Ankyrin-B Defects
نویسندگان
چکیده
منابع مشابه
Defects in ankyrin-based cellular pathways in metazoan physiology.
Ankyrins are a ubiquitously expressed family of membrane-adaptor proteins found in most vertebrate tissues. Since the first ankyrin polypeptide was identified over 25 years ago, studies in humans, mice, and lower organisms have implicated critical roles for ankyrins in normal metazoan physiology. This review will provide an overview of the ankyrin family and highlight seminal findings in the fi...
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Ankyrin polypeptides are critical for normal membrane protein expression in diverse cell types, including neurons, myocytes, epithelia, and erythrocytes. Ankyrin dysfunction results in defects in membrane expression of ankyrin-binding partners (including ion channels, transporters, and cell adhesion molecules), resulting in aberrant cellular function and disease. Here, we identify a new role fo...
متن کاملStructure of the ZU5-ZU5-UPA-DD tandem of ankyrin-B reveals interaction surfaces necessary for ankyrin function.
Ankyrin-R/B/G (encoded by ANK1/2/3, respectively) are a family of very large scaffold proteins capable of anchoring numerous receptors and ion channels to specific, spectrin-containing membrane micro-domains. Hereditary mutations of ankyrins are known to be associated with diseases including spherocytosis, cardiac arrhythmia, and bipolar disorder in humans, although the underlying molecular bas...
متن کاملIndispensable role for the eukaryotic-like ankyrin domains of the ankyrin B effector of Legionella pneumophila within macrophages and amoebae.
The Dot/Icm-translocated ankyrin B (AnkB) effector of Legionella pneumophila exhibits molecular mimicry of eukaryotic F-box proteins and is essential for intracellular replication in macrophages and protozoa. In addition to two eukaryotic-like ankyrin (ANK) domains, AnkB harbors a conserved eukaryotic F-box domain, which is involved in polyubiquitination of proteins throughout the eukaryotic ki...
متن کاملDefects in ankyrin-based membrane protein targeting pathways underlie atrial fibrillation.
BACKGROUND Atrial fibrillation (AF) is the most common cardiac arrhythmia, affecting >2 million patients in the United States alone. Despite decades of research, surprisingly little is known regarding the molecular pathways underlying the pathogenesis of AF. ANK2 encodes ankyrin-B, a multifunctional adapter molecule implicated in membrane targeting of ion channels, transporters, and signaling m...
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ژورنال
عنوان ژورنال: Circulation: Cardiovascular Genetics
سال: 2017
ISSN: 1942-325X,1942-3268
DOI: 10.1161/circgenetics.117.001698