Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome

By Ying Xu, Q. Padiath, R. Shapiro, Christopher R. Jones, Susan C. Wu, Noriko Saigoh, K. Saigoh, L. Ptáček, Ying-Hui Fu. Nature, 2005

833 citations recorded by the source corpus.

Subfields: Cognitive Neuroscience, Endocrine and Autonomic Systems, Physiology

View Paper: https://www.semanticscholar.org/paper/d2e260e0577a04c9b53e0df28f35e4562738ccfa

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cognitive Neuroscience

1. Ana Adan
2. M. Hidalgo
3. S. Archer
4. L. Di Milia
5. Vincenzo Natale
6. P. Goadsby
7. J. Takahashi
8. E. Arrigoni

In Endocrine and Autonomic Systems

1. C. Green
2. Christoph Randler
3. C. H. Ko
4. J. Lipton
5. T. Scammell
6. E. Arrigoni
7. J. Takahashi
8. C. Partch

In Physiology

1. C. Green
2. P. Goadsby
3. C. H. Ko
4. J. Takahashi
5. J. Lipton
6. Colleen A. Mcclung

Citations in the corpus

• Pathophysiology of Migraine: A Disorder of Sensory Processing. (2017, background): “A missense mutation in the gene encoding casein kinase 1 (CK1 ) has been linked to migraine (119, 863).”
• Neural Circuitry of Wakefulness and Sleep (2017, positive): “For example, in advanced sleep phase syndrome, the sleep period begins much earlier than usual, and some of these individuals have mutations in Per2 or casein kinase 1, one of PER2’s phosphorylating kinases (Toh et al., 2001; Xu et al., 2005).”
• Physiology of circadian entrainment. (2010, background): “syndrome (472, 473, 515); other mutations have recently”
• Sleep Disorders and Sleep Deprivation: An Unmet Public Health Problem (2006, background): “A recent study has also identified a candidate gene, human PER2, that results in familial advanced sleep phase syndrome (Xu et al., 2005).”
• Circadian genes, rhythms and the biology of mood disorders. (2007, background): “Furthermore, genetic sleep disorders such as familial advanced phase sleep syndrome (FASPS) in which individuals have shifted circadian rhythms where they fall asleep and wake up much earlier than desired, or delayed sleep phase syndrome (DSPS) which has the opposite phenotype, are both highly co-mo”
• Circadian Typology: A Comprehensive Review (2012, background): “, 2001) and CKI (Xu et al., 2005) have been linked with advanced sleep phase disorder (ASPD) where it has been shown that greatly advanced circadian rhythms and sleep timing are due to changes in phosphorylation of PER protein.”
• Molecular components of the mammalian circadian clock. (2006, background): “In familial ASPS (FASPS), the disorder cosegregates both with a mutation in the core circadian clock gene PER2 and independently with a mutation in the PER2-phosphorylating kinase, CK1 δ (Toh et al. 2001; Xu et al. 2005).”
• Molecular Architecture of the Mammalian Circadian Clock (2013, background): “Notably, familial mutations resulting in the loss of a single phospho-acceptor site on PER2 (S662G) [113] or a loss-of-function mutation in CKIδ (T44A) [114] shorten the intrinsic period of the clock in mice and give rise to sleep phase disorders in humans.”