PMID: 8462101Apr 9, 1993Paper

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

Cell
F CôtéJ P Julien

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.

Citations

Sep 2, 1998·The Journal of Experimental Zoology·B M MorrisonJ W Gordon
May 15, 1998·Developmental Genetics·G Bernier, R Kothary
Feb 23, 2000·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·M E Gurney
Jan 1, 1995·Cell Motility and the Cytoskeleton·J M Andreoli, K T Trevor
Apr 12, 2002·Journal of Neuroscience Research·Györgyi SzebenyiScott T Brady
Oct 15, 1994·Journal of Neuroscience Research·D W SicklesA Testino
Dec 1, 1996·Cancer Metastasis Reviews·C L Ho, R K Liem
Jan 1, 1995·Acta Neuropathologica·D A HiltonP Newman
Jan 1, 1995·Acta Neuropathologica·I K TakeuchiY K Takeuchi
Mar 1, 1996·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·A AguzziJ P Steinbach
Sep 24, 1999·Molecular Neurobiology·T J Kilpatrick, M Soilu-Hänninen
Mar 8, 2006·Acta Neuropathologica·Oliver WirthsThomas A Bayer
Mar 30, 2013·Molecular Genetics and Genomics : MGG·Jakob Maximilian MoserThomas Schmitt-John
Mar 20, 2002·Current Neurology and Neuroscience Reports·C E ShawN Leigh
Aug 1, 1996·Journal of the Neurological Sciences·S M ChouA Taniguchi
Dec 1, 1994·Brain Research. Molecular Brain Research·M L SchwartzW W Schlaepfer
Oct 1, 1994·Brain Research. Molecular Brain Research·F CôtéJ P Julien
Sep 1, 1995·Brain Research. Molecular Brain Research·C HsuM J Monteiro
Jun 1, 1996·Brain Research. Molecular Brain Research·R Pernas-AlonsoU di Porzio
Nov 1, 1995·Neurobiology of Aging·T OkazakiN Mori
Feb 1, 1995·Current Opinion in Cell Biology·W H McLean, E B Lane
Oct 1, 1994·Current Opinion in Neurobiology·Z XuD W Cleveland
Sep 1, 1994·Trends in Cell Biology·E FuchsQ C Yu

❮ Previous
Next ❯

Related Concepts

Related Feeds

Amyloid Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a progressive nervous system disease associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.

ALS: Genetics

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating genetic alterations in this genetically heterogeneous disorder.

ALS: Genetics

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

Cell eTOC

Cell is a scientific journal publishing research across a broad range of disciplines within the life sciences field. Discover the latest research from Cell here.