X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities
Christianson syndrome (CS) is an X-linked neurodevelopmental and neurological disorder characterized in males by core symptoms that include non-verbal status, intellectual disability, epilepsy, truncal ataxia, postnatal microcephaly and hyperkinesis. CS is caused by mutations in the SLC9A6 gene, whi...
Main Authors: | Jakub Sikora, Jennifer Leddy, Maria Gulinello, Steven U. Walkley |
---|---|
Format: | Article |
Language: | English |
Published: |
The Company of Biologists
2016-01-01
|
Series: | Disease Models & Mechanisms |
Subjects: | |
Online Access: | http://dmm.biologists.org/content/9/1/13 |
Similar Items
-
A Christianson syndrome-linked deletion mutation (Δ287ES288) in SLC9A6 impairs hippocampal neuronal plasticity
by: Andy Y.L. Gao, et al.
Published: (2019-10-01) -
A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome
by: Alina Ilie, et al.
Published: (2019-01-01) -
Genistein Induces Increase in Fluid pH, Na+ and HCO3− Concentration, SLC26A6 and SLC4A4 (NBCe1)-B Expression in the Uteri of Ovariectomized Rats
by: Asma Chinigarzadeh, et al.
Published: (2014-01-01) -
Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report
by: Taifeng Zhou, et al.
Published: (2018-05-01) -
Functional characterization of the SLC38 transporters SNAT6, SNAT8 and SNAT10 using CRISPR-Cas9 knockout in vitro
by: Holmberg, Alfred
Published: (2020)