Linked Life Data

20816241

Source:http://linkedlifedata.com/resource/pubmed/id/20816241

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2010-9-6
pubmed:abstractText
Autosomal dominant leukodystrophy (ADLD) is an adult-onset demyelinating disorder that has recently shown to be caused by duplications of the nuclear lamina gene, lamin B1. This chapter attempts to collate and summarize the current knowledge about the disease and the clinical, pathological, and radiological presentations of the different ADLD families described till date. It also provides an overview of the molecular genetics underlying the disease and the mechanisms that may cause the duplication mutation event. ADLD is the first disease that has ever been linked to lamin B1 mutations and it expands the pathological role of the nuclear lamia to include disorders of the brain. The chapter also speculates on the different mechanisms that may link an important and ubiquitous structure like the nuclear lamina with the complex and cell-specific functions of myelin formation and maintenance. Understanding these mechanisms may not only prove helpful in understanding ADLD pathology but can also help in identifying new pathways that may be involved in myelin biology that can have implications for common demyelinating diseases like multiple sclerosis.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0091-679X
pubmed:author
pubmed:copyrightInfo
Copyright (c) 2010 Elsevier Inc. All rights reserved.
pubmed:issnType
Print
pubmed:volume
98
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
337-57
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease.
pubmed:affiliation
Department of Neurology, University of California, San Francisco, San Francisco, California 94158, USA.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural