| CRASH syndrome: does it teach us about neurotrophic functions of cell adhesion molecules? | |
| | |
MedLine Citation:
|
PMID: 20817921 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
L1 cell adhesion molecule is a transmembrane glycoprotein of the immunoglobulin superfamily. L1 plays essential roles in normal development of the nervous system, and the mutations in the L1 gene are responsible for CRASH syndrome, a very rare inherited disorder characterized by corpus callosum hypoplasia, mental retardation, adducted thumbs, spastic paraplegia, and hydrocephalus. Here it is hypothesized that in the normal nervous system, the synthesis and neurotrophic function of L1 is controlled by a positive feedback loop, which consists of L1, L1 sheddases, gamma-secretase, L1 extracellular domain (L1ED), L1 cytoplasmic domain (L1CD), and transcriptional factor Pax6. The mutations in L1ED or L1CD will disrupt this feedback loop and inhibit the synthesis and neurotrophic function of L1, therefore contributing to the severe phenotypes in CRASH syndrome. Supported by several lines of experimental evidence, this hypothesis has important implications for the therapy of CRASH syndrome by guiding the development of novel strategies to restore this positive feedback loop to recover the normal function of L1 in CRASH patients. |
| | |
Authors:
|
Ling Zhang |
Publication Detail:
|
Type: Journal Article; Review |
Journal Detail:
|
Title: The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry Volume: 16 ISSN: 1089-4098 ISO Abbreviation: Neuroscientist Publication Date: 2010 Aug |
Date Detail:
|
Created Date: 2010-09-06 Completed Date: 2011-01-07 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9504819 Medline TA: Neuroscientist Country: United States |
Other Details:
|
Languages: eng Pagination: 470-4 Citation Subset: IM |
Affiliation:
|
Department of Neurology, Zhongda Hospital, Southeast University, Nanjing, China. zhangling9@hotmail.com |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Eye Proteins
/
genetics,
metabolism Homeodomain Proteins / genetics, metabolism Humans Mental Retardation / genetics, metabolism Neural Cell Adhesion Molecule L1 / genetics, metabolism* Paired Box Transcription Factors / genetics, metabolism Presenilins / genetics, metabolism Repressor Proteins / genetics, metabolism Spastic Paraplegia, Hereditary / genetics, metabolism |
| Chemical | |
Reg. No./Substance:
|
0/Eye Proteins; 0/Homeodomain Proteins; 0/Neural Cell Adhesion Molecule L1; 0/PAX6 protein; 0/Paired Box Transcription Factors; 0/Presenilins; 0/Repressor Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Nitric oxide signaling in brain function, dysfunction, and dementia.
Next Document: Specific HIV-1 integrase polymorphisms change their prevalence in untreated versus antiretroviral-tr...