An hPer2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome

By K. L. Toh, Christopher R. Jones, Yan He, E. Eide, William A Hinz, D. Virshup, L. Ptáček, Ying-Hui Fu. Science, 2001

1,482 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Endocrine and Autonomic Systems

View Paper: https://www.semanticscholar.org/paper/db31a66aa265600947167e9fff23d3b20dc4f16d

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In Cellular and Molecular Neuroscience

In Endocrine and Autonomic Systems

Citations in the corpus

Pathophysiology of Migraine: A Disorder of Sensory Processing. (2017, background): “This genetic alteration and its functional consequences lead in humans, and transgenic mice with the human mutation inserted, to the clinical phenotype of the Familial Advanced Sleep Phase Syndrome (FASPS), which is characterized by an abnormal sleep pattern consisting of early sleep times and early”
Physiology of circadian entrainment. (2010, background): “syndrome (472, 473, 515); other mutations have recently”
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).”
A marker for the end of adolescence. (2004, background): “The chronotype depends on genetic [4,5] and environmental factors [3] but also on age [3,6–9].”
Posttranslational mechanisms regulate the mammalian circadian clock. (2001, neutral): “The phosphorylated by CKI in vitro (Toh et al., 2001).”
The Genetics of Mammalian Circadian Order and Disorder: Implications for Physiology and Disease (2008, background): “Using linkage analysis, Toh and colleagues found that the missense mutation S662G in human PER2 cosegregated with FASP”
Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome (2005, methodology): “Blood sample collection and DNA preparation were performed as previously describe”
Differential functions of mPer1, mPer2, and mPer3 in the SCN circadian clock. (2001, background): “…with familial advanced sleep back loop in which the expression of putative “clock phase syndrome, an abnormality in the circadian timing genes” is suppressed periodically by their protein prod- system affecting the timing of sleep (Toh et al., 2001). ucts (Dunlap,1999; Reppert and Weaver, 2001).”
Circadian Typology: A Comprehensive Review (2012, background): “In addition, familial mutations in PER2 (Toh et al., 2001) and CKI (Xu et al.”
Molecular components of the Mammalian circadian clock. (2013, 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).”