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

Charcot-Marie-Tooth disease (CMT) is the most commonly inherited neurological disorder with a prevalence of 1 in 2500 people worldwide. Patients suffer from degeneration of the peripheral nerves that control sensory information of the foot/leg and hand/arm. Multiple mutations in the neurofilament li...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human molecular genetics 2015-04, Vol.24 (8), p.2163-2174
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - metabolism Disease Models, Animal Female Gene Knock-In Techniques Humans Intermediate Filaments - chemistry Intermediate Filaments - genetics Intermediate Filaments - metabolism Male Mice Mice, Transgenic Motor Neurons - metabolism Mutation, Missense Neurofilament Proteins - genetics Neurofilament Proteins - metabolism Spinal Cord - metabolism
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!