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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
10
|
| pubmed:dateCreated |
1995-3-16
|
| pubmed:abstractText |
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder primarily affecting motor neurons. The etiology of the majority of cases remains unknown. Recent findings from several laboratories suggest a role for neurofilaments in the development of motor neuron disorders. The C-terminal region of the human neurofilament heavy subunit (NEFH) contains a unique functional domain consisting of 43 repeat motifs of the amino acids Lys-Ser-Pro (KSP). This C-terminal region of NEFH forms the sidearm projections which cross-link the neurofilaments. Previously, we have demonstrated polymorphism in the C-terminal region of the human NEFH: an allelic variant of a slightly larger molecular size, containing an additional KSP phosphorylation motif. Novel mutations in this region were found in five ALS patients. We propose that changes in the KSP-repeat domain may affect the cross-linking properties of the heavy neurofilament subunit and perhaps contribute to the development of neurofilamentous swellings in motor neurons, a hallmark of ALS.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Oct
|
| pubmed:issn |
0964-6906
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
3
|
| pubmed:geneSymbol |
NEFH
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1757-61
|
| pubmed:dateRevised |
2008-11-21
|
| pubmed:meshHeading |
pubmed-meshheading:7849698-Aged,
pubmed-meshheading:7849698-Amino Acid Sequence,
pubmed-meshheading:7849698-Amyotrophic Lateral Sclerosis,
pubmed-meshheading:7849698-Base Sequence,
pubmed-meshheading:7849698-Cloning, Molecular,
pubmed-meshheading:7849698-DNA,
pubmed-meshheading:7849698-DNA Primers,
pubmed-meshheading:7849698-Female,
pubmed-meshheading:7849698-Genetic Variation,
pubmed-meshheading:7849698-Humans,
pubmed-meshheading:7849698-Macromolecular Substances,
pubmed-meshheading:7849698-Male,
pubmed-meshheading:7849698-Middle Aged,
pubmed-meshheading:7849698-Molecular Sequence Data,
pubmed-meshheading:7849698-Neurofilament Proteins,
pubmed-meshheading:7849698-Polymerase Chain Reaction,
pubmed-meshheading:7849698-Polymorphism, Genetic,
pubmed-meshheading:7849698-Repetitive Sequences, Nucleic Acid
|
| pubmed:year |
1994
|
| pubmed:articleTitle |
Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis.
|
| pubmed:affiliation |
Centre for Research in Neuroscience, McGill University, Montreal, Quebec, Canada.
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|