Ying-Hui Fu, PhD
Professor
Neurology
School of Medicine

For circadian and sleep behaviors, over the last 15 years, she and her colleagues identified several mutations that lead to extreme morning lark phenotype. In addition, they are investigating the genetic basis for human subjects to have shorter sleep duration. Since circadian rhythm and sleep homeostasis are intimately connected with many physiological pathways including metabolism, immune function, and mood regulation, to name but a few, these studies will also shed new light on how sleep schedule and sleep homeostasis can impact on health.

• Microglia are involved in the protection of memories formed during sleep deprivation.
  Neurobiology of sleep and circadian rhythms 2021 Gentry NW, McMahon T, Yamazaki M, Webb J, Arnold TD, Rosi S, Ptácek LJ, Fu YH
• Recent advances in sleep genetics.
  Current opinion in neurobiology 2020 Webb JM, Fu YH
• Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait.
  Current biology : CB 2020 Shi G, Yin C, Fan Z, Xing L, Mostovoy Y, Kwok PY, Ashbrook LH, Krystal AD, Ptácek LJ, Fu YH
• A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.
  Annals of neurology 2020 Fay A, Garcia Y, Margeta M, Maharjan S, Jürgensen C, Briceño J, Garcia M, Yin S, Bassaganyas L, McMahon T, Hou YM, Fu YH, Ptácek LJ
• Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation.
  Science translational medicine 2019 Xing L, Shi G, Mostovoy Y, Gentry NW, Fan Z, McMahon TB, Kwok PY, Jones CR, Ptácek LJ, Fu YH
• A Rare Mutation of β1-Adrenergic Receptor Affects Sleep/Wake Behaviors.
  Neuron 2019 Shi G, Xing L, Wu D, Bhattacharyya BJ, Jones CR, McMahon T, Chong SYC, Chen JA, Coppola G, Geschwind D, Krystal A, Ptácek LJ, Fu YH
• Genetics of the human circadian clock and sleep homeostat.
  Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2019 Ashbrook LH, Krystal AD, Fu YH, Ptácek LJ
• TIMELESS mutation alters phase responsiveness and causes advanced sleep phase.
  Proceedings of the National Academy of Sciences of the United States of America 2019 Kurien P, Hsu PK, Leon J, Wu D, McMahon T, Shi G, Xu Y, Lipzen A, Pennacchio LA, Jones CR, Fu YH, Ptácek LJ
• DEC2 modulates orexin expression and regulates sleep.
  Proceedings of the National Academy of Sciences of the United States of America 2018 Hirano A, Hsu PK, Zhang L, Xing L, McMahon T, Yamazaki M, Ptácek LJ, Fu YH
• Disorders of sleep and circadian rhythms.
  Handbook of clinical neurology 2018 Chong SYC, Xin L, Ptácek LJ, Fu YH
• FAD Regulates CRYPTOCHROME Protein Stability and Circadian Clock in Mice.
  Cell reports 2017 Hirano A, Braas D, Fu YH, Ptácek LJ
• Human genetics and sleep behavior.
  Current opinion in neurobiology 2017 Shi G, Wu D, Ptácek LJ, Fu YH
• The intricate dance of post-translational modifications in the rhythm of life.
  Nature structural & molecular biology 2016 Hirano A, Fu YH, Ptácek LJ
• Sleep and Mood: Chicken or Egg?
  Biological psychiatry 2016 Ptáoek LJ, Fu YH, Krystal AD
• A Cryptochrome 2 mutation yields advanced sleep phase in humans.
  eLife 2016 Hirano A, Shi G, Jones CR, Lipzen A, Pennacchio LA, Xu Y, Hallows WC, McMahon T, Yamazaki M, Ptácek LJ, Fu YH
• A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait.
  Proceedings of the National Academy of Sciences of the United States of America 2016 Zhang L, Hirano A, Hsu PK, Jones CR, Sakai N, Okuro M, McMahon T, Yamazaki M, Xu Y, Saigoh N, Saigoh K, Lin ST, Kaasik K, Nishino S, Ptácek LJ, Fu YH
• Understanding the role of dicer in astrocyte development.
  PloS one 2015 Howng SY, Huang Y, Ptácek L, Fu YH
• Nuclear envelope regulates the circadian clock.
  Nucleus (Austin, Tex.) 2015 Zhang L, Ptáck LJ, Fu YH
• Genetics of human sleep behavioral phenotypes.
  Methods in enzymology 2014 Hsu PK, Ptácek LJ, Fu YH
• Nuclear envelope protein MAN1 regulates clock through BMAL1.
  eLife 2014 Lin ST, Zhang L, Lin X, Zhang LC, Garcia VE, Tsai CW, Ptácek L, Fu YH
• Very large G protein-coupled receptor 1 regulates myelin-associated glycoprotein via Gαs/Gαq-mediated protein kinases A/C.
  Proceedings of the National Academy of Sciences of the United States of America 2013 Shin D, Lin ST, Fu YH, Ptácek LJ
• MicroRNA-23a promotes myelination in the central nervous system.
  Proceedings of the National Academy of Sciences of the United States of America 2013 Lin ST, Huang Y, Zhang L, Heng MY, Ptácek LJ, Fu YH
• Solving the mystery of human sleep schedules one mutation at a time.
  Critical reviews in biochemistry and molecular biology 2013 Hallows WC, Ptácek LJ, Fu YH
• Sick and tired: how molecular regulators of human sleep schedules and duration impact immune function.
  Current opinion in neurobiology 2013 Kurien PA, Chong SY, Ptácek LJ, Fu YH
• Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model.
  The Journal of clinical investigation 2013 Heng MY, Lin ST, Verret L, Huang Y, Kamiya S, Padiath QS, Tong Y, Palop JJ, Huang EJ, Ptácek LJ, Fu YH
• Episodic neurologic disorders: syndromes, genes, and mechanisms.
  Annual review of neuroscience 2013 Russell JF, Fu YH, Ptácek LJ
• Glucose sensor O-GlcNAcylation coordinates with phosphorylation to regulate circadian clock.
  Cell metabolism 2013 Kaasik K, Kivimäe S, Allen JJ, Chalkley RJ, Huang Y, Baer K, Kissel H, Burlingame AL, Shokat KM, Ptácek LJ, Fu YH
• Diversity of human clock genotypes and consequences.
  Progress in molecular biology and translational science 2013 Zhang L, Ptácek LJ, Fu YH
• PKCγ participates in food entrainment by regulating BMAL1.
  Proceedings of the National Academy of Sciences of the United States of America 2012 Zhang L, Abraham D, Lin ST, Oster H, Eichele G, Fu YH, Ptácek LJ
• Genetic insights on sleep schedules: this time, it's PERsonal.
  Trends in genetics : TIG 2012 Chong SY, Ptácek LJ, Fu YH
• Familial cortical myoclonus with a mutation in NOL3.
  Annals of neurology 2012 Russell JF, Steckley JL, Coppola G, Hahn AF, Howard MA, Kornberg Z, Huang A, Mirsattari SM, Merriman B, Klein E, Choi M, Lee HY, Kirk A, Nelson-Williams C, Gibson G, Baraban SC, Lifton RP, Geschwind …
• Casein kinase 1 proteomics reveal prohibitin 2 function in molecular clock.
  PloS one 2012 Kategaya LS, Hilliard A, Zhang L, Asara JM, Ptácek LJ, Fu YH
• Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia.
  The Journal of clinical investigation 2012 Lee HY, Nakayama J, Xu Y, Fan X, Karouani M, Shen Y, Pothos EN, Hess EJ, Fu YH, Edwards RH, Ptácek LJ
• Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
  Cell reports 2011 Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, …
• Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.
  Human molecular genetics 2011 Shen Y, Lee HY, Rawson J, Ojha S, Babbitt P, Fu YH, Ptácek LJ
• Adult-onset autosomal dominant leukodystrophy: linking nuclear envelope to myelin.
  The Journal of neuroscience : the official journal of the Society for Neuroscience 2011 Lin ST, Ptácek LJ, Fu YH
• The genetics of the human circadian clock.
  Advances in genetics 2011 Zhang L, Jones CR, Ptacek LJ, Fu YH
• Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease.
  Methods in cell biology 2010 Padiath QS, Fu YH
• Dicer ablation in oligodendrocytes provokes neuronal impairment in mice.
  Annals of neurology 2009 Shin D, Shin JY, McManus MT, Ptácek LJ, Fu YH
• The transcriptional repressor DEC2 regulates sleep length in mammals.
  Science (New York, N.Y.) 2009 He Y, Jones CR, Fujiki N, Xu Y, Guo B, Holder JL, Rossner MJ, Nishino S, Fu YH
• COL25A1 triggers and promotes Alzheimer's disease-like pathology in vivo.
  Neurogenetics 2009 Tong Y, Xu Y, Scearce-Levie K, Ptácek LJ, Fu YH
• miR-23 regulation of lamin B1 is crucial for oligodendrocyte development and myelination.
  Disease models & mechanisms 2009 Lin ST, Fu YH
• Oscillating per-cision.
  PLoS biology 2008 Fu YH
• Enrichment of HapMap recombination hotspot predictions around human nervous system genes: evidence for positive selection?
  European journal of human genetics : EJHG 2007 Freudenberg J, Fu YH, Ptácek LJ
• Human recombination rates are increased around accelerated conserved regions--evidence for continued selection?
  Bioinformatics (Oxford, England) 2007 Freudenberg J, Fu YH, Ptácek LJ
• Bioinformatic analysis of human CNS-expressed ion channels as candidates for episodic nervous system disorders.
  Neurogenetics 2007 Freudenberg J, Fu YH, Ptácek LJ
• Lamin B1 duplications cause autosomal dominant leukodystrophy.
  Nature genetics 2006 Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptácek LJ, Fu YH
• Clinic-based study of family history of vascular risk factors and migraine.
  The journal of headache and pain 2005 Yoon G, Baggaley S, Bacchetti P, Fu YH, Digre KB, Ptácek LJ
• Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome.
  Nature 2005 Xu Y, Padiath QS, Shapiro RE, Jones CR, Wu SC, Saigoh N, Saigoh K, Ptácek LJ, Fu YH
• Genetic approaches to human behavior.
  Methods in enzymology 2005 Ptácek LJ, Jones CR, Fu YH
• Channels and disease: past, present, and future.
  Archives of neurology 2004 Ptácek LJ, Fu YH
• The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
  Human molecular genetics 2004 Lee HY, Xu Y, Huang Y, Ahn AH, Auburger GW, Pandolfo M, Kwiecinski H, Grimes DA, Lang AE, Nielsen JE, Averyanov Y, Servidei S, Friedman A, Van Bogaert P, Abramowicz MJ, Bruno MK, Sorensen BF, Tang L, …