Molecular mechanisms of autism: a possible role for Ca2+ signaling
Abstract
Autism spectrum disorders (ASDs) are a group of developmental disorders characterized by social and emotional deficits, language impairments and stereotyped behaviors that manifest in early postnatal life. The molecular mechanisms that underlie ASDs are not known, but several recent developments suggest that some forms of autism are caused by failures in activity-dependent regulation of neural development. Mutations of several voltage-gated and ligand-gated ion channels that regulate neuronal excitability and Ca2+ signaling have been associated with ASDs. In addition, Ca2+-regulated signaling proteins involved in synapse formation and dendritic growth have been implicated in ASDs. These recent advances suggest a set of signaling pathways that might have a role in generating these increasingly prevalent disorders.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Several lines of evidence, including rare mutations affecting calcium conductance in humans, indicate excessive Ca2+ signalling plays a pivotal role in the pathophysiology of autism.
“Several lines of evidence, including rare mutations affecting calcium (Ca2+) conductance in humans, indicate that excessive Ca2+ signalling plays a pivotal role in the pathophysiology of autism [243].”
From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [243]
Timothy Syndrome-causing point mutations in CACNA1C disrupt development of neuronal dendrites, bone, and skin, and also affect ongoing electrical function in heart and brain.
“For example, point mutations in CACNA1C that underlie Timothy Syndrome perturb the development of neuronal dendrites (Krey and Dolmetsch, 2007), bones (Ramachandran et al., 2013), and skin (Yucel et al., 2013), as well as ongoing electrophysiological function of heart and brain (Krey and Dolmetsch, 2007; Splawski et al., 2005; Splawski et al., 2004).”
From Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops (2016) · cites this paper as Krey and Dolmetsch, 2007
Cites
TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling
Inoki, K., Li, Y., Zhu, T., Wu, J., & Guan, K.-L. (2002) · Nature Cell Biology · doi:10.1038/ncb839 · Cited by 3,083 · see citing works
Model of autism: increased ratio of excitation/inhibition in key neural systems
Rubenstein, J. L. R., & Merzenich, M. M. (2003) · Genes, Brain and Behavior · doi:10.1034/j.1601-183x.2003.00037.x · Cited by 2,768 · see citing works
Catterall, W. A., Goldin, A. L., & Waxman, S. G. (2005) · Pharmacological Reviews · doi:10.1124/pr.57.4.4 · Cited by 2,259 · see citing works
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1136 · Cited by 1,851 · see citing works
Molecular Physiology of Low-Voltage-Activated T-type Calcium Channels
Perez‐Reyes, E. (2003) · Physiological Reviews · doi:10.1152/physrev.00018.2002 · Cited by 1,655 · see citing works
CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism
Splawski, I., Timothy, K. W., Sharpe, L. M., Decher, N., Kumar, P., Bloise, R., Napolitano, C., Schwartz, P. J., Joseph, R. M., Condouris, K., et al. (2004) · Cell · doi:10.1016/j.cell.2004.09.011 · Cited by 1,586 · see citing works
Manning, B. D., Tee, A. R., Logsdon, M. N., Blenis, J., & Cantley, L. C. (2002) · Molecular Cell · doi:10.1016/s1097-2765(02)00568-3 · Cited by 1,555 · see citing works
Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2
Chen, W. G., Chang, Q., Lin, Y., Meissner, A., West, A. E., Griffith, E. C., Jaenisch, R., & Greenberg, M. E. (2003) · Science · doi:10.1126/science.1086446 · Cited by 1,232 · see citing works
Muhle, R., Trentacoste, S. V., & Rapin, I. (2004) · Pediatrics · doi:10.1542/peds.113.5.e472 · Cited by 1,207 · see citing works
Catterall, W. A., Perez‐Reyes, E., Snutch, T. P., & Striessnig, J. (2005) · Pharmacological Reviews · doi:10.1124/pr.57.4.5 · Cited by 1,165 · see citing works
Calcium regulation of neuronal gene expression
West, A. E., Chen, W. G., Dalva, M., Dolmetsch, R., Kornhauser, J., Shaywitz, A. J., Takasu, M., Tao, X., & Greenberg, M. (2001) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.191352298 · Cited by 1,115 · see citing works
Self-citationA long, remarkable journey: Tangential migration in the telencephalon
Marín, Ó., & Rubenstein, J. L. R. (2001) · Nature reviews. Neuroscience · doi:10.1038/35097509 · Cited by 1,050 · see citing works
Pten Regulates Neuronal Arborization and Social Interaction in Mice
Kwon, C.-H., Luikart, B. W., Powell, C. M., Zhou, J., Matheny, S. A., Zhang, W., Li, Y., Baker, S. J., & Parada, L. F. (2006) · Neuron · doi:10.1016/j.neuron.2006.03.023 · Cited by 970 · see citing works
Akt regulates growth by directly phosphorylating Tsc2
Potter, C. J., Pedraza, L. G., & Xu, T. (2002) · Nature Cell Biology · doi:10.1038/ncb840 · Cited by 959 · see citing works
Behavioral Alterations in Rats Prenatally Exposed to Valproic Acid: Animal Model of Autism
Schneider, T., & Przewłocki, R. (2005) · Neuropsychopharmacology · doi:10.1038/sj.npp.1300518 · Cited by 959 · see citing works
Dolmetsch, R. E., Pajvani, U., Fife, K., Spotts, J. M., & Greenberg, M. E. (2001) · Science · doi:10.1126/science.1063395 · Cited by 900 · see citing works
Self-citationZhou, Z., Hong, E. J., Cohen, S., Zhao, W.-N., Ho, H.-Y. H., Schmidt, L., Chen, W. G., Lin, Y., Savner, E., Griffith, E. C., et al. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.037 · Cited by 877 · see citing works
Butler, M. G., Dasouki, M. J., Zhou, X.-P., Talebizadeh, Z., Brown, M., Takahashi, T. N., Miles, J. H., Wang, C. H., Stratton, R., Pilarski, R., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.024646 · Cited by 778 · see citing works
Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.-P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/382137 · Cited by 768 · see citing works
Control of Excitatory and Inhibitory Synapse Formation by Neuroligins
Chih, B., Engelman, H. S., & Scheiffele, P. (2005) · Science · doi:10.1126/science.1107470 · Cited by 707 · see citing works
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations
Splawski, I., Timothy, K. W., Decher, N., Kumar, P., Sachse, F. B., Beggs, A. H., Sanguinetti, M. C., & Keating, M. T. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0502506102 · Cited by 624 · see citing works
Fombonne, E. (2003) · JAMA · doi:10.1001/jama.289.1.87 · Cited by 604 · see citing works
Developmental roles of HGF/SF and its receptor, the c-Met tyrosine kinase
Birchmeier, C., & Gherardi, E. (1998) · Trends in Cell Biology · doi:10.1016/s0962-8924(98)01359-2 · Cited by 599 · see citing works
Jaworski, J., Spangler, S. A., Seeburg, D. P., Hoogenraad, C. C., & Sheng, M. (2005) · Journal of Neuroscience · doi:10.1523/jneurosci.2270-05.2005 · Cited by 576 · see citing works
Searching for ways out of the autism maze: genetic, epigenetic and environmental clues
Persico, A. M., & Bourgeron, T. (2006) · Trends in Neurosciences · doi:10.1016/j.tins.2006.05.010 · Cited by 575 · see citing works
Dendritic arbor development and synaptogenesis
Cline, H. T. (2001) · Current Opinion in Neurobiology · doi:10.1016/s0959-4388(00)00182-3 · Cited by 499 · see citing works
Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2
Tavazoie, S. F., Alvarez, V. A., Ridenour, D. A., Kwiatkowski, D. J., & Sabatini, B. L. (2005) · Nature Neuroscience · doi:10.1038/nn1566 · Cited by 497 · see citing works
Large-scale oscillatory calcium waves in the immature cortex
Garaschuk, O., Linn, J., Eilers, J., & Konnerth, A. (2000) · Nature Neuroscience · doi:10.1038/74823 · Cited by 493 · see citing works
Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1
Lijam, N., Paylor, R., McDonald, M. P., Crawley, J. N., Deng, C.-X., Herrup, K., Stevens, K. E., Maccaferri, G., McBain, C. J., Sussman, D. J., et al. (1997) · Cell · doi:10.1016/s0092-8674(00)80354-2 · Cited by 470 · see citing works
Wayman, G. A., Impey, S., Marks, D., Saneyoshi, T., Grant, W. F., Derkach, V., & Soderling, T. R. (2006) · Neuron · doi:10.1016/j.neuron.2006.05.008 · Cited by 466 · see citing works
Trophic actions of GABA on neuronal development
Represa, A., & Ben‐Ari, Y. (2005) · Trends in Neurosciences · doi:10.1016/j.tins.2005.03.010 · Cited by 456 · see citing works
AUTISM IN THALIDOMIDE EMBRYOPATHY: A POPULATION STUDY
Strömland, K., Nordin, V., Miller, M. T., Åkerström, B., & Gillberg, C. (1994) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1994.tb11856.x · Cited by 453 · see citing works
Kishi, N., & Macklis, J. D. (2004) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2004.07.006 · Cited by 445 · see citing works
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Strømme, P., Mangelsdorf, M., Shaw, M. A., Lower, K. M., Lewis, M. E. S., Bruyèrè, H., Lütcherath, V., Gedeon, Á. K., Wallace, R. H., Scheffer, I. E., et al. (2002) · Nature Genetics · doi:10.1038/ng862 · Cited by 440 · see citing works
The developmental neurobiology of autism spectrum disorder
DiCicco-Bloom, E., Lord, C., Zwaigenbaum, L., Courchesne, E., Dager, S. R., Schmitz, C., Schultz, R. T., Crawley, J., & Young, L. J. (2006) · The Journal of Neuroscience · doi:10.1523/jneurosci.1712-06.2006 · Cited by 434 · see citing works
A genetic variant that disrupts <i>MET</i> transcription is associated with autism
Campbell, D. B., Sutcliffe, J. S., Ebert, P. J., Militerni, R., Bravaccio, C., Trillo, S., Elia, M., Schneider, C., Melmed, R., Sacco, R., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0605296103 · Cited by 401 · see citing works
Moody, W. J., & Bosma, M. M. (2005) · Physiological Reviews · doi:10.1152/physrev.00017.2004 · Cited by 394 · see citing works
Ingram, J. L., Peckham, S. M., Tisdale, B., & Rodier, P. M. (2000) · Neurotoxicology and Teratology · doi:10.1016/s0892-0362(99)00083-5 · Cited by 381 · see citing works
Association Between Thimerosal-Containing Vaccine and Autism
Hviid, A. P. (2003) · JAMA · doi:10.1001/jama.290.13.1763 · Cited by 372 · see citing works
Arndt, T. L., Stodgell, C., & Rodier, P. M. (2005) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2004.11.001 · Cited by 369 · see citing works
Ma, D. Q., Whitehead, P. L., Menold, M. M., Martin, E. R., Ashley‐Koch, A. E., Mei, H., Ritchie, M. D., DeLong, G. R., Abramson, R. K., Wright, H. H., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/433195 · Cited by 355 · see citing works
Fetal Valproate Syndrome: Clinical and Neuro‐developmental Features in Two Sibling Pairs
Christianson, A. L., Chester, N., & Kromberg, J. G. R. (1994) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1994.tb11858.x · Cited by 340 · see citing works
Hu, H., Shao, L.-R., Chavoshy, S., Gu, N., Trieb, M., Behrens, R., Laake, P., Pongs, O., Knaus, H., Ottersen, O. P., et al. (2001) · Journal of Neuroscience · doi:10.1523/jneurosci.21-24-09585.2001 · Cited by 338 · see citing works
Linkage and association of the glutamate receptor 6 gene with autism
Jamain, S., Betancur, C., Quach, H., Philippe, A., Fellous, M., Giros, B., Gillberg, C., Leboyer, M., & Bourgeron, T. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4000979 · Cited by 332 · see citing works
Powell, E. M., Mars, W. M., & Levitt, P. (2001) · Neuron · doi:10.1016/s0896-6273(01)00264-1 · Cited by 321 · see citing works
Sodium channels SCN1A, SCN2A and SCN3A in familial autism
Weiss, L. A., Escayg, A., Kearney, J. A., Trudeau, M., MacDonald, B. T., Mori, M., Reichert, J. G., Buxbaum, J. D., & Meisler, M. H. (2003) · Molecular Psychiatry · doi:10.1038/sj.mp.4001241 · Cited by 294 · see citing works
Hussman, J. P. (2001) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1010715619091 · Cited by 263 · see citing works
CACNA1H mutations in autism spectrum disorders
Splawski, I., Yoo, D. S., Stotz, S. C., Cherry, A., Clapham, D. E., & Keating, M. T. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m603316200 · Cited by 255 · see citing works
Disorder-associated mutations lead to functional inactivation of neuroligins
Chih, B., Afridi, S. K., Clark, L., & Scheiffele, P. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh158 · Cited by 242 · see citing works
Fukuda, T., Itoh, M., Ichikawa, T., Washiyama, K., & Goto, Y.-I. (2005) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/64.6.537 · Cited by 221 · see citing works
PTEN mutation in a family with Cowden syndrome and autism
Goffin, A., Hoefsloot, L. H., Bosgoed, E., Swillen, A., & Fryns, J. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1477 · Cited by 215 · see citing works
Evidence supporting WNT2 as an autism susceptibility gene
Wassink, T. H., Piven, J., Vieland, V. J., Huang, J., Swiderski, R. E., Pietila, J., Braun, T. A., Beck, G. E., Folstein, S. E., Haines, J. L., et al. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1401 · Cited by 206 · see citing works
Narita, N., Kato, M., Tazoe, M., Miyazaki, K., Narita, M., & Okado, N. (2002) · Pediatric Research · doi:10.1203/00006450-200210000-00018 · Cited by 205 · see citing works
The neuroligin and neurexin families: from structure to function at the synapse
Lisé, M.-F., & El-Husseini, A. (2006) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-006-6061-3 · Cited by 204 · see citing works
Recent Advances in the Genetics of Autism
Gupta, A. R., & State, M. W. (2006) · Biological Psychiatry · doi:10.1016/j.biopsych.2006.06.020 · Cited by 203 · see citing works
Ca2 channel‐regulated neuronal gene expression
Finkbeiner, S. M., & Greenberg, M. E. (1998) · Journal of Neurobiology · doi:10.1002/(sici)1097-4695(199810)37:1 · Cited by 202 · see citing works
COURCHESNE, E., REDCAY, E., MORGAN, J. T., & KENNEDY, D. P. (2005) · Development and Psychopathology · doi:10.1017/s0954579405050285 · Cited by 192 · see citing works
Barnby, G., Abbott, A., Sykes, N., Morris, A. P., Weeks, D. E., Mott, R., Lamb, J. A., Bailey, A. J., & Monaco, A. P. (2005) · The American Journal of Human Genetics · doi:10.1086/430454 · Cited by 180 · see citing works
Laumonnier, F., Roger, S., Guérin, P., Molinari, F., Mrad, R., Cahard, D., Belhadj, A., Halayem, M. B., Persico, A. M., Elia, M., et al. (2006) · American Journal of Psychiatry · doi:10.1176/ajp.2006.163.9.1622 · Cited by 180 · see citing works
Association Analysis of Chromosome 15 GABAAReceptor Subunit Genes in Autistic Disorder
Menold, M. M., Shao, Y., Wolpert, C. M., Donnelly, S. L., Raiford, K. L., Martin, E. R., Ravan, S. A., Abramson, R. K., Wright, H. H., DeLong, G. R., et al. (2001) · Journal of Neurogenetics · doi:10.3109/01677060109167380 · Cited by 175 · see citing works
Calmodulin Mediates Ca2+ Sensitivity of Sodium Channels
Kim, J., Ghosh, S., Liu, H., Tateyama, M., Kass, R. S., & Pitt, G. S. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m407286200 · Cited by 173 · see citing works
Dijkhuizen, P., & Ghosh, A. (2005) · Journal of Neurobiology · doi:10.1002/neu.20100 · Cited by 171 · see citing works
Investigation of autism and GABA receptor subunit genes in multiple ethnic groups
Collins, A. L., Ma, D., Whitehead, P. L., Martin, E. R., Wright, H. H., Abramson, R. K., Hussman, J. P., Haines, J. L., Cuccaro, M. L., Gilbert, J. R., et al. (2006) · Neurogenetics · doi:10.1007/s10048-006-0045-1 · Cited by 163 · see citing works
GABA is the principal fast-acting excitatory transmitter in the neonatal brain.
Leinekugel, X., Khalilov, I., McLean, H., Caillard, O., Gaïarsa, J., Ben‐Ari, Y., & Khazipov, R. (1999) · PubMed · Cited by 160 · see citing works
Linkage Disequilibrium at the Angelman Syndrome Gene UBE3A in Autism Families
Nurmi, E. L., Bradford, Y., Chen, Y.-H., Hall, J. L., Arnone, B., Gardiner, M., Hutcheson, H. B., Gilbert, J. R., Pericak‐Vance, M. A., Copeland‐Yates, S. A., et al. (2001) · Genomics · doi:10.1006/geno.2001.6617 · Cited by 159 · see citing works
Orchestrating neuronal differentiation: patterns of Ca2+ spikes specify transmitter choice.
Spitzer, N., Root, C. M., & Borodinsky, L. N. (2004) · Trends in Neurosciences · doi:10.1016/j.tins.2004.05.003 · Cited by 132 · see citing works
Hemara‐Wahanui, A., Berjukow, S., Hope, C., Dearden, P. K., Wu, S., Wilson-Wheeler, J. C., Sharp, D. M., Lundon-Treweek, P., Clover, G. M., Hoda, J., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0501907102 · Cited by 132 · see citing works
Turner, G., Partington, M., Kerr, B., Mangelsdorf, M., & Gecz, J. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10714 · Cited by 128 · see citing works
Nelson, K. B., & Bauman, M. L. (2003) · PEDIATRICS · doi:10.1542/peds.111.3.674 · Cited by 127 · see citing works
The role of neural activity in synaptic development and its implications for adult brain function.
Aamodt, S. M., & Constantine‐Paton, M. (1999) · PubMed · Cited by 123 · see citing works
The role of ARX in cortical development
Friocourt, G., Poirier, K., Rakić, S., Parnavelas, J. G., & Chelly, J. (2006) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.2006.04629.x · Cited by 119 · see citing works
Voigt, T., Opitz, T., & de Lima, A. D. (2001) · Journal of Neuroscience · doi:10.1523/jneurosci.21-22-08895.2001 · Cited by 115 · see citing works
Autism and 15q11‐q13 disorders: Behavioral, genetic, and pathophysiological issues
Dykens, E. M., Sutcliffe, J. S., & Levitt, P. R. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20042 · Cited by 108 · see citing works
Serajee, F., Zhong, H., Nabi, R., & Huq, A. H. M. M. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.4.e42 · Cited by 108 · see citing works
Thimerosal A versatile sulfhydryl reagent, calcium mobilizer, and cell function-modulating agent
Elferink, J. G. R. (1999) · General Pharmacology The Vascular System · doi:10.1016/s0306-3623(98)00258-4 · Cited by 91 · see citing works
Limke, T. L., Heidemann, S. R., & Atchison, W. D. (2004) · NeuroToxicology · doi:10.1016/j.neuro.2003.12.005 · Cited by 88 · see citing works
Angelman Syndrome Reviewed from a Neurophysiological Perspective. The UBE3A-GABRB3 Hypothesis
Dan, B., & Boyd, S. (2003) · Neuropediatrics · doi:10.1055/s-2003-42213 · Cited by 83 · see citing works
Hope, C., Sharp, D. M., Hemara‐Wahanui, A., Sissingh, J. I., Lundon-Treweek, P., Mitchell, E. A., Maw, M. A., & Clover, G. M. (2005) · Clinical and Experimental Ophthalmology · doi:10.1111/j.1442-9071.2005.00987.x · Cited by 80 · see citing works
Analysis of four DLX homeobox genes in autistic probands
Hamilton, S. P., Woo, J. M., Carlson, E. J., Ghanem, N., Ekker, M., & Rubenstein, J. L. R. (2005) · BMC Genetics · doi:10.1186/1471-2156-6-52 · Cited by 71 · see citing works
Tsigelny, I. F., Taylor, P., Bourne, P. E., Shindyalov, I. N., & Südhof, T. C. (2000) · Protein Science · doi:10.1110/ps.9.1.180 · Cited by 64 · see citing works
GABRB3 Gene Deficient Mice: A Potential Model of Autism Spectrum Disorder
DeLorey, T. M. (2005) · International review of neurobiology · doi:10.1016/s0074-7742(05)71015-1 · Cited by 42 · see citing works
Laumonnier, F. (2006) · American Journal of Psychiatry · doi:10.1176/appi.ajp.163.9.1622 · Cited by 42 · see citing works
A Carboxyl-terminal Hydrophobic Interface Is Critical to Sodium Channel Function
Glaaser, I. W., Bankston, J. R., Liu, H., Tateyama, M., & Kass, R. S. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m605473200 · Cited by 37 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Advances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866 · see citing works
Consensus Paper: Pathological Role of the Cerebellum in Autism
Fatemi, S. H., Aldinger, K. A., Ashwood, P., Bauman, M. L., Blaha, C. D., Blatt, G. J., Chauhan, A., Chauhan, V., Dager, S. R., Dickson, P. E., et al. (2012) · The Cerebellum · doi:10.1007/s12311-012-0355-9 · Cited by 723 · see citing works
Recurrent 16p11.2 microdeletions in autism
Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., Gilliam, T. C., Nowak, N. J., Cook, E. H., Dobyns, W. B., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm376 · Cited by 731 · see citing works
Filice, F., Vörckel, K. J., Sungur, A. Ö., Wöhr, M., & Schwaller, B. (2016) · Molecular Brain · doi:10.1186/s13041-016-0192-8 · Cited by 240 · see citing works
Wöhr, M., Orduz, D., Gregory, P., Moreno, H., Khan, U., Vörckel, K. J., Wolfer, D. P., Welzl, H., Gall, D., Schiffmann, S. N., et al. (2015) · Translational Psychiatry · doi:10.1038/tp.2015.19 · Cited by 258 · see citing works
Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons
Griesi-Oliveira, K., Acab, A., Gupta, A. R., Sunaga, D. Y., Chailangkarn, T., Nicol, X., Nunez, Y., Walker, M. F., Murdoch, J. D., Sanders, S. J., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.141 · Cited by 236 · see citing works
Genotype to phenotype relationships in autism spectrum disorders
Chang, J., Gilman, S. R., Chiang, A. H., Sanders, S. J., & Vitkup, D. (2015) · Nature Neuroscience · doi:10.1038/nn.3907 · Cited by 197 · see citing works
Mutations in the calcium-related gene IL1RAPL1 are associated with autism
Piton, A., Michaud, J. L., Peng, H., Aradhya, S., Gauthier, J., Mottron, L., Champagne, N., Lafreniere, R. G., Hamdan, F. F., S2D team, et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn300 · Cited by 195 · see citing works
Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops
Mullins, C., Fishell, G., & Tsien, R. W. (2016) · Neuron · doi:10.1016/j.neuron.2016.02.017 · Cited by 167 · see citing works
Mitochondrial dysfunction in autism spectrum disorders: Cause or effect?
Palmieri, L., & Persico, A. M. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2010.04.018 · Cited by 173 · see citing works
Yang, D., Kim, K. H., Phimister, A., Bachstetter, A. D., Ward, T. R., Stackman, R. W., Mervis, R. F., Wisniewski, A. B., Klein, S. L., Kodavanti, P. R. S., et al. (2009) · Environmental Health Perspectives · doi:10.1289/ehp.11771 · Cited by 166 · see citing works
Ghezzo, A., Visconti, P., Abruzzo, P. M., Bolotta, A., Ferreri, C., Gobbi, G., Malisardi, G., Manfredini, S., Marini, M., Nanetti, L., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0066418 · Cited by 164 · see citing works
Stamou, M., Streifel, K. M., Goines, P. E., & Lein, P. J. (2013) · Neurotoxicology and Teratology · doi:10.1016/j.ntt.2012.12.001 · Cited by 128 · see citing works
A review of recent reports on autism: 1000 studies published in 2007
Hughes, J. R. (2008) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2008.06.015 · Cited by 76 · see citing works
Converging Evidence for an Association of ATP2B2 Allelic Variants with Autism in Male Subjects
Carayol, J., Sacco, R., Tores, F., Rousseau, F., Lewin, P., Hager, J., & Persico, A. M. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.05.020 · Cited by 59 · see citing works
Immunologic and neurodevelopmental susceptibilities of autism
Pessah, I. N., Seegal, R. F., Lein, P. J., LaSalle, J., Yee, B. K., Van De Water, J., & Berman, R. F. (2008) · NeuroToxicology · doi:10.1016/j.neuro.2008.02.006 · Cited by 51 · see citing works
Allowing for sex differences increases power in a GWAS of multiplex Autism families
Lu, A. T.-H., & Cantor, R. M. (2012) · Molecular Psychiatry · doi:10.1038/mp.2010.127 · Cited by 51 · see citing works
Salmina, A. B., Lopatina, O., Ekimova, M. V., Mikhutkina, S. V., & Higashida, H. (2010) · Journal of Neuroendocrinology · doi:10.1111/j.1365-2826.2010.01970.x · Cited by 36 · see citing works
- Authors
- Krey, J. F., & Dolmetsch, R. E.
- Affiliations
- Stanford Medicine (US)
- Corresponding author
- Dolmetsch, Ricardo E
- Venue
- Current Opinion in Neurobiology
- Publisher
- Elsevier BV
- Published
- 2007-02
- Volume
- 17
- Issue
- 1
- Pages
- 112-119
- ISSN
- 0959-4388 (ISSN-L)
- OpenAlex
- W2075296758
- Cited by
- 169
- References
- 83
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 4 · 2023: 5 · 2022: 3 · 2021: 8 · 2020: 12 · 2019: 7 · 2018: 9 · 2017: 8 · 2016: 11 · 2015: 13 · 2014: 6 · 2013: 14 · 2012: 13
- FWCI
- 0.96
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Current Opinion in Neurobiology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- McKnight Foundation
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke (R01NS048564)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- autism spectrum disorder, calcium signaling, ion channels, voltage-gated ion channels, ligand-gated ion channels, neuronal excitability, synaptogenesis, dendritic growth, neural development, activity-dependent regulation
- MeSH terms
- Autistic Disorder, Brain, Cell Differentiation, Environment, Humans, Ion Channels, Synaptic Transmission, Synapses, Receptors, Neurotransmitter, Calcium Signaling
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review