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Sleep and daytime behavior in individuals with Christianson Syndrome.
Gruber R, Scholes S, Bertone A, McKinney RA, Orlowski J, Wise MS. Gruber R, et al. Sleep Med. 2022 Jan;89:55-59. doi: 10.1016/j.sleep.2021.11.007. Epub 2021 Nov 20. Sleep Med. 2022. PMID: 34883399
BACKGROUND: The objectives of this study were to: 1) characterize the sleep behaviors and symptoms of individuals with Christianson Syndrome (CS) by means of validated questionnaires; and 2) determine their associations with daytime emotional and behavioral symptoms …
BACKGROUND: The objectives of this study were to: 1) characterize the sleep behaviors and symptoms of individuals with Christianson …
A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome.
Ilie A, Gao AYL, Boucher A, Park J, Berghuis AM, Hoffer MJV, Hilhorst-Hofstee Y, McKinney RA, Orlowski J. Ilie A, et al. Neurobiol Dis. 2019 Jan;121:187-204. doi: 10.1016/j.nbd.2018.10.002. Epub 2018 Oct 5. Neurobiol Dis. 2019. PMID: 30296617
Loss-of-function mutations in the recycling endosomal (Na(+),K(+))/H(+) exchanger gene SLC9A6/NHE6 result in overacidification and dysfunction of endosomal-lysosomal compartments, and cause a neurodevelopmental and degenerative form of X-linked intellectual disability called C …
Loss-of-function mutations in the recycling endosomal (Na(+),K(+))/H(+) exchanger gene SLC9A6/NHE6 result in overacidification and dysfuncti …
A Christianson syndrome-linked deletion mutation ((287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.
Ilie A, Gao AY, Reid J, Boucher A, McEwan C, Barrière H, Lukacs GL, McKinney RA, Orlowski J. Ilie A, et al. Mol Neurodegener. 2016 Sep 2;11(1):63. doi: 10.1186/s13024-016-0129-9. Mol Neurodegener. 2016. PMID: 27590723 Free PMC article.
BACKGROUND: Christianson Syndrome, a recently identified X-linked neurodevelopmental disorder, is caused by mutations in the human gene SLC9A6 encoding the recycling endosomal alkali cation/proton exchanger NHE6. ...CONCLUSIONS: These results suggest that loss-of-fu …
BACKGROUND: Christianson Syndrome, a recently identified X-linked neurodevelopmental disorder, is caused by mutations in the h …
Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson syndrome.
Petitjean H, Fatima T, Mouchbahani-Constance S, Davidova A, Ferland CE, Orlowski J, Sharif-Naeini R. Petitjean H, et al. Pain. 2020 Nov;161(11):2619-2628. doi: 10.1097/j.pain.0000000000001961. Pain. 2020. PMID: 32569089 Free PMC article.
Children diagnosed with Christianson syndrome (CS), a rare X-linked neurodevelopmental disorder characterized by intellectual disability, epilepsy, ataxia, and mutism, also suffer from hyposensitivity to pain. This places them at risk of sustaining serious injuries …
Children diagnosed with Christianson syndrome (CS), a rare X-linked neurodevelopmental disorder characterized by intellectual …
Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
Mathieu ML, de Bellescize J, Till M, Flurin V, Labalme A, Chatron N, Sanlaville D, Chemaly N, des Portes V, Ostrowsky K, Arzimanoglou A, Lesca G. Mathieu ML, et al. Eur J Paediatr Neurol. 2018 Nov;22(6):1124-1132. doi: 10.1016/j.ejpn.2018.07.004. Epub 2018 Jul 21. Eur J Paediatr Neurol. 2018. PMID: 30126759
Christianson syndrome (CS) is a X-linked neurodevelopmental disorder, including severe intellectual disability (ID), progressive microcephaly, ataxia, autistic behaviour (ASD), near absent speech, and epilepsy. ...We describe five male patients from three unrelated …
Christianson syndrome (CS) is a X-linked neurodevelopmental disorder, including severe intellectual disability (ID), progressi …
The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.
Sinajon P, Verbaan D, So J. Sinajon P, et al. Hum Genet. 2016 Aug;135(8):841-50. doi: 10.1007/s00439-016-1675-5. Epub 2016 May 3. Hum Genet. 2016. PMID: 27142213 Review.
Christianson syndrome (OMIM 300243), caused by mutations in the X-linked SLC9A6 gene, is characterized by severe global developmental delay and intellectual disability, developmental regression, epilepsy, microcephaly and impaired ocular movements. ...There is littl …
Christianson syndrome (OMIM 300243), caused by mutations in the X-linked SLC9A6 gene, is characterized by severe global develo …
Amyloid clearance defect in ApoE4 astrocytes is reversed by epigenetic correction of endosomal pH.
Prasad H, Rao R. Prasad H, et al. Proc Natl Acad Sci U S A. 2018 Jul 10;115(28):E6640-E6649. doi: 10.1073/pnas.1801612115. Epub 2018 Jun 26. Proc Natl Acad Sci U S A. 2018. PMID: 29946028 Free PMC article.
Thus, NHE6 is a downstream effector of ApoE4 and emerges as a promising therapeutic target in AD. These observations have prognostic implications for patients who have Christianson syndrome with loss of function mutations in NHE6 and exhibit prominent glial p …
Thus, NHE6 is a downstream effector of ApoE4 and emerges as a promising therapeutic target in AD. These observations have prognostic …