| pubmed-article:7849698 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:7849698 | lifeskim:mentions | umls-concept:C0002736 | lld:lifeskim |
| pubmed-article:7849698 | lifeskim:mentions | umls-concept:C0027834 | lld:lifeskim |
| pubmed-article:7849698 | lifeskim:mentions | umls-concept:C0205419 | lld:lifeskim |
| pubmed-article:7849698 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:7849698 | lifeskim:mentions | umls-concept:C1527148 | lld:lifeskim |
| pubmed-article:7849698 | lifeskim:mentions | umls-concept:C0439539 | lld:lifeskim |
| pubmed-article:7849698 | lifeskim:mentions | umls-concept:C1711351 | lld:lifeskim |
| pubmed-article:7849698 | pubmed:issue | 10 | lld:pubmed |
| pubmed-article:7849698 | pubmed:dateCreated | 1995-3-16 | lld:pubmed |
| pubmed-article:7849698 | 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. | lld:pubmed |
| pubmed-article:7849698 | pubmed:language | eng | lld:pubmed |
| pubmed-article:7849698 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7849698 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:7849698 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:7849698 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:7849698 | pubmed:issn | 0964-6906 | lld:pubmed |
| pubmed-article:7849698 | pubmed:author | pubmed-author:MeiningerVV | lld:pubmed |
| pubmed-article:7849698 | pubmed:author | pubmed-author:FiglewiczD... | lld:pubmed |
| pubmed-article:7849698 | pubmed:author | pubmed-author:JulienJ PJP | lld:pubmed |
| pubmed-article:7849698 | pubmed:author | pubmed-author:RouleauG AGA | lld:pubmed |
| pubmed-article:7849698 | pubmed:author | pubmed-author:KrizusAA | lld:pubmed |
| pubmed-article:7849698 | pubmed:author | pubmed-author:MartinoliM... | lld:pubmed |
| pubmed-article:7849698 | pubmed:author | pubmed-author:DibMM | lld:pubmed |
| pubmed-article:7849698 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:7849698 | pubmed:volume | 3 | lld:pubmed |
| pubmed-article:7849698 | pubmed:geneSymbol | NEFH | lld:pubmed |
| pubmed-article:7849698 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:7849698 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:7849698 | pubmed:pagination | 1757-61 | lld:pubmed |
| pubmed-article:7849698 | pubmed:dateRevised | 2008-11-21 | lld:pubmed |
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| pubmed-article:7849698 | pubmed:year | 1994 | lld:pubmed |
| pubmed-article:7849698 | pubmed:articleTitle | Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. | lld:pubmed |
| pubmed-article:7849698 | pubmed:affiliation | Centre for Research in Neuroscience, McGill University, Montreal, Quebec, Canada. | lld:pubmed |
| pubmed-article:7849698 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:7849698 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:7849698 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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