Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype-Reference-Cited by-同舟云学术

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Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype

Published:2014-12-30 Issue:8 Volume:24 Page:2163-2174
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Adebola Adijat A.,Di Castri Theo,He Chui-Zhen,Salvatierra Laura A.,Zhao Jian,Brown Kristy,Lin Chyuan-Sheng,Worman Howard J.,Liem Ronald K.H.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/24/8/2163/14147529/ddu736.pdf

Reference33 articles.

1. Dysfunctions of neuronal and glial intermediate filaments in disease;Liem;J. Clin. Invest.,2009

2. Axonal Charcot-Marie-Tooth disease;Shy;Curr. Opin. Neurol.,2011

3. Disease mechanisms in inherited neuropathies;Suter;Nat. Rev. Neurosci.,2003

4. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations;Dyck;Arch. Neurol.,1968

5. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies;Dyck;Arch. Neurol.,1968

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1. Neurofilament Light Protein Rod Domain Exhibits Structural Heterogeneity;Biomolecules;2024-01-09

2. Neurofilaments in health and Charcot-Marie-Tooth disease;Frontiers in Cell and Developmental Biology;2023-12-18

3. O-GlcNAcylation regulates neurofilament-light assembly and function and is perturbed by Charcot-Marie-Tooth disease mutations;Nature Communications;2023-10-17

4. Effect of neurodegenerative mutations in NEFL gene on thermal denaturation of the neurofilament light chain protein;Биохимия;2023-05-15

5. A New Mouse Model of Giant Axonal Neuropathy with Overt Phenotypes and Neurodegeneration Driven by Neurofilament Disorganization;The Journal of Neuroscience;2023-05-03

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