eISSN: 1896-9151
ISSN: 1734-1922
Archives of Medical Science
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4/2020
vol. 16
 
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Immunology
abstract:
State of the art paper

Ankyrins in human health and disease – an update of recent experimental findings

Damian B. Chagula
1
,
Tomasz Rechciński
2
,
Karolina Rudnicka
1
,
Magdalena Chmiela
1

1.
Laboratory of Gastroimmunology, Department of Immunology and Infectious Biology, Faculty of Biology and Environmental Protection, University of Lodz, Poland
2.
Department of Cardiology, Bieganski Regional Speciality Hospital, Medical University of Lodz, Poland
Arch Med Sci 2020; 16 (4): 715–726
Online publish date: 2019/11/18
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Ankyrins are adaptor molecules that in eukaryotic cells form complexes with ion channel proteins, cell adhesion and signalling molecules and components of the cytoskeleton. They play a pivotal role as scaffolding proteins, in the structural anchoring to the muscle membrane, in muscle development, neurogenesis and synapse formation. Dysfunction of ankyrins is implicated in numerous diseases such as hereditary spherocytosis, neurodegeneration of Purkinje cells, cardiac arrhythmia, Brugada syndrome, bipolar disorders and schizophrenia, congenital myopathies and congenital heart disease as well as cancers. Detecting either down- or over-expression of ankyrins and ergo their use as biomarkers can provide a new paradigm in the diagnosis of these diseases. This paper provides an outline of knowledge about the structure of ankyrins, and by making use of recent experimental research studies critically discusses their role in several health disorders. Moreover, therapeutic options utilizing engineered ankyrins, designed ankyrin repeat proteins (DARPins), are discussed.
keywords:

ankyrin-related diseases, DARPins, adaptor proteins

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