The Location of HumanCASKat Xp11.4 Identifies This Gene as a Candidate for X-Linked Optic Atrophy
Author:
Publisher
Elsevier BV
Subject
Genetics
Reference5 articles.
1. A gene for X-linked optic atrophy is closely linked to the Xp11.4–Xp11.2 region of the X chromosome;Assink;Am. J. Hum. Genet.,1997
2. Camguk, Lin-2, and CASK: Novel membrane-associated guanylate kinase homologs that also contain CaM kinase domains;Dimitratos;Mech. Dev.,1997
3. CASK: A noveldlg;Hata;J. Neurosci.,1996
4. A newDrosophila2+;Martin;EMBO J.,1996
5. Linkage analysis of X-Linked Cone-Rod Dystrophy: Localization to Xp11.4 and definition of a locus distinct from RP2 and RP3;Seymour;Am. J. Hum. Genet.,1998
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2. Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome;Cells;2023-04-18
3. CASK and FARP localize two classes of post-synaptic ACh receptors thereby promoting cholinergic transmission;PLOS Genetics;2022-10-24
4. Case Report: Identification of a novel CASK missense variant in a Chinese family with MICPCH;Frontiers in Genetics;2022-08-25
5. A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review;Italian Journal of Pediatrics;2022-05-12
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