What can naturally occurring mutations tell us about Cav1.x channel function?

Biochimica et Biophysica Acta - Biomembranes

Volumn 1828, Issue 7, 2013, Pages 1598-1607

  Stockner, Thomas ^a   Koschak, Alexandra ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

Channelopathy; Homology modeling; L type calcium channel; Structure function analysis

Indexed keywords

CALCIUM CHANNEL L TYPE; CAV1.2 ALPHA1 CHANNEL; CAV1.3 ALPHA1 CHANNEL; CAV1.4 ALPHA1 CHANNEL; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL;

BRUGADA SYNDROME; CALCIUM CHANNELOPATHY; CARBOXY TERMINAL SEQUENCE; CAV1.2 ALPHA1 CHANNEL GENE; CAV1.3 ALPHA1 CHANNEL GENE; CAV1.4 ALPHA1 CHANNEL GENE; DNA SEQUENCE; GAIN OF FUNCTION MUTATION; GENE FUNCTION; GENETIC ASSOCIATION; HEARING IMPAIRMENT; HUMAN; LOSS OF FUNCTION MUTATION; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; MUTATOR GENE; NEGATIVE FEEDBACK; NIGHT BLINDNESS; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; SEQUENCE ALIGNMENT; SINUS NODE DISEASE; STRUCTURAL HOMOLOGY; STRUCTURE ACTIVITY RELATION; STRUCTURE ANALYSIS; TIMOTHY SYNDROME;

AMINO ACID SEQUENCE; CALCIUM; CALCIUM CHANNELS, L-TYPE; CHANNELOPATHIES; HUMANS; ION CHANNEL GATING; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE HOMOLOGY, AMINO ACID;

PHLEUM PRATENSE;

EID: 84876910647     PISSN: 00052736     EISSN: 18792642     Source Type: Journal    
DOI: 10.1016/j.bbamem.2012.11.026     Document Type: Review

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