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Ying-Hui Fu, PhD

Title(s)Professor, Neurology
SchoolSchool of Medicine
Address1550 Fourth St
San Francisco CA 94158
Phone415-514-9310
ORCID ORCID Icon0000-0002-6628-0266 Additional info
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    Other Positions
    Title(s)UCSF Weill Institute for Neurosciences


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    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.

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    Investigating the neurocircuitry of sleep duration regulation
    NIH/NINDS R01NS104782Dec 19, 2017 - Nov 30, 2022
    Role: Principal Investigator
    The role of DEC2 and sleep in prevention of Alzheimer like pathology
    NIH/NIA R01AG054606Jul 1, 2017 - Apr 30, 2022
    Role: Principal Investigator
    Investigating Genetics of Human Natural Short Sleepers
    NIH/NINDS R01NS072360Sep 1, 2011 - Aug 31, 2016
    Role: Principal Investigator
    The role of Lamin B1 in myelin maintenance and demyelination
    NIH/NINDS R01NS062733Jul 20, 2009 - Jun 30, 2011
    Role: Principal Investigator
    A chemical genetic approach to dissect CKId &CKIe function in circadian rhythm
    NIH/NIGMS R01GM079180Sep 15, 2008 - Aug 31, 2012
    Role: Principal Investigator
    Molecular Basis of the Demylinating Disorder ADLD
    NIH/NINDS R01NS041331Apr 15, 2001 - Mar 31, 2004
    Role: Principal Investigator

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family. Ann Neurol. 2020 Jul 26. 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. PMID: 32715519.
      View in: PubMed   Mentions:    Fields:    
    2. Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation. Sci Transl Med. 2019 10 16; 11(514). Xing L, Shi G, Mostovoy Y, Gentry NW, Fan Z, McMahon TB, Kwok PY, Jones CR, Ptácek LJ, Fu YH. PMID: 31619542.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimals
    3. A Rare Mutation of ß1-Adrenergic Receptor Affects Sleep/Wake Behaviors. Neuron. 2019 09 25; 103(6):1044-1055.e7. 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. PMID: 31473062.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    4. Genetics of the human circadian clock and sleep homeostat. Neuropsychopharmacology. 2020 01; 45(1):45-54. Ashbrook LH, Krystal AD, Fu YH, Ptácek LJ. PMID: 31400754.
      View in: PubMed   Mentions: 1     Fields:    
    5. TIMELESS mutation alters phase responsiveness and causes advanced sleep phase. Proc Natl Acad Sci U S A. 2019 06 11; 116(24):12045-12053. Kurien P, Hsu PK, Leon J, Wu D, McMahon T, Shi G, Xu Y, Lipzen A, Pennacchio LA, Jones CR, Fu YH, Ptácek LJ. PMID: 31138685.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsCells
    6. DEC2 modulates orexin expression and regulates sleep. Proc Natl Acad Sci U S A. 2018 03 27; 115(13):3434-3439. Hirano A, Hsu PK, Zhang L, Xing L, McMahon T, Yamazaki M, Ptácek LJ, Fu YH. PMID: 29531056.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    7. Disorders of sleep and circadian rhythms. Handb Clin Neurol. 2018; 148:531-538. Chong SYC, Xin L, Ptácek LJ, Fu YH. PMID: 29478598.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimals
    8. FAD Regulates CRYPTOCHROME Protein Stability and Circadian Clock in Mice. Cell Rep. 2017 04 11; 19(2):255-266. Hirano A, Braas D, Fu YH, Ptácek LJ. PMID: 28402850.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    9. Human genetics and sleep behavior. Curr Opin Neurobiol. 2017 06; 44:43-49. Shi G, Wu D, Ptácek LJ, Fu YH. PMID: 28325617.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    10. The intricate dance of post-translational modifications in the rhythm of life. Nat Struct Mol Biol. 2016 Dec 06; 23(12):1053-1060. Hirano A, Fu YH, Ptácek LJ. PMID: 27922612.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansAnimalsCells
    11. Sleep and Mood: Chicken or Egg? Biol Psychiatry. 2016 12 01; 80(11):810-811. Ptáoek LJ, Fu YH, Krystal AD. PMID: 27968724.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    12. A Cryptochrome 2 mutation yields advanced sleep phase in humans. Elife. 2016 08 16; 5. Hirano A, Shi G, Jones CR, Lipzen A, Pennacchio LA, Xu Y, Hallows WC, McMahon T, Yamazaki M, Ptácek LJ, Fu YH. PMID: 27529127.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansAnimalsCells
    13. A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait. Proc Natl Acad Sci U S A. 2016 Mar 15; 113(11):E1536-44. 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. PMID: 26903630.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansAnimalsCells
    14. Understanding the role of dicer in astrocyte development. PLoS One. 2015; 10(5):e0126667. Howng SY, Huang Y, Ptácek L, Fu YH. PMID: 25962146.
      View in: PubMed   Mentions: 9     Fields:    Translation:AnimalsCells
    15. Nuclear envelope regulates the circadian clock. Nucleus. 2015; 6(2):114-7. Zhang L, Ptáck LJ, Fu YH. PMID: 25746393.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    16. Genetics of human sleep behavioral phenotypes. Methods Enzymol. 2015; 552:309-24. Hsu PK, Ptácek LJ, Fu YH. PMID: 25707283.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimals
    17. Nuclear envelope protein MAN1 regulates clock through BMAL1. Elife. 2014 Sep 02; 3:e02981. Lin ST, Zhang L, Lin X, Zhang LC, Garcia VE, Tsai CW, Ptácek L, Fu YH. PMID: 25182847.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    18. Very large G protein-coupled receptor 1 regulates myelin-associated glycoprotein via Gas/Gaq-mediated protein kinases A/C. Proc Natl Acad Sci U S A. 2013 Nov 19; 110(47):19101-6. Shin D, Lin ST, Fu YH, Ptácek LJ. PMID: 24191038.
      View in: PubMed   Mentions: 15     Fields:    Translation:AnimalsCells
    19. MicroRNA-23a promotes myelination in the central nervous system. Proc Natl Acad Sci U S A. 2013 Oct 22; 110(43):17468-73. Lin ST, Huang Y, Zhang L, Heng MY, Ptácek LJ, Fu YH. PMID: 24101522.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansAnimalsCells
    20. Solving the mystery of human sleep schedules one mutation at a time. Crit Rev Biochem Mol Biol. 2013 Sep-Oct; 48(5):465-75. Hallows WC, Ptácek LJ, Fu YH. PMID: 24001255.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    21. Sick and tired: how molecular regulators of human sleep schedules and duration impact immune function. Curr Opin Neurobiol. 2013 Oct; 23(5):873-9. Kurien PA, Chong SY, Ptácek LJ, Fu YH. PMID: 23702243.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimals
    22. Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model. J Clin Invest. 2013 Jun; 123(6):2719-29. Heng MY, Lin ST, Verret L, Huang Y, Kamiya S, Padiath QS, Tong Y, Palop JJ, Huang EJ, Ptácek LJ, Fu YH. PMID: 23676464.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansAnimalsCells
    23. Episodic neurologic disorders: syndromes, genes, and mechanisms. Annu Rev Neurosci. 2013 Jul 08; 36:25-50. Russell JF, Fu YH, Ptácek LJ. PMID: 23642134.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    24. Glucose sensor O-GlcNAcylation coordinates with phosphorylation to regulate circadian clock. Cell Metab. 2013 Feb 05; 17(2):291-302. Kaasik K, Kivimäe S, Allen JJ, Chalkley RJ, Huang Y, Baer K, Kissel H, Burlingame AL, Shokat KM, Ptácek LJ, Fu YH. PMID: 23395175.
      View in: PubMed   Mentions: 65     Fields:    Translation:HumansAnimalsCells
    25. Diversity of human clock genotypes and consequences. Prog Mol Biol Transl Sci. 2013; 119:51-81. Zhang L, Ptácek LJ, Fu YH. PMID: 23899594.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    26. PKC? participates in food entrainment by regulating BMAL1. Proc Natl Acad Sci U S A. 2012 Dec 11; 109(50):20679-84. Zhang L, Abraham D, Lin ST, Oster H, Eichele G, Fu YH, Ptácek LJ. PMID: 23185022.
      View in: PubMed   Mentions: 12     Fields:    Translation:AnimalsCells
    27. Genetic insights on sleep schedules: this time, it's PERsonal. Trends Genet. 2012 Dec; 28(12):598-605. Chong SY, Ptácek LJ, Fu YH. PMID: 22939700.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    28. Familial cortical myoclonus with a mutation in NOL3. Ann Neurol. 2012 Aug; 72(2):175-83. 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. PMID: 22926851.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    29. Casein kinase 1 proteomics reveal prohibitin 2 function in molecular clock. PLoS One. 2012; 7(2):e31987. Kategaya LS, Hilliard A, Zhang L, Asara JM, Ptácek LJ, Fu YH. PMID: 22384121.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    30. Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. J Clin Invest. 2012 Feb; 122(2):507-18. Lee HY, Nakayama J, Xu Y, Fan X, Karouani M, Shen Y, Pothos EN, Hess EJ, Fu YH, Edwards RH, Ptácek LJ. PMID: 22214848.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimalsCells
    31. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 2012 Jan 26; 1(1):2-12. 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. PMID: 22832103.
      View in: PubMed   Mentions: 74     Fields:    Translation:HumansAnimalsCells
    32. Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. Hum Mol Genet. 2011 Jun 15; 20(12):2322-32. Shen Y, Lee HY, Rawson J, Ojha S, Babbitt P, Fu YH, Ptácek LJ. PMID: 21487022.
      View in: PubMed   Mentions: 12     Fields:    Translation:AnimalsCells
    33. Adult-onset autosomal dominant leukodystrophy: linking nuclear envelope to myelin. J Neurosci. 2011 Jan 26; 31(4):1163-6. Lin ST, Ptácek LJ, Fu YH. PMID: 21273400.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    34. The genetics of the human circadian clock. Adv Genet. 2011; 74:231-47. Zhang L, Jones CR, Ptacek LJ, Fu YH. PMID: 21924979.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    35. Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease. Methods Cell Biol. 2010; 98:337-57. Padiath QS, Fu YH. PMID: 20816241.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimalsCells
    36. Dicer ablation in oligodendrocytes provokes neuronal impairment in mice. Ann Neurol. 2009 Dec; 66(6):843-57. Shin D, Shin JY, McManus MT, Ptácek LJ, Fu YH. PMID: 20035504.
      View in: PubMed   Mentions: 75     Fields:    Translation:AnimalsCells
    37. The transcriptional repressor DEC2 regulates sleep length in mammals. Science. 2009 Aug 14; 325(5942):866-70. He Y, Jones CR, Fujiki N, Xu Y, Guo B, Holder JL, Rossner MJ, Nishino S, Fu YH. PMID: 19679812.
      View in: PubMed   Mentions: 97     Fields:    Translation:HumansAnimalsCells
    38. COL25A1 triggers and promotes Alzheimer's disease-like pathology in vivo. Neurogenetics. 2010 Feb; 11(1):41-52. Tong Y, Xu Y, Scearce-Levie K, Ptácek LJ, Fu YH. PMID: 19548013.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansAnimalsCells
    39. miR-23 regulation of lamin B1 is crucial for oligodendrocyte development and myelination. Dis Model Mech. 2009 Mar-Apr; 2(3-4):178-88. Lin ST, Fu YH. PMID: 19259393.
      View in: PubMed   Mentions: 68     Fields:    Translation:HumansAnimalsCells
    40. Oscillating per-cision. PLoS Biol. 2008 Jul 29; 6(7):e192. Fu YH. PMID: 18666835.
      View in: PubMed   Mentions: 5     Fields:    Translation:AnimalsCells
    41. Enrichment of HapMap recombination hotspot predictions around human nervous system genes: evidence for positive selection? Eur J Hum Genet. 2007 Oct; 15(10):1071-8. Freudenberg J, Fu YH, Ptácek LJ. PMID: 17568387.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    42. Human recombination rates are increased around accelerated conserved regions--evidence for continued selection? Bioinformatics. 2007 Jun 15; 23(12):1441-3. Freudenberg J, Fu YH, Ptácek LJ. PMID: 17463031.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    43. Bioinformatic analysis of human CNS-expressed ion channels as candidates for episodic nervous system disorders. Neurogenetics. 2007 Aug; 8(3):159-68. Freudenberg J, Fu YH, Ptácek LJ. PMID: 17333079.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    44. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet. 2006 Oct; 38(10):1114-23. Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptácek LJ, Fu YH. PMID: 16951681.
      View in: PubMed   Mentions: 135     Fields:    Translation:HumansAnimalsCells
    45. Clinic-based study of family history of vascular risk factors and migraine. J Headache Pain. 2005 Oct; 6(5):412-6. Yoon G, Baggaley S, Bacchetti P, Fu YH, Digre KB, Ptácek LJ. PMID: 16362715.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    46. Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. Nature. 2005 Mar 31; 434(7033):640-4. Xu Y, Padiath QS, Shapiro RE, Jones CR, Wu SC, Saigoh N, Saigoh K, Ptácek LJ, Fu YH. PMID: 15800623.
      View in: PubMed   Mentions: 253     Fields:    Translation:HumansAnimalsCells
    47. Genetic approaches to human behavior. Methods Enzymol. 2005; 393:239-50. Ptácek LJ, Jones CR, Fu YH. PMID: 15817292.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    48. Channels and disease: past, present, and future. Arch Neurol. 2004 Nov; 61(11):1665-8. Ptácek LJ, Fu YH. PMID: 15534176.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    49. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet. 2004 Dec 15; 13(24):3161-70. 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. PMID: 15496428.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansAnimals
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