Newby, A. C. Adenosine and the concept of “retaliatory metabolites”. Trends Biochem. Sci. 9, 42–44 (1984).
Fredholm, B. B., Johansson, S. & Wang, Y. Q. Adenosine and the regulation of metabolism and body temperature. Adv. Pharmacol. 61, 77–94. https://doi.org/10.1016/B978-0-12-385526-8.00003-5 (2011).
Boison, D. & Yegutkin, G. G. Adenosine metabolism: Emerging concepts for cancer therapy. Cancer Cell 36, 582–596 (2019).
Park, J. & Gupta, R. S. In Adenosine: A Key Link Between Metabolism and Central Nervous System Activity (eds Boison, D. & Masino, M. A.) 23–54 (Springer, 2013).
Boison, D. Adenosine dysfunction in epilepsy. Glia 60, 1234–1243 (2012).
Garcia-Gil, M., Camici, M., Allegrini, S., Pesi, R. & Tozzi, M. G. Metabolic aspects of adenosine functions in the brain. Front. Pharmacol. https://doi.org/10.3389/fphar.2021.672182 (2021).
Boison, D. Adenosine kinase: exploitation for therapeutic gain. Pharmacol. Rev. 65, 906–943 (2013).
Cui, X. A., Singh, B., Park, J. & Gupta, R. S. Subcellular localization of adenosine kinase in mammalian cells: The long isoform of AdK is localized in the nucleus. Biochem. Biophys. Res. Commun. 388, 46–50 (2009).
Boison, D. & Rho, J. M. Epigenetics and epilepsy prevention: The therapeutic potential of adenosine and metabolic therapies. Neuropharmacology 167, 107741. https://doi.org/10.1016/j.neuropharm.2019.107741 (2020).
Sandau, U. S. et al. Adenosine kinase deficiency in the brain results in maladaptive synaptic plasticity. J. Neurosci. 30, 187–192 (2016).
Williams-Karnesky, R. L. et al. Epigenetic changes induced by adenosine augmentation therapy prevent epileptogenesis. J. Clin. Investig. 123, 3552–3563 (2013).
Wang, Y. et al. Adenosine kinase is critical for neointima formation after vascular injury by inducing aberrant DNA hypermethylation. Cardiovasc. Res. 117, 561–575. https://doi.org/10.1093/cvr/cvaa040 (2021).
Xu, Y. et al. Regulation of endothelial intracellular adenosine via adenosine kinase epigenetically modulates vascular inflammation. Nat. Commun. 8, 943. https://doi.org/10.1038/s41467-017-00986-7 (2017).
Boison, D. Adenosine kinase: Exploitation for therapeutic gain. Pharmacol. Rev. 65, 906–943. https://doi.org/10.1124/pr.112.006361 (2013).
Gouder, N., Scheurer, L., Fritschy, J.-M. & Boison, D. Overexpression of adenosine kinase in epileptic hippocampus contributes to epileptogenesis. J. Neurosci. 24, 692–701 (2004).
Studer, F. E. et al. Shift of adenosine kinase expression from neurons to astrocytes during postnatal development suggests dual functionality of the enzyme. Neuroscience 142, 125–137. https://doi.org/10.1016/j.neuroscience.2006.06.016 (2006).
Gebril, H. et al. Developmental role of adenosine kinase in the cerebellum. eNeuro https://doi.org/10.1523/ENEURO.0011-21.2021 (2021).
Kiese, K., Jablonski, J., Boison, D. & Kobow, K. Dynamic regulation of the adenosine kinase gene during early postnatal brain development and maturation. Front. Mol. Neurosci. 9, 99 (2016).
Stiles, J. & Jernigan, T. L. The basics of brain development. Neuropsychol. Rev. 20, 327–348. https://doi.org/10.1007/s11065-010-9148-4 (2010).
Sudarov, A. & Joyner, A. L. Cerebellum morphogenesis: The foliation pattern is orchestrated by multi-cellular anchoring centers. Neural Dev. 2, 26. https://doi.org/10.1186/1749-8104-2-26 (2007).
Lancaster, M. A. et al. Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nat. Med. 17, 726–731. https://doi.org/10.1038/nm.2380 (2011).
Maresˇ, V. & Lodin, Z. The cellular kinetics of the developing mouse cerebellum. II. The function of the external granular layer in the process of gyrification. Brain Res. 23, 343–352. https://doi.org/10.1016/0006-8993(70)90061-2 (1970).
Corrales, J. D., Blaess, S., Mahoney, E. M. & Joyner, A. L. The level of sonic hedgehog signaling regulates the complexity of cerebellar foliation. Development (Cambridge, England) 133, 1811–1821. https://doi.org/10.1242/dev.02351 (2006).
Gebril, H. M. et al. Adenosine kinase inhibition promotes proliferation of neural stem cells after traumatic brain injury. Brain Commun. 2, fcaa017. https://doi.org/10.1093/braincomms/fcaa017 (2020).
Najmabadi, H. et al. Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum. Genet. 121, 43–48. https://doi.org/10.1007/s00439-006-0292-0 (2007).
Bjursell, M. K. et al. Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am. J. Hum. Genet. 89, 507–515. https://doi.org/10.1016/j.ajhg.2011.09.004 (2011).
Becker, P.-H. et al. Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia. Mol. Genet. Metab. 132, 38–43. https://doi.org/10.1016/j.ymgme.2020.11.007 (2021).
Fedele, D. E. et al. Astrogliosis in epilepsy leads to overexpression of adenosine kinase resulting in seizure aggravation. Brain 128, 2383–2395 (2005).
El-Andari, R., Cunha, F., Tschirren, B. & Iwaniuk, A. N. Selection for divergent reproductive investment affects neuron size and foliation in the cerebellum. Brain Behav. Evol. 95, 69–77. https://doi.org/10.1159/000509068 (2020).
Pillay, P. & Manger, P. R. Order-specific quantitative patterns of cortical gyrification. Eur. J. Neurosci. 25, 2705–2712. https://doi.org/10.1111/j.1460-9568.2007.05524.x (2007).
Wahlsten, D. & Andison, M. Patterns of cerebellar foliation in recombinant inbred mice. Brain Res. 557, 184–189. https://doi.org/10.1016/0006-8993(91)90133-G (1991).
Hou, C. et al. Abnormal cerebellar development and Purkinje cell defects in Lgl1-Pax2 conditional knockout mice. Dev. Biol. 395, 167–181. https://doi.org/10.1016/j.ydbio.2014.07.007 (2014).
Chang, J. C. et al. Mitotic events in cerebellar granule progenitor cells that expand cerebellar surface area are critical for normal cerebellar cortical lamination in mice. J. Neuropathol. Exp. Neurol. 74, 261–272. https://doi.org/10.1097/nen.0000000000000171 (2015).
Butts, T., Green, M. J. & Wingate, R. J. T. Development of the cerebellum: Simple steps to make a ‘little brain’. Development (Cambridge, England) 141, 4031–4041. https://doi.org/10.1242/dev.106559 (2014).
Falluel-Morel, A., Tascau, L. I., Sokolowski, K., Brabet, P. & DiCicco-Bloom, E. Granule cell survival is deficient in PAC1−/− mutant cerebellum. J. Mol. Neurosci. 36, 38–44. https://doi.org/10.1007/s12031-008-9066-6 (2008).
Luan, G. et al. Overexpression of adenosine kinase in patients with epilepsy associated with Sturge-Weber syndrome. Neuropsychiatry 7, 640–647. https://doi.org/10.4172/Neuropsychiatry.1000364 (2017).
Boison, D. et al. Neonatal hepatic steatosis by disruption of the adenosine kinase gene. Proc. Natl. Acad. Sci. USA 99, 6985–6990. https://doi.org/10.1073/pnas.092642899 (2002).
Atterbury, A. & Wall, M. J. Adenosine signalling at immature parallel fibre–Purkinje cell synapses in rat cerebellum. J. Physiol. 587, 4497–4508. https://doi.org/10.1113/jphysiol.2009.176420 (2009).
Beekhof, G. C. et al. Differential spatiotemporal development of Purkinje cell populations and cerebellum-dependent sensorimotor behaviors. Elife https://doi.org/10.7554/eLife.63668 (2021).
Aldinger, K. A. & Doherty, D. The genetics of cerebellar malformations. Semin. Fetal Neonatal Med. 21, 321–332. https://doi.org/10.1016/j.siny.2016.04.008 (2016).
Palchykova, S. et al. Manipulation of adenosine kinase affects sleep regulation in mice. J. Neurosci. 30, 13157–13165. https://doi.org/10.1523/JNEUROSCI.1359-10.2010%JTheJournalofNeuroscience (2010).
Yee, B. K., Singer, P., Chen, J. F., Feldon, J. & Boison, D. Transgenic overexpression of adenosine kinase in brain leads to multiple learning impairments and altered sensitivity to psychomimetic drugs. Eur. J. Neurosci. 26, 3237–3252. https://doi.org/10.1111/j.1460-9568.2007.05897.x (2007).
Li, T., Lan, J.-Q. & Boison, D. Uncoupling of astrogliosis from epileptogenesis in adenosine kinase (ADK) transgenic mice. Neuron Glia Biol. 4, 91–99. https://doi.org/10.1017/S1740925X09990135 (2008).
Aldinger, K. A. et al. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p253 Dandy–Walker malformation. Nat. Genet. 41, 1037–1042. https://doi.org/10.1038/ng.422 (2009).
Kolanczyk, M. et al. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher–Schinzel/3C syndrome. Eur. J. Hum. Genet. 23, 633–638. https://doi.org/10.1038/ejhg.2014.109 (2015).
Hong, S. E. et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat. Genet. 26, 93–96. https://doi.org/10.1038/79246 (2000).
Boycott, K. M. et al. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J. Child Neurol. 24, 1310–1315. https://doi.org/10.1177/0883073809332696 (2009).
Doherty, D., Millen, K. J. & Barkovich, A. J. Midbrain and hindbrain malformations: Advances in clinical diagnosis, imaging, and genetics. Lancet Neurol. 12, 381–393. https://doi.org/10.1016/s1474-4422(13)70024-3 (2013).
Pichiecchio, A. et al. “Acquired” Dandy-Walker malformation and cerebellar hemorrhage: Usefulness of serial MRI. Eur. J. Paediatr. Neurol. 20, 188–191. https://doi.org/10.1016/j.ejpn.2015.09.009 (2016).
Lee, J. H. et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat. Genet. 44, 941–945. https://doi.org/10.1038/ng.2329 (2012).
Annes, J. P. et al. Adenosine kinase inhibition selectively promotes rodent and porcine islet β-cell replication. Proc. Natl. Acad. Sci. 109, 3915–3920. https://doi.org/10.1073/pnas.1201149109 (2012).
Iwasato, T. et al. Dorsal telencephalon-specific expression of Cre recombinase in PAC transgenic mice. Genesis 38, 130–138 (2004).
Crews, F. T., Mdzinarishvili, A., Kim, D., He, J. & Nixon, K. Neurogenesis in adolescent brain is potently inhibited by ethanol. Neuroscience 137, 437–445. https://doi.org/10.1016/j.neuroscience.2005.08.090 (2006).