor site mutation causes in-frame deletion of 14 amino acids in the proteolipid protein in Pelizaeus-Merzbacher disease

21 January 2018

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The proteolipid protein gene

21 January 2018

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Myelin-specific proteolipid protein is expressed in myelinating Schwann cells but is not incorporated into myelin sheaths

21 January 2018

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Myelin proteolipid protein (PLP), but not DM-20, is an inositol hexakisphosphate-binding protein

21 January 2018

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Insertion of mutant proteolipid protein results in missorting of myelin proteins.

21 January 2018

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Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations

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