Molecular defects in the dysmyelinating mutantquaking

Autor:	Rebecca J. Hardy
Rok vydání:	1998
Předmět:	Genetics Cloning Cellular and Molecular Neuroscience Candidate gene medicine.anatomical_structure Mutant Central nervous system Myelinogenesis medicine Context (language use) Biology Phenotype KH domain
Zdroj:	Journal of Neuroscience Research. 51:417-422
ISSN:	1097-4547 0360-4012
DOI:	10.1002/(sici)1097-4547(19980215)51:4<417::aid-jnr1>3.0.co;2-f
Popis:	The quaking [or quakingviable (qkv)] mutant mouse, which exhibits severe dysmyelination of the central nervous system (CNS), has been studied extensively over the last 30 years. The genetic defect responsible for the dysmyelinating phenotype had remained elusive, however, until the recent cloning of a candidate gene, qkI (Ebersole et al.: Nature Genet 12:260–265, 1996). qkI encodes three proteins, QKI-5, QKI-6, and QKI-7, which are abundant in myelin-forming cells in wild-type mice but whose levels are severely reduced in myelin-forming cells of qkv mice, consistent with the notion that abnormalities of qkI expression underlie the qkv phenotype. This review discusses some of the known molecular defects in qkv in the context of this new information and the potential role of QKI proteins in myelinogenesis. J. Neurosci. Res. 51:417–422, 1998. © 1998 Wiley-Liss, Inc.
Databáze:	OpenAIRE
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