Ion Channels and Human Genetic Diseases

Physiology ◽  
1996 ◽  
Vol 11 (1) ◽  
pp. 36-42 ◽  
Author(s):  
CV Rojas
Keyword(s):  
Functional Analysis ◽  
Ion Channels ◽  
Structure Function ◽  
Genetic Diseases ◽  
Structure Function Relationship ◽  
Function Relationship ◽  
Relationship Of

Ion channels have lately received much attention by geneticists and molecular biologists owing to the discovery of several inherited human "ion channels disorders". Important contributions to the understanding not only of pathogenesis, but also of the structure-function relationship of ion channels, have come from the functional analysis of these natually occurring mutant channels.

scholarly journals Structure–Function Relationship and Physiological Roles of Transient Receptor Potential Canonical (TRPC) 4 and 5 Channels

Cells ◽  
2019 ◽  
Vol 9 (1) ◽  
pp. 73
Author(s):  
Jinsung Kim ◽  
Juyeon Ko ◽  
Chansik Hong ◽  
Insuk So
Keyword(s):  
Ion Channels ◽  
Structure Function ◽  
Transient Receptor Potential ◽  
Receptor Potential ◽  
Trpc Channels ◽  
Transient Receptor Potential Canonical ◽  
Structure Function Relationship ◽  
Transient Receptor ◽  
Function Relationship ◽  
Relationship Of

The study of the structure–function relationship of ion channels has been one of the most challenging goals in contemporary physiology. Revelation of the three-dimensional (3D) structure of ion channels has facilitated our understanding of many of the submolecular mechanisms inside ion channels, such as selective permeability, voltage dependency, agonist binding, and inter-subunit multimerization. Identifying the structure–function relationship of the ion channels is clinically important as well since only such knowledge can imbue potential therapeutics with practical possibilities. In a sense, recent advances in the understanding of the structure–relationship of transient receptor potential canonical (TRPC) channels look promising since human TRPC channels are calcium-permeable, non-selective cation channels expressed in many tissues such as the gastrointestinal (GI) tract, kidney, heart, vasculature, and brain. TRPC channels are known to regulate GI contractility and motility, pulmonary hypertension, right ventricular hypertrophy, podocyte injury, seizure, fear, anxiety-like behavior, and many others. In this article, we tried to elaborate recent findings of Cryo-EM (cryogenic-electron microscopy) based structural information of TRPC 4 and 5 channels and domain-specific functions of the channel, such as G-protein mediated activation mechanism, extracellular modification of the channel, homo/hetero-tetramerization, and pharmacological gating mechanisms.

Role of aromatic residues in the structure-function relationship of .alpha.-bungarotoxin

Biochemistry ◽  
1982 ◽  
Vol 21 (11) ◽  
pp. 2592-2600 ◽  
Author(s):  
Yee Hsiung Chen ◽  
Jang Chyi Tai ◽  
Wan Jen Huang ◽  
Ming Zong Lai ◽  
Mien Chie Hung ◽  
...  
Keyword(s):  
Structure Function ◽  
Aromatic Residues ◽  
Structure Function Relationship ◽  
Function Relationship ◽  
Alpha Bungarotoxin ◽  
Relationship Of

Gene cloning and structure - function relationship of cytokines such as TNF and interleukins

1987 ◽  
Vol 16 (3-4) ◽  
pp. 219-226 ◽  
Author(s):  
Walter Fiers ◽  
Rudi Beyaert ◽  
Peter Brouckaert ◽  
Bart Everaerdt ◽  
Guy Haegeman ◽  
...  
Keyword(s):  
Structure Function ◽  
Gene Cloning ◽  
Structure Function Relationship ◽  
Function Relationship ◽  
Relationship Of

scholarly journals Distribution and Structure-Function Relationship of Myosin Heavy Chain Isoforms in the Adult Mouse Heart

2007 ◽  
Vol 282 (33) ◽  
pp. 24057-24064 ◽  
Author(s):  
Maike Krenz ◽  
Sakthivel Sadayappan ◽  
Hanna E. Osinska ◽  
Jeffrey A. Henry ◽  
Samantha Beck ◽  
...  
Keyword(s):  
Structure Function ◽  
Myosin Heavy Chain ◽  
Heavy Chain ◽  
Adult Mouse ◽  
Myosin Heavy Chain Isoforms ◽  
Mouse Heart ◽  
Structure Function Relationship ◽  
Function Relationship ◽  
Relationship Of
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