Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis. Export

@article{citeulike:5016920, abstract = {We generated four transgenic mice with a 34 kb genomic fragment including the complete human neurofilament heavy (NF-H) gene. This human NF-H fragment contained all regulatory elements for tissue-specific expression, and in two transgenic lines, human NF-H proteins were produced at levels up to 2-fold the levels of endogenous mouse NF-H protein. By 3-4 months of age, these NF-H transgenics progressively develop neurological defects and abnormal neurofilamentous swellings that are highly reminiscent of those found in amyotrophic lateral sclerosis (ALS). We propose that a modest up-regulation of NF-H cross-linkers can result in an impairment of neurofilament transport, causing neuronal swellings with ensuing axonopathy and muscle atrophy, a mechanism of pathogenesis pertinent to the possible etiology of ALS.}, author = {C\^{o}t\'{e}, F. and Collard, J. F. and Julien, J. P.}, citeulike-article-id = {5016920}, citeulike-linkout-0 = {http://view.ncbi.nlm.nih.gov/pubmed/8462101}, citeulike-linkout-1 = {http://www.hubmed.org/display.cgi?uids=8462101}, issn = {0092-8674}, journal = {Cell}, keywords = {als, mnd, model, mouse, neurofilament}, month = {April}, number = {1}, pages = {35--46}, posted-at = {2009-06-30 01:21:22}, priority = {2}, title = {Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis.}, url = {http://view.ncbi.nlm.nih.gov/pubmed/8462101}, volume = {73}, year = {1993} }

TY - JOUR ID - citeulike:5016920 L3 - citeulike-article-id:5016920 N2 - We generated four transgenic mice with a 34 kb genomic fragment including the complete human neurofilament heavy (NF-H) gene. This human NF-H fragment contained all regulatory elements for tissue-specific expression, and in two transgenic lines, human NF-H proteins were produced at levels up to 2-fold the levels of endogenous mouse NF-H protein. By 3-4 months of age, these NF-H transgenics progressively develop neurological defects and abnormal neurofilamentous swellings that are highly reminiscent of those found in amyotrophic lateral sclerosis (ALS). We propose that a modest up-regulation of NF-H cross-linkers can result in an impairment of neurofilament transport, causing neuronal swellings with ensuing axonopathy and muscle atrophy, a mechanism of pathogenesis pertinent to the possible etiology of ALS. IS - 1 JF - Cell SN - 0092-8674 EP - 46 TI - Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis. VL - 73 SP - 35 KW - als KW - mnd KW - model KW - mouse KW - neurofilament AU - Côté, F AU - Collard, JF AU - Julien, JP PY - 1993/04/09/ UR - http://view.ncbi.nlm.nih.gov/pubmed/8462101 ER -