Ying-Hui Fu, PhD

+1 415 514-9310

Dr. Fu’s research uses human genetics combined with multiple model organisms to investigate molecular mechanisms of human conditions. Her laboratory has been focusing on two areas: one in myelin biology and the other in circadian rhythm and sleep behaviors. For myelin biology, they investigate the interlocking networks of protein-coding genes and non-coding RNAs in ensuring a healthy myelin. 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.


Mutant �1-adrenergic receptor improves REM sleep and ameliorates tau accumulation in a mouse model of tauopathy.

Proceedings of the National Academy of Sciences of the United States of America

Dong Q, Pt?cek LJ, Fu YH

An excitatory peri-tegmental reticular nucleus circuit for wake maintenance.

Proceedings of the National Academy of Sciences of the United States of America

Webb JM, Ma M, Yin C, Ptácek LJ, Fu YH

Familial natural short sleep mutations reduce Alzheimer pathology in mice.


Dong Q, Gentry NW, McMahon T, Yamazaki M, Benitez-Rivera L, Wang T, Gan L, Ptácek L, Fu YH

Microglia are involved in the protection of memories formed during sleep deprivation.

Neurobiology of sleep and circadian rhythms

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

Webb JM, Fu YH

Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait.

Current biology : CB

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

Fay AJ, 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

Xing L, Shi G, Mostovoy Y, Gentry NW, Fan Z, McMahon TB, Kwok PY, Jones CR, Ptácek LJ, Fu YH

A Rare Mutation of ß1-Adrenergic Receptor Affects Sleep/Wake Behaviors.


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

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

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

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

Chong SYC, Xin L, Ptácek LJ, Fu YH

FAD Regulates CRYPTOCHROME Protein Stability and Circadian Clock in Mice.

Cell reports

Hirano A, Braas D, Fu YH, Ptácek LJ

Human genetics and sleep behavior.

Current opinion in neurobiology

Shi G, Wu D, Ptácek LJ, Fu YH

The intricate dance of post-translational modifications in the rhythm of life.

Nature structural & molecular biology

Hirano A, Fu YH, Ptácek LJ

Sleep and Mood: Chicken or Egg?

Biological psychiatry

Ptáoek LJ, Fu YH, Krystal AD

A Cryptochrome 2 mutation yields advanced sleep phase in humans.


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

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

Howng SY, Huang Y, Ptácek L, Fu YH

Nuclear envelope regulates the circadian clock.

Nucleus (Austin, Tex.)

Zhang L, Ptáck LJ, Fu YH

Genetics of human sleep behavioral phenotypes.

Methods in enzymology

Hsu PK, Ptácek LJ, Fu YH

Nuclear envelope protein MAN1 regulates clock through BMAL1.


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 Gas/Gaq-mediated protein kinases A/C.

Proceedings of the National Academy of Sciences of the United States of America

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

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

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

Kurien PA, Chong SY, Ptácek LJ, Fu YH

Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model.

The Journal of clinical investigation

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

Russell JF, Fu YH, Ptácek LJ

Glucose sensor O-GlcNAcylation coordinates with phosphorylation to regulate circadian clock.

Cell metabolism

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

Zhang L, Ptácek LJ, Fu YH

PKC? participates in food entrainment by regulating BMAL1.

Proceedings of the National Academy of Sciences of the United States of America

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

Chong SY, Ptácek LJ, Fu YH

Familial cortical myoclonus with a mutation in NOL3.

Annals of neurology

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 DH, Fu YH, Ptácek LJ

Casein kinase 1 proteomics reveal prohibitin 2 function in molecular clock.

PloS one

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

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

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, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptácek LJ

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.

Human molecular genetics

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

Lin ST, Ptácek LJ, Fu YH

The genetics of the human circadian clock.

Advances in genetics

Zhang L, Jones CR, Ptacek LJ, Fu YH

Dicer ablation in oligodendrocytes provokes neuronal impairment in mice.

Annals of neurology

Shin D, Shin JY, McManus MT, Ptácek LJ, Fu YH

The transcriptional repressor DEC2 regulates sleep length in mammals.

Science (New York, N.Y.)

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.


Tong Y, Xu Y, Scearce-Levie K, Ptácek LJ, Fu YH

Oscillating per-cision.

PLoS biology


Lamin B1 duplications cause autosomal dominant leukodystrophy.

Nature genetics

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

Yoon G, Baggaley S, Bacchetti P, Fu YH, Digre KB, Ptácek LJ

Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome.


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

Ptácek LJ, Jones CR, Fu YH

Channels and disease: past, present, and future.

Archives of neurology

Ptácek LJ, Fu YH

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.

Human molecular genetics

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, Fu YH, Ptácek LJ