Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected Families Alter Calcium Channel Function
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2012, Prevalence of autism spectrum disorders–Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008, MMWR Surveill Summ, 61, 1
I Splawski, 2004, Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism, Cell, 119, 19, 10.1016/j.cell.2004.09.011
L Birnbaumer, 1998, Structures and functions of calcium channel beta subunits, J Bioenerg Biomembr, 30, 357, 10.1023/A:1021989622656
SX Takahashi, 2003, Distinctive modulatory effects of five human auxiliary beta2 subunit splice variants on L-type calcium channel gating, Biophys J, 84, 3007, 10.1016/S0006-3495(03)70027-7
A Ludwig, 1997, Regional expression and cellular localization of the alpha1 and beta subunit of high voltage-activated calcium channels in rat brain, J Neurosci, 17, 1339, 10.1523/JNEUROSCI.17-04-01339.1997
W Jangsangthong, 2009, Inactivation of L-type calcium channels is determined by the length of the N terminus of mutant beta(1) subunits, Pflugers Arch, 459, 399, 10.1007/s00424-009-0738-z
T Cens, 1996, Modulation of the alpha 1A Ca2+ channel by beta subunits at physiological Ca2+ concentration, FEBS Lett, 391, 232, 10.1016/0014-5793(96)00704-1
S Herzig, 2007, Mechanism of Ca(v)1.2 channel modulation by the amino terminus of cardiac beta2-subunits, FASEB J, 21, 1527, 10.1096/fj.06-7377com
W Jangsangthong, 2010, Inactivation of L-type calcium channels is determined by the length of the N terminus of mutant beta(1) subunits, Pflugers Arch, 459, 399, 10.1007/s00424-009-0738-z
Z Buraei, 2010, The b subunit of voltage-gated Ca2+ channels, Physiol Rev, 90, 1461, 10.1152/physrev.00057.2009
MW McEnery, 1998, Differential expression and association of calcium channel subunits in development and disease, J Bioenerg Biomembr, 30, 409, 10.1023/A:1021997924473
BJ O’Roak, 2012, Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations, Nature, 485, 246, 10.1038/nature10989
A Hemara-Wahanui, 2005, A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation, Proc Natl Acad Sci U S A, 102, 7553, 10.1073/pnas.0501907102
SP Strom, 2010, High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene, Mol Psychiatry, 15, 996, 10.1038/mp.2009.41
I Splawski, 2006, CACNA1H mutations in autism spectrum disorders, J Biol Chem, 281, 22085, 10.1074/jbc.M603316200
Limpitikul W, Johny MB, Yue DT (2013) Autism-Associated Point Mutation in CaV1.3 Calcium Channels alters their Regulation by Ca2+ [Abstract]. Biophys J 104.
I Splawski, 2005, Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations, Proc Natl Acad Sci U S A, 102, 8089, 10.1073/pnas.0502506102
JF Krey, 2013, Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons, Nature Neuroscience, 16, 201, 10.1038/nn.3307
I Iossifov, 2008, Genetic-linkage mapping of complex hereditary disorders to a whole-genome molecular-interaction network, Genome Res, 18, 1150, 10.1101/gr.075622.107
SG Volsen, 1997, The expression of voltage-dependent calcium channel beta subunits in human cerebellum, Neuroscience, 80, 161, 10.1016/S0306-4522(97)00115-2
TA Trikalinos, 2006, A heterogeneity-based genome search meta-analysis for autism-spectrum disorders, Mol Psychiatry, 11, 29, 10.1038/sj.mp.4001750
2013, Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis, The Lancet, 381, 1371, 10.1016/S0140-6736(12)62129-1
C Lintas, 2010, Association of autism with polyomavirus infection in postmortem brains, J Neurovirol, 16, 141, 10.3109/13550281003685839
DH Geschwind, 2001, The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions, Am J Hum Genet, 69, 463, 10.1086/321292
C Lord, 1994, Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders, J Autism Dev Disord, 24, 659, 10.1007/BF02172145
C Lord, 2000, The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism, J Autism Dev Disord, 30, 205, 10.1023/A:1005592401947
CE Glatt, 2001, Screening a large reference sample to identify very low frequency sequence variants: comparisons between two genes, Nat Genet, 27, 435, 10.1038/86948
K Leineweber, 2007, In patients chronically treated with metoprolol, the demand of inotropic catecholamine support after coronary artery bypass grafting is determined by the Arg389Gly-beta 1-adrenoceptor polymorphism, Naunyn Schmiedebergs Arch Pharmacol, 375, 303, 10.1007/s00210-007-0166-6
D Schultz, 1993, Cloning, chromosomal localization, and functional expression of the alpha 1 subunit of the L-type voltage-dependent calcium channel from normal human heart, Proc Natl Acad Sci U S A, 90, 6228, 10.1073/pnas.90.13.6228
L Schleithoff, 1999, Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2), Genomics, 61, 201, 10.1006/geno.1999.5941
M Karmazinova, 2010, Measurement of cellular excitability by whole cell patch clamp technique, Physiol Res, 59, S1, 10.33549/physiolres.932000
JD Foell, 2004, Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization, Physiol Genomics, 17, 183, 10.1152/physiolgenomics.00207.2003
AP Feinberg, 2010, Genome-scale approaches to the epigenetics of common human disease, Virchows Arch, 456, 13, 10.1007/s00428-009-0847-2
KJ Mitchell, 2011, The genetics of neurodevelopmental disease, Curr Opin Neurobiol, 21, 197, 10.1016/j.conb.2010.08.009
DH Geschwind, 2011, Genetics of autism spectrum disorders, Trends Cogn Sci, 15, 409, 10.1016/j.tics.2011.07.003
HM Colecraft, 2002, Novel functional properties of Ca(2+) channel beta subunits revealed by their expression in adult rat heart cells, J Physiol, 541, 435, 10.1113/jphysiol.2002.018515
E Miranda-Laferte, 2012, A short polybasic segment between the two conserved domains of the beta2a-subunit modulates the rate of inactivation of R-type calcium channel, J Biol Chem, 287, 32588, 10.1074/jbc.M112.362509
LL He, 2007, Functional modularity of the beta-subunit of voltage-gated Ca2+ channels, Biophys J, 93, 834, 10.1529/biophysj.106.101691
CF Barrett, 2008, The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels, Proc Natl Acad Sci U S A, 105, 2157, 10.1073/pnas.0710501105
DH Geschwind, 2008, Autism: many genes, common pathways?, Cell, 135, 391, 10.1016/j.cell.2008.10.016
SE Folstein, 2001, Genetics of autism: complex aetiology for a heterogeneous disorder, Nat Rev Genet, 2, 943, 10.1038/35103559
CS Leblond, 2012, Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders, PLoS Genet, 8, e1002521, 10.1371/journal.pgen.1002521
BS Abrahams, 2008, Advances in autism genetics: on the threshold of a new neurobiology, Nat Rev Genet, 9, 341, 10.1038/nrg2346
E Ben-David, 2012, Networks of neuronal genes affected by common and rare variants in autism spectrum disorders, PLoS Genet, 8, e1002556, 10.1371/journal.pgen.1002556
Skafidas E, Testa R, Zantomio D, Chana G, Everall IP, et al. (Sept 11, 2012) Predicting the diagnosis of autism spectrum disorder using gene pathway analysis. Mol Psychiatry: 10.1038/mp.2012.1126.
PL Bader, 2011, Mouse model of Timothy syndrome recapitulates triad of autistic traits, Proc Natl Acad Sci U S A, 108, 15432, 10.1073/pnas.1112667108