The G336S variant in the human neurofilament-M gene does not affect its assembly or distribution: importance of the functional analysis of neurofilament variants (Q28275359)

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English	The G336S variant in the human neurofilament-M gene does not affect its assembly or distribution: importance of the functional analysis of neurofilament variants	scientific article

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The G336S variant in the human neurofilament-M gene does not affect its assembly or distribution: importance of the functional analysis of neurofilament variants (English)

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author name string

Raul Perez-Olle

1

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Miguel A Lopez-Toledano

2

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Ronald K H Liem

3

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language of work or name

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publication date

July 2004

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Journal of Neuropathology & Experimental Neurology

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63

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7

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759-74

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Recent advances in the genetics and pathogenesis of Parkinson disease

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Parkinson's disease: mechanisms and models

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Impaired axonal transport of cortical neurons in Alzheimer's disease is associated with neuropathological changes

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Aggregation of neurofilament and alpha-synuclein proteins in Lewy bodies: implications for the pathogenesis of Parkinson disease and Lewy body dementia

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Slowing of axonal transport is a very early event in the toxicity of ALS-linked SOD1 mutants to motor neurons

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The role of axonal cytoskeleton in diabetic neuropathy

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Patients with a novel neurofilamentopathy: dementia with neurofilament inclusions.

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Neurofilament inclusion body disease: a new proteinopathy?

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A mutation in the human neurofilament M gene in Parkinson's disease that suggests a role for the cytoskeleton in neuronal degeneration

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A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

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Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation

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Neuroprotective and neurorestorative strategies for Parkinson's disease

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Pathways to motor neuron degeneration in transgenic mouse models

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Disruption of cellular transport: a common cause of neurodegeneration?

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Phosphorylation of the high molecular weight neurofilament protein (NF-H) by Cdk5 and p35

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Regulated expression of vimentin cDNA in cells in the presence and absence of a preexisting vimentin filament network

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Characterization of a panel of neurofilament antibodies recognizing N-terminal epitopes

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Rapid movement of axonal neurofilaments interrupted by prolonged pauses

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Overexpression of neurofilament H disrupts normal cell structure and function

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From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS

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Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

1 reference

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Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport.

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Fatal attractions: abnormal protein aggregation and neuron death in Parkinson's disease and Lewy body dementia

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Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease.

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Mutation analysis of the neurofilament M gene in Parkinson's disease

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Kinesin motors and disease

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Neurotrophin-3 prevents the proximal accumulation of neurofilament proteins in sensory neurons of streptozocin-induced diabetic rats.

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Neuronal degeneration and mitochondrial dysfunction

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Early upregulation of medium neurofilament gene expression in developing spinal cord of the wobbler mouse mutant.

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Regionalized neurofilament accumulation and motoneuron degeneration are linked phenotypes in wobbler neuromuscular disease

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Early mitochondrial dysfunction occurs in motor cortex and spinal cord at the onset of disease in the Wobbler mouse

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APP on the move.

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Axonal transport of mutant superoxide dismutase 1 and focal axonal abnormalities in the proximal axons of transgenic mice.

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Cdk5 behind the wheel: a role in trafficking and transport?

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p35nck5a and cyclin-dependent kinase 5 colocalize in Lewy bodies of brains with Parkinson's disease.

1 reference

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Cdk5 and MAPK are associated with complexes of cytoskeletal proteins in rat brain

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Animal models of Parkinson's disease.

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Molecular mechanisms of selective dopaminergic neuronal death in Parkinson's disease

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A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family

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10.1093/JNEN/63.7.759

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