Literature DB >> 10203813

Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice.

K Woodward1, S Malcolm.   

Abstract

The dosage of the myelin gene and mutant forms of the protein can affect the CNS and PNS. Pelizaeus-Merzbacher disease (PMD) is a myelin disorder of the CNS that arises from both mutational mechanisms. Investigating the molecular basis of PMD in patients and animal models is furthering our understanding of the disease, dosage sensitivity and proteolipid protein function during myelinogenesis.

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Year:  1999        PMID： 10203813     DOI： 10.1016/s0168-9525(99)01716-3

Source DB:  PubMed          Journal:  Trends Genet        ISSN： 0168-9525            Impact factor:   11.639


  10 in total

1.  Comparative peptidome analyses of the profiles of the peptides ranging from 1-10 KD in CSF samples pooled from probable sporadic CJD and non-CJD patients.

Authors:  Cao Chen; Di Xiao; Wei Zhou; Yong-Chan Zhang; Qi Shi; Chan Tian; Jin Zhang; Chun-Xi Zhou; Jian-Zhong Zhang; Xiao-Ping Dong
Journal:  Prion       Date:  2012 Jan-Mar       Impact factor: 3.931

Review 2.  Concepts of myelin and myelination in neuroradiology.

Authors:  A J Barkovich
Journal:  AJNR Am J Neuroradiol       Date:  2000 Jun-Jul       Impact factor: 3.825

3.  Expression of a myelin proteolipid protein (Plp)-lacZ transgene is reduced in both the CNS and PNS of Plp(jp) mice.

Authors:  Patricia A Wight; Cynthia S Duchala; H Elizabeth Shick; Tatyana I Gudz; Wendy B Macklin
Journal:  Neurochem Res       Date:  2006-12-27       Impact factor: 3.996

4.  Myelin Genes and the Corpus Callosum: Proteolipid Protein 1 (PLP1) and Contactin 1 (CNTN1) Gene Variation Modulates Interhemispheric Integration.

Authors:  Sebastian Ocklenburg; Wanda M Gerding; Larissa Arning; Erhan Genç; Jörg T Epplen; Onur Güntürkün; Christian Beste
Journal:  Mol Neurobiol       Date:  2016-11-18       Impact factor: 5.590

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

Authors:  Karen J Woodward; Maria Cundall; Karen Sperle; Erik A Sistermans; Mark Ross; Gareth Howell; Susan M Gribble; Deborah C Burford; Nigel P Carter; Donald L Hobson; James Y Garbern; John Kamholz; Henry Heng; M E Hodes; Sue Malcolm; Grace M Hobson
Journal:  Am J Hum Genet       Date:  2005-10-19       Impact factor: 11.025

6.  Different proteolipid protein mutants exhibit unique metabolic defects.

Authors:  Maik Hüttemann; Zhan Zhang; Chadwick Mullins; Denise Bessert; Icksoo Lee; Klaus-Armin Nave; Sunita Appikatla; Robert P Skoff
Journal:  ASN Neuro       Date:  2009-08-25       Impact factor: 4.146

7.  Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease.

Authors:  Francesca Pizzini; Ali S Fatemi; Peter B Barker; Lidia M Nagae-Poetscher; Alena Horská; Andrew W Zimmerman; Hugo W Moser; Genila Bibat; Sakkubai Naidu
Journal:  AJNR Am J Neuroradiol       Date:  2003-09       Impact factor: 3.825

8.  Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein.

Authors:  Elisabetta Gazzerro; Simona Baldassari; Caterina Giacomini; Veronica Musante; Floriana Fruscione; Veronica La Padula; Roberta Biancheri; Sonia Scarfì; Valeria Prada; Federica Sotgia; Ian D Duncan; Federico Zara; Hauke B Werner; Michael P Lisanti; Lucilla Nobbio; Anna Corradi; Carlo Minetti
Journal:  PLoS One       Date:  2012-03-26       Impact factor: 3.240

9.  Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR.

Authors:  Stefano Regis; Serena Grossi; Susanna Lualdi; Roberta Biancheri; Mirella Filocamo
Journal:  Neurogenetics       Date:  2005-04-13       Impact factor: 2.660

10.  Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases.

Authors:  Moones Heidari; Sam H Gerami; Brianna Bassett; Ross M Graham; Anita C G Chua; Ritambhara Aryal; Michael J House; Joanna F Collingwood; Conceição Bettencourt; Henry Houlden; Mina Ryten; John K Olynyk; Debbie Trinder; Daniel M Johnstone; Elizabeth A Milward
Journal:  Rare Dis       Date:  2016-06-22
  10 in total

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