TY - JOUR
T1 - Genetic analysis of voltage-dependent calcium channels
AU - Fletcher, Colin F.
AU - Copeland, Neal G.
AU - Jenkins, Nancy A.
N1 - Funding Information:
We thank the members of the Copeland/Jenkins lab for helpful comments on the manuscript and Huda Zoghbi and Raymond Lee for sharing information prior to publication. This work was supported by the National Cancer Institute, DHHS, under contract with ABL.
Copyright:
Copyright 2007 Elsevier B.V., All rights reserved.
PY - 1998
Y1 - 1998
N2 - Molecular cloning of calcium channel subunit genes has identified an unexpectedly large number of genes and splicing variants, and a central problem of calcium channel biology is to now understand the functional significance of this genetic complexity. While electrophyisological, pharmacological, and molecular cloning techniques are providing one level of understanding, a complete understanding will require many additional kinds of studies, including genetic studies done in intact animals. In this regard, an intriguing variety of episodic diseases have recently been identified that result from defects in calcium channel genes. A study of these diseases illustrates the kind of insights into calcium channel function that can be expected from this method of inquiry.
AB - Molecular cloning of calcium channel subunit genes has identified an unexpectedly large number of genes and splicing variants, and a central problem of calcium channel biology is to now understand the functional significance of this genetic complexity. While electrophyisological, pharmacological, and molecular cloning techniques are providing one level of understanding, a complete understanding will require many additional kinds of studies, including genetic studies done in intact animals. In this regard, an intriguing variety of episodic diseases have recently been identified that result from defects in calcium channel genes. A study of these diseases illustrates the kind of insights into calcium channel function that can be expected from this method of inquiry.
KW - Calcium release channels
KW - Disease loci
KW - Mutations
KW - Paroxsymal disorders
KW - Triplet repeats
KW - Voltage-dependent calcium channels
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U2 - 10.1023/A:1021993723565
DO - 10.1023/A:1021993723565
M3 - Short survey
C2 - 9758334
AN - SCOPUS:0031671727
SN - 0145-479X
VL - 30
SP - 387
EP - 398
JO - Journal of Bioenergetics and Biomembranes
JF - Journal of Bioenergetics and Biomembranes
IS - 4
ER -