Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1993-5-6
pubmed:abstractText
NF1 patients display CNS abnormalities including learning disabilities, clumsiness, astrocytomas, and abnormalities on magnetic resonance imaging exams. To determine whether the cellular and neuroanatomical distribution of neurofibromin reveals possible function for neurofibromin in the brain, we stained rat brain tissue sections with anti-neurofibromin antibodies. Neurofibromin is highly enriched in large projection neurons, such as cortical and hippocampal pyramidal cells and cerebellar Purkinje cells. Neurofibromin is present in cell bodies and in axons, but is highly enriched in dendrites. Immunoelectron microscopic analysis demonstrates that NF1 is associated with smooth vesiculotubular elements and cisternal stacks and with multivesicular bodies in the cell body and dendrites, but not with the plasma membrane, nucleus, nuclear envelope, Golgi apparatus, mitochondria, or rough endoplasmic reticulum. The preferential localization of neurofibromin to the smooth endoplasmic reticulum, together with evidence that neurofibromin modulates ras GTPase activity, suggests that some, if not all, of the CNS manifestations of NF1 might result from the altered expression of neurofibromin in neurons, perhaps through disruption of Ca2+ signaling, translocation of organelles, or endocytic pathways.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0270-6474
pubmed:author
pubmed:issnType
Print
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1588-600
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Neurofibromin is enriched in the endoplasmic reticulum of CNS neurons.
pubmed:affiliation
Department of Anatomy and Cell Biology, University of Cincinnati, College of Medicine, Ohio 45267-0521.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't