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NEFL gene

Known as: protein phosphatase 1, regulatory subunit 110, NEUROFILAMENT PROTEIN, LIGHT CHAIN, NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE 
This gene is involved in the structure of neuronal processes.
National Institutes of Health

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Cell MovementCytokinesisMuscle ContractionNEFL protein, human

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NEFL wt Allele

Papers overview

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2020
2020
A Pro22Ser Mutation in NEFL Results in Charcot-Marie-Tooth Disease in a Chinese Family
The purpose of this study was to describe a pedigree with NEFL (c.64C>T, p. Pro22Ser, NM_006158) mutation which results in CMT… 
2016
2016
EXPRESSION CHANGES IN FOUR GENES AFFECTING GAMMA-SECRETASE AND PROCESSING OF THE AMYLOID PRECURSOR PROTEIN
Background:Mitochondrial dysfunction is a critical component in the pathogenesis of Alzheimer’s Disease (AD) where deficits in… 
2012
2012
Chechen Use of the Internet in the Russo-Chechen Conflict
Abstract : The emergence of the Internet as a global information network has impacted the conduct of information operations. In… 
2012
2012
Modulation de la forme des fibres keratiniques
La presente invention concerne notamment un procede de traitement cosmetique des fibres keratiniques chez un mammifere en vue de… 
2012
2012
Cancer Genes and Genomics Role of Neuro fi lament Light Polypeptide in Head and Neck Cancer Chemoresistance
Resistance to cisplatin-based chemotherapy is responsible for therapeutic failure of many common human cancers including cancer… 
2011
2011
Molecular diagnosis and clinical onset of Charcot–Marie–Tooth disease in Japan
Correction to: Journal of Human Genetics (2011) 56, 364–368; doi:10.1038/jhg.2011.20; published online 17 February 2011 
2011
2011
Análise mutacional dos genes MFN2 e NEFL em pacientes com a doença de Charcot-Marie-Tooth tipo2
2011
2011
Mutational analysis of LITAF, EGR2 and NEFL genes in a Brazilian population of Charcot-Marie-Tooth neuropathy type I
2006
2006
Umbilical Cord Blood Cells Express mRNA for Neuronal Genes MAP2 and NEFL.
Hematopoietic tissue-derived cells including stem cells have been shown to differentiate into or fuse with solid organ tissue… 
2004
2004
Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan