Literature DB >> 22931061

Novel SLC9A6 mutations in two families with Christianson syndrome.

A Riess, E Rossier, R Krüger, A Dufke, S Beck-Woedl, V Horber, M Alber, D Gläser, O Riess, A Tzschach.   

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Year:  2012        PMID： 22931061     DOI： 10.1111/j.1399-0004.2012.01948.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  13 in total

1.  Next-generation sequencing in X-linked intellectual disability.

Authors:  Andreas Tzschach; Ute Grasshoff; Stefanie Beck-Woedl; Claudia Dufke; Claudia Bauer; Martin Kehrer; Christina Evers; Ute Moog; Barbara Oehl-Jaschkowitz; Nataliya Di Donato; Robert Maiwald; Christine Jung; Alma Kuechler; Solveig Schulz; Peter Meinecke; Stephanie Spranger; Jürgen Kohlhase; Jörg Seidel; Silke Reif; Manuela Rieger; Angelika Riess; Marc Sturm; Julia Bickmann; Christopher Schroeder; Andreas Dufke; Olaf Riess; Peter Bauer
Journal:  Eur J Hum Genet       Date:  2015-02-04       Impact factor: 4.246

2.  Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome.

Authors:  Alina Ilie; Annie Boucher; Jaeok Park; Albert Marinus Berghuis; R Anne McKinney; John Orlowski
Journal:  J Biol Chem       Date:  2020-04-10       Impact factor: 5.157

3.  Complex Neurological Phenotype in Female Carriers of NHE6 Mutations.

Authors:  Matthew F Pescosolido; Brian C Kavanaugh; Nathalie Pochet; Michael Schmidt; Beth A Jerskey; Jeffrey M Rogg; Philip L De Jager; Tracy L Young-Pearse; Judy S Liu; Eric M Morrow
Journal:  Mol Neuropsychiatry       Date:  2019-03-06

4.  Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.

Authors:  Matthew F Pescosolido; David M Stein; Michael Schmidt; Christelle Moufawad El Achkar; Mark Sabbagh; Jeffrey M Rogg; Umadevi Tantravahi; Rebecca L McLean; Judy S Liu; Annapurna Poduri; Eric M Morrow
Journal:  Ann Neurol       Date:  2014-09-19       Impact factor: 10.422

Review 5.  Emerging roles of Na⁺/H⁺ exchangers in epilepsy and developmental brain disorders.

Authors:  Hanshu Zhao; Karen E Carney; Lindsay Falgoust; Jullie W Pan; Dandan Sun; Zhongling Zhang
Journal:  Prog Neurobiol       Date:  2016-03-08       Impact factor: 11.685

Review 6.  The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.

Authors:  Pierre Sinajon; Deborah Verbaan; Joyce So
Journal:  Hum Genet       Date:  2016-05-03       Impact factor: 4.132

7.  Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments.

Authors:  Mallory Kerner-Rossi; Maria Gulinello; Steven Walkley; Kostantin Dobrenis
Journal:  Neurobiol Learn Mem       Date:  2018-05-14       Impact factor: 2.877

8.  A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.

Authors:  Alina Ilie; Andy Y L Gao; Jonathan Reid; Annie Boucher; Cassandra McEwan; Hervé Barrière; Gergely L Lukacs; R Anne McKinney; John Orlowski
Journal:  Mol Neurodegener       Date:  2016-09-02       Impact factor: 14.195

Review 9.  An inside job: how endosomal Na(+)/H(+) exchangers link to autism and neurological disease.

Authors:  Kalyan C Kondapalli; Hari Prasad; Rajini Rao
Journal:  Front Cell Neurosci       Date:  2014-06-23       Impact factor: 5.505

10.  Functional Assessment In Vivo of the Mouse Homolog of the Human Ala-9-Ser NHE6 Variant.

Authors:  Qing Ouyang; Lena Joesch-Cohen; Sasmita Mishra; Hasib A Riaz; Michael Schmidt; Eric M Morrow
Journal:  eNeuro       Date:  2019-12-04
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