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Literature DB >> 7519941

Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease.

D Ellis, S Malcolm.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1994 PMID： 7519941 DOI： 10.1038/ng0494-333

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

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24 in total

1. Evidence that the homeodomain protein Gtx is involved in the regulation of oligodendrocyte myelination.

Authors: R Awatramani; S Scherer; J Grinspan; E Collarini; R Skoff; D O'Hagan; J Garbern; J Kamholz
Journal: J Neurosci Date: 1997-09-01 Impact factor: 6.167

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

Authors: Ken Inoue; Hitoshi Osaka; Virginia C Thurston; Joe T R Clarke; Akira Yoneyama; Lisa Rosenbarker; Thomas D Bird; M E Hodes; Lisa G Shaffer; James R Lupski
Journal: Am J Hum Genet Date: 2002-09-20 Impact factor: 11.025

3. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR.

Authors: K Inoue; H Osaka; N Sugiyama; C Kawanishi; H Onishi; A Nezu; K Kimura; Y Yamada; K Kosaka
Journal: Am J Hum Genet Date: 1996-07 Impact factor: 11.025

4. Insertion of proteolipid protein into oligodendrocyte mitochondria regulates extracellular pH and adenosine triphosphate.

Authors: Sunita Appikatla; Denise Bessert; Icksoo Lee; Maik Hüttemann; Chadwick Mullins; Mallika Somayajulu-Nitu; Fayi Yao; Robert P Skoff
Journal: Glia Date: 2013-12-31 Impact factor: 7.452

5. Proteolipid protein regulates the survival and differentiation of oligodendrocytes.

Authors: X Yang; R P Skoff
Journal: J Neurosci Date: 1997-03-15 Impact factor: 6.167

6. Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.

Authors: M E Hodes; K Woodward; N B Spinner; B S Emanuel; A Enrico-Simon; J Kamholz; D Stambolian; E H Zackai; V M Pratt; I T Thomas; K Crandall; S R Dlouhy; S Malcolm
Journal: Am J Hum Genet Date: 2000-05-25 Impact factor: 11.025

Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease.

1. Evidence that the homeodomain protein Gtx is involved in the regulation of oligodendrocyte myelination.

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

3. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR.

4. Insertion of proteolipid protein into oligodendrocyte mitochondria regulates extracellular pH and adenosine triphosphate.

5. Proteolipid protein regulates the survival and differentiation of oligodendrocytes.

6. Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.

Review 7. The proteolipid protein gene: double, double, ... and trouble.

8. Insertion of proteolipid protein into mitochondria but not DM20 regulates metabolism of cells.

9. Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.

10. Peripheral neuropathy in mice transgenic for a human MDR3 P-glycoprotein mini-gene.