PEER REVIEWED PUBLICATIONS: 

  • Fu Y-H, Marzluf GA. Characterization of nit2, the major nitrogen regulatory gene of Neurospora crassa. Molec Cell Biol 1987 May, 7, 16911696.                                                         
  • Fu Y-H, Marzluf GA. Molecular cloning and analysis of the regulation of nit3, the structural gene for nitrate reductase in Neurospora crassa. Proc Natl Acad Sci USA 1987 Dec, 84(23):82438247.
  • Fu Y-H, Marzluf GA. Metabolic control and autogenous regulation of nit3, the nitrate reductase structural gene of Neurospora crassa. J Bacteriol. 1988 Feb, 170(2):657661.
  • Fu Y-H, Young JL, Marzluf GA. Molecular cloning and characterization of a negativeacting nitrogen regulatory gene of Neurospora crassa. Mol Gen Genet. 1988 Sep, 214(1):7479.
  • Fu Y-H, Paietta JV, Mannix DG, Marzluf GA. cys3, the positiveacting sulfur regulatory gene of Neurospora crassa, encodes a protein with a putative leucine zipper DNAbinding element. Mol Cell Biol. 1989 Mar, 9(3):11201127.
  • Fu Y-H, Kneesi JY, Marzluf GA. Isolation of nit4, the minor nitrogen regulatory gene which mediates nitrate induction in Neurospora crassa. J Bacteriol. 1989 Jul, 171(7):40674070.
  • Young JL, Jarai G, Fu Y-H, Marzluf GA. Nucleotide sequence and analysis of NMR, a negativeacting regulatory gene in the nitrogen circuit of Neurospora crassa. Mol Gen Genet. 1990 Jun, 222(1):120128.
  • Lee HJ, Fu Y-H, Marzluf GA. Molecular cloning and characterization of alc, the gene encoding allantoicase of Neurospora crassa. Mol Gen Genet. 1990 Jun, 222(1):140144.
  • Fu Y-H, Marzluf GA. cys-3, the positive-acting sulfur regulatory gene of Neurospora crassa, encodes a sequence-specific DNA-binding protein. J Biol Chem. 1990 Jul 15, 265:1194211947.
  • Fu Y-H, Marzluf GA. nit-2, the major nitrogen regulatory gene of Neurospora crassa, encodes a protein with a putative zinc finger DNA-binding domain. Mol Cell Biol. 1990 Mar, 10(3):10561065.
  • Fu Y-H, Marzluf GA. nit2, the major positive-acting nitrogen regulatory gene of Neurospora crassa encodes a sequence specific DNAbinding protein. Proc Natl Acad Sci USA 1990 Jul, 87(14):53315335.
  • Jarai G, Yagmai B, Fu Y-H, Marzluf GA. Regulation of branchedchain amino acids biosynthesis in Neurospora crassa: cloning and characterization of the leu1and ilv3 genes. Molec Gen Genet. 1990 Dec, 224(3):383388.
  • Lee HJ, Fu Y-H, Marzluf GA. Nucleotide sequence and DNA recognition elements of alc, the structural gene which encodes allantoicase, a purine catabolic enzyme of Neurospora crassa. Biochemistry 1990 Sep 18, 29(37):87798786.
  • Fu Y-H, Marzluf GA. Sitedirected mutagenesis of the 'zinc finger' DNAbinding domain of the nitrogen-regulatory protein nit-2 of Neurospora crassa. Mol Microbiol. 1990 Nov, 4(11):18471852.
  • Ketter JS, Jarai G, Fu Y-H, Marzluf GA. Nucleotide sequence, messenger RNA stability, and DNA recognition elements of cys14, the structural gene for sulfate permease II in Neurospora crassa. Biochemistry 1991 Feb 19, 30(7):17801787.
  • Okamoto PM, Fu Y-H, Marzluf GA. nit-3, the structural gene of nitrate reductase in Neurospora crassa: nucleotide sequence and regulation of mRNA synthesis and turnover. Mol Gen Genet. 1991 Jun, 227(2):213223.
  • Verkerk AJ, Pieretti M, Sutcliffe JS, Fu Y-H, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, Eussen BE, vanOmmen GB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST. Identification of a gene (FMR1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991 May 31, 65(5):904914.
  • Pieretti M, Zhang FP, Fu Y-H, Warren ST, Oostra BA, Caskey CT, Nelson DL. Absence of          expression of the FMR1 gene in fragile X syndrome. Cell 1991 Aug 23, 66(4):817822.
  • Yuan GF, Fu Y-H, Marzluf GA. nit4, a pathwayspecific regulatory gene of Neurospora crassa, encodes a protein with a putative binuclear zinc DNAbinding domain. Mol Cell Biol. 1991 Nov, 11(11):57355745.
  • Fu Y-H, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr, Warren ST, Oostra BA, Nelson DL, Caskey CT. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991 Dec 20, 67(6):10471056.
  • Kanaan MN, Fu Y-H, Marzluf GA. The DNAbinding domain of the Cys3 regulatory protein of Neurospora crassa is bipartite. Biochemistry 1992 Mar 31, 31(12):31973203.
  • Verkerk AJ, deVries BB, Niermeijer MF, Fu Y-H, Nelson DL, Warren ST, MajoorKrakauer DF, Halley DJ, Oostra BA. Intragenic probe used for diagnostics in fragile X families. Am J Med Genet. 1992 Apr 15-May 1, 43(1-2):192196.
  • Fu Y-H, Pizzuti A, Fenwick,Jr., RG, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, DeJong P, Wieringa B, Korneluk R, Perryman BM, Epstein HF, Caskey CT. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992, 255:12561258.
  • Caskey CT, Pizzuti A, Fu Y-H, Fenwick RG Jr, Nelson DL. Triplet repeat mutations in human disease. Science 1992 May 8, 256(5058):784789.
  • Ashizawa T, Dubel JR, Dunne PW, Dunne CJ, Fu Y-H, Pizzuti A, Caskey CT, Boerwinkle E, Perryman MB, Epstein HF, Hejtmancik JF. Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat. Neurology 1992 Oct, 42(10):18771883.
  • Redman JB, Fenwick RG Jr, Fu Y-H, Pizzuti A, Caskey CT. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. JAMA 1993 Apr 21, 269(15):19601965.
  • Perryman MB, Friedman DL, Fu Y-H, Caskey CT. Molecular mechanism of myotonic dystrophy. Trends in cardiovascular medicine. 1993.
  • Fu Y-H, Friedman DL, Richards S, Pearlman JA, Gibbs RA, Pizzuti A, Ashizawa T, Perryman MB, Fenwick RG Jr, Caskey CT. Decreased expression of myotoninprotein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science 1993 Apr 9, 260(5105):235238.
  • Fu Y-H, Feng B, Evans S, Marzluf GA. Sequence-specific DNA binding by NIT4, the pathwayspecific regulatory protein that mediates nitrate induction in Neurospora. Mol Microbiol. 1995 Mar, 15(5):935942.
  • Xiao X, Fu Y-H, Marzluf GA. The negativeacting NMR regulatory protein of Neurospora crassa binds to and inhibits the DNAbinding activity of the positiveacting nitrogen regulatory protein NIT2. Biochemistry 1995 Jul 11, 34(27):88618868.
  • LevyLahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu C, Jondro PD, Schmidt SD, Wang K, Crowley AC, Fu Y-H, Guenette SY, Galas D, Nemens E, Wejsman EM, Bird TD, Schellenberg GD, Tanzi RE. Candidate gene for the chromosome 1 familial Alzheimer’s disease locus. Science 1995, 269:973977.
  • Fu Y-H. Identification of a novel protein, DMAP, which interacts with the myotonic dystrophy protein kinase and shows strong homology to D1 snRNP. Genetica 1996 Jan, 97(1):117125.
  • LevyLahad E, Poorkaj P, Wang K, Fu Y-H, Oshima J, Mulligan J, Schellenberg GD. Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene. Genomics 1996 Jun 1, 34(2):198204.
  • Yu CE#, Oshima J#, Fu Y-H#, Wijsman EM, Hisama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD (The first three authors contributed equally). Positional cloning of the Werner’s syndrome gene. Science 1996 Apr 12, 272(5259):258261. (# co-first authors)
  • Yu CE, Oshima J, Wijsman EM, Nakura J, Miki T, Piussan C, Matthews S, Fu Y-H, Mulligan J, Martin GM, Schellenberg GD. Mutations in the consensus helicase domains of the Werner syndrome gene. Am. J. Hum. Genet. 1997 Feb, 60(2):330341.
  • Hisama FM, Oshima J, Yu CE, Fu Y-H, Mulligan J, Weissman SM, Schellenberg GD. Comparison of methods for identifying transcription units and transcription map of the Werner syndrome gene region. Genomic 1998 Sep 15, 52(3):352-357.
  • Coffeen CM, McKenna CE, Koeppen AH, Plaster NM, Maragakis N, Mihalopoulos J, Schwankhaus JD, Flanigan KM, Gregg RG, Ptáček LJ, Fu Y-H. Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31. Hum Mol Genet. 2000; 9:787-93.
  • Toh KL, Jones CR, He Y, Eide EJ, Hinz WA, Virshup DM, Ptáček LJ, Fu Y-H. An hPer2 phosphorylation site mutation in familial advanced sleep-phase syndrome. Science. 2001;291:1040-3. 
  • Einum DD, Townsend JJ, Ptáček LJ, Fu Y-H. Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients. Neurogenetics. 2001, 3:83-90. 
  • Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu Y-H, Ptáček LJ. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen’s syndrome. Cell. 2001, 105:511-9.
  • Skradski SL, Clark AM, Jiang H, White HS, Fu Y-H, Ptáček LJ. A novel gene causing a Mendelian audiogenic mouse epilepsy. Neuron. 2001, 31:537-44.
  • La Spada AR, Fu Y-H, Sopher BL, Libby RT, Wang X, Li LY, Einum DD, Huang J, Possin DE, Smith AC, Martinez RA, Koszdin KL, Treuting PM, Ware CB, Hurley JB, Ptáček LJ, Chen S. Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. Neuron. 2001, 31:913-27.
  • Bendahhou S, Cummins TR, Griggs RC, Fu Y-H, Ptáček LJ. Sodium channel inactivation defects associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Ann Neurol. 2001, 50:417-20.
  • Matilla A, Gorbea C, Einum DD, Townsend J, Michalik A, van Broeckhoven C, Jensen CC, Murphy KJ, Ptáček LJ, Fu Y-H. Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. Hum Mol Genet. 2001, 10:2821-31. 
  • Brunkow ME, Fardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier, JE, Zhao L, Sabo PJ, Fu Y-H, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P and Mulligan JT. Bone Dysplasis Sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.  Am J Hum Genet. 2001, 68(3):577-589.
  • Bendahhou S, Cummins TR, Kula RW, Fu Y-H, Ptáček LJ. Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5. Neurology. 2002, 58:1266-72.
  • Garden GA, Libby RT, Fu Y-H, Kinoshita Y, Huang J, Possin DE, Smith AC, Martinez RA, Fine GC, Grote SK, Ware CB, Einum DD, Morrison RS, Ptáček LJ, Sopher BL, La Spada AR. Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous Purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice. J Neurosci. 2002, 22(12):4897-905.
  • Einum DD, Clark AM, Townsend JJ, Ptáček LJ, Fu Y-H. A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. Arch Neurol. 2003, 60:97-103. 
  • Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwieciński H, Fidzianska A, Plaster N, Fu Y-H, Ptáček LJ, Tawil R. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) J Clin Invest. 2002 Aug 1;110(3):381-8.
  • Nakayama J, Fu Y-H, Clark AM, Nakahara S, Hamano K, Iwasaki N, Matsui A, Arinami T, Ptáček LJ. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol. 2002;52:654-7.
  • Libby RT, Monckton DG, Fu Y-H, Martinez RA, McAbney JP, Lau R, Einum DD, Nichol K, Ware CB, Ptáček LJ, Pearson CE, La Spada AR. Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice. Hum Mol Genet. 2003; 12:41-50.
  • Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, Cobo AM, Poza JJ, Behr E, Wagstaff J, Szepetowski P, Pereira S, Mozaffar T, Escolar DM, Fu Y-H, Ptáček LJ. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology. 2003 Jun 10;60(11):1811-6.
  • Bendahhou S, Donaldson MR, Plaster NM, Tristani-Firouzi M, Fu Y-H, Ptáček LJ. Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J Biol Chem. Dec. 19, 2003;278(51):51779-85.
  • Donaldson MR, Yoon G, Fu Y-H, Ptáček LJ. Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. Ann Med. 2004; 36 Suppl 1: 92-7.
  • Klein BD, Fu Y-H, Ptáček LJ, White HS. cFos immunohistochemical mapping of the audiogenic seizure network and tonotopic neuronal hyperexcitability in the inferior colliculus of the Frings mouse. Epilepsy Res. 2004 Nov;62(1):13-25.
  • Miller TM, Dias da Silva MR, Miller HA, Kwieciński H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu Y-H, Ptáček LJ. Correlating phenotype and genotype in the periodic paralyses. Neurology. 2004; 63(9):1647-55.
  • Lee HY, Xu Y, Huang Y, Ahn AH, Aubuger GW, Pandolfo M, Kwieciński 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 Y-H, Ptáček LJ. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet. 2004;13(24);3161-70.
  • Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen BF, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu Y-H, Ptáček LJ. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004;63:2280-7.
  • Xu Y, Padiath QS, Shapiro RE, Jones CR, Wu SC, Saigoh N, Saigoh K, Ptáček LJ, Fu Y-H. Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome. Nature. 2005;434:640-4.
  • Zhang L, Benson DW, Tristani-Firouzi M, Ptáček LJ, Tawil R, Schwartz PJ, George AL, Horie M, Andelfinger G, Snow GL, Fu Y-H, Ackerman MJ, Vincent GM. Electocardiographic features in Anderson-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U wave patterns predict the KCNJ2 genotype. Circulation. 2005; 111:2720-6.
  • Klein BD, Fu Y-H, Ptáček LJ, White HS. Auditory deficits associated with the Frings Mgr1 (Mass1) mutation in mice. Dev Neurosci. 2005, 27:321-32.
  • Yoon G, Baggaley S, Bacchetti P, Fu Y-H, Digre KB, Ptáček LJ. Clinic-based study of family history of vascular risk factors and migraine. J Headache Pain. 2005:6: 412-6.
  • Yoon G, Oberoi S, Tristani-Firouzi M, Etheridge SP, Quitania L, Kramer JH, Miller BL, Fu Y-H, Ptáček LJ. Andersen-Tawil syndrome: Prospective cohort analysis and expansion of the phenotype. Am J Med Genet A. 2006 Feb 15;140(4):312-21.
  • Yoon G, Quitania L, Kramer JH, Fu Y-H, Miller BL, Ptáček LJ. Andersen-Tawil syndrome: definition of a neurocognitive phenotype. Neurology. 2006 Jun 13;66(11):1703-10.
  • Padiath QS, Saigoh K, Schiffman R, Asahara H, Koeppen A, Hogan K, Ptáček LJ, Fu Y-H*. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet. 2006 Oct ; 38(10)1114-23. Epub 2006 Sep 3. (*Corresponding author)
  • Çaksen H, Ptáček LJ, Üner A, Fu Y-H, Erol M, Anlar Ö, Yilmaz C, Güven AS. Report of a Turkish girl with Andersen-Tawil syndrome. J Pediatr Neurol. 2006 (4) 279-82.
  • Xu Y, Toh KL, Jones CR, Shin JY, Fu Y-H, Ptáček LJ. Modeling of a human circadian mutation yields insights into clock regulation by PER2. Cell. 2007 Jan 12:128(1):59-70. (Co-Corresponding author)
  • Freudenberg J, Fu Y-H, Ptáček LJ. Bioinformatic analysis of human CNS-expressed ion channels as candidates for episodic nervous system disorders. Neurogenetics. 2007 Feb 27; [Epub ahead of print].
  • Carr JA, van der Walt PE, Nakayama J, Fu Y-H, Corfield V, Brink P, Ptáček LJ. FAME 3: a novel form of progressive myoclonus and epilepsy. Neurology. 2007 Apr 24:68(17):1382-9.
  • Freudenberg J, Fu Y-H, Ptáček LJ. Human Recombination Rates Are Increased Around Accelerated Conserved Regions - Evidence for Continued Selection? Bioinformatics. 2007 Jun 15;23(12):1441-3. Epub 2007 Apr 26; 
  • Bruno MK, Lee HY, Auburger GW, Friedman A, Nielsen JE, Lang AE, Bertini E, Van Bogaert P, Averyanov Y, Hallett M, Gwinn-Hardy K, Sorenson B, Pandolfo M, Kwieciński H, Servidei S, Fu Y-H, Ptáček LJ. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology. 2007 May 22;68(21):1782-9.
  • Freudenberg J, Fu Y-H, Ptáček LJ. 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. Epub 2007 Jun 13;
  • Ptáček LJ, Jones CR, Fu Y-H. Novel insights from genetic and molecular characterization of the human clock. Cold Spring Harb Symp Quant Biol. 2007;72:273-7.
  • Kilduff T, Lein E, de la Iglesia H, Sakurai T, Fu Y-H, and Shaw P. New Developments in Sleep Research: Molecular Genetics, Gene Expression, and Systems Neurobiology. J. of Neuroscience. J of Neuroscience 2008 28(46):11814-11818. 
  • Lin S-T and Fu Y-H. miR-23 Regulation of Lamin B1 is Critical for Oligodendrocyte Development and Myelination. Disease Model and Mechanism 2009 2:178-188. 
  • He Y, Jones CR, Fujiki N, Xu Y, Guo B, Holder J, Nishino S, and Fu Y-H. The transcriptional repressor DEC2 regulates sleep length in mammals. Science 2009 325:866.
  • Shin D, Shin J, McManus MT, Ptáček LJ, and Fu Y-H. Dicer Ablation in Oligodendrocytes Provokes Neuronal Iimpairment in Mice. Annal Neurology 2009, 66(6):843-57.
  • Tong Y, Xu Y, Scearce-Levie K, Ptáček LJ, and Fu Y-H. Col25A1 triggers and promotes Alzheimner’s disease-like pathology in vivo. Neurogenetics 2010, (1):41-52.
  • Rochette J, Roll P, Fu Y-H, Lemoing AG, Royer B, Roubertie A, Berquin P, Motte J, Wong SW, Hunter A, Robaglia-Schlupp A, Ptacek LJ, Szepetowski P. Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome. Epileptic Disord. 2010 Sep;12(3):199-204. Epub 2010 Aug 17
  • Costa MJ, So AY, Kaasik K, Krueger KC, Pillsbury ML, Fu Y-H, Ptáček LJ, Yamamoto KR, Feldman BJ. Circadian rhythm gene period 3 is an inhibitor of the adipocyte cell fate. J Biol Chem. 2011 Mar 18; 286(11):9063-70.
  • Shen Y, Lee HY, Rawson J, Fu Y-H, Ptáček LJ. Mutations in PNKD causing paroxysmal dyskinesia alter protein cleavage and stability. Hum Mol Genet 2011 Jun 15; 20(12):2322-32
  • Lee H-Y, Nakayama J, Xu Y, Fan X, Karouani M, Shen Y, Pothos E, Hess E, Fu Y-H, Edwards RH, Ptáček LJ. Dopamine dysregulation in a mouse model of paroxysmal non-kinesigenic dyskinesia. Journal of Clinical Investigation. 2012 Feb 1; 122(2):507-18. 
  • Kategaya L, Hilliard A, Zhang L, Asara JM, Ptáček LJ and Fu Y-H. Casein Kinase 1 Temporal Proteomics Reveal Prohibitin 2 Function in Molecular Clock. PLos ONE. 2012; 7(2):e31987.
  • Lee HY, Huang Y, Bruneau N, ….. Fu Y-H, Ptáček LJ. Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions Cell Reports. 2012 Jan 26: 1(1):2-12. 
  • Shin D, Howng SY, Ptáček LJ, Fu YH. miR-32 and its target SLC45A3 regulate the lipid metabolism of oligodendrocytes and myelin. Neuroscience. 2012 Jun 28; 213:29-37.  Apr 17. 
  • Russell JF, Steckley JL, Coppola G, Hahn AF, Kornberg Z, Huang A, Merriman B, Klein E, Choi M, Lee H-Y, Kirk A, Nelson-Williams C, Gibson G, Lifton RP, Geschwind  DH, Fu Y-H, Ptáček LJ.  Familial Cortical Myoclonus Caused by Mutation in NOL3. Annals of Neurology. 2012 Aug;72(2):175-83. 
  • Cloarec R, Bruneau N, Rudolf G, Massacrier A, Salmi M, Bataillard M, Boulay C, Caraballo R, Fejerman N, Genton P, Hirsch E, Hunter A, Lesca G, Motte J, Roubertie A, Sanlaville D, Wong S-W, Fu Y-H, Rochette J, Ptáček LJ, Szepetowski P. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology. 2012 Nov 20;79(21):2097-2103 
  • Zhang L, Abraham D, Nishino S, Oster H, Fujiki N, Gregor Eichele, Fu YH, Ptáček LJ. PKCγ Participates in the Entrainment of the Cerebral Circadian Clocks by Feeding. Proc Natl Acad Sci USA. 2012 Dec 11;109(50):20679-84. 
  • Kaasik K, Kivimäe S, Allen JJ, Chalkley RJ, Huang Y, Baer K, Kissel H, Burlingame AL, Shokat KM, Ptáček LJ, Fu Y-H. Glucose Sensor O-GlcNAcylation Coordinates with Phosphorylation to Regulate Circadian Clock.Cell Metab. 2013 Feb 5;17(2):291-302. 
  • Brennan KC, Bates EA, Shapiro RE, Zyuzin J, Hallows WC, Huang Y, Lee H-Y, Jones CR, Fu Y-H, Charles AC, Ptáček LJ. Casein kinase Iδ mutations in familial migraine and advanced sleep phase. Science Translational Medicine. 2013 May 1;5(183):183ra53.
  • Heng MY, Lin S-T, Verret L, Huang Y,  Kamiya S, Palop JJ,  Huang EJ, Ptáček LJ, Fu Y-H. Lamin B1 Mediates Cell-Autonomous Neuropathology in a Leukodystrophy Mouse Model. J Clin Invest. 2013 June.

OTHER PUBLICATIONS: 

  • Marzluf GA, Fu Y-H. Genetic and metabolic regulation of nitrogen metabolism in Neurospora crassa. In: Nitrogen Source control of Microbial Processes. CRC Press, 1988; pp 8398.
  • Marzluf GA, Fu Y-H. Genetics, regulation and molecular studies of nitrate assimilation in Neurospora crassa. In: Molecular and Genetic Aspects of Nitrate Assimilation. Oxford University Press, 1989; pp 31629.
  • Fu Y-H, Lee HJ, Young JL, Jarai G, Marzluf GA. Nitrogen and sulfur regulatory circuits of Neurospora crassa. UCLA Symposia on Molecular and Cellular Biology. 1989.
  • Marzluf GA, Fu Y-H. Molecular analysis of the nitrogen and the sulfur regulatory circuits of Neurospora crassa. ASM Symposium: Genetics and Molecular Biology of Industrial Microorganisms 1989.
  • Marzluf GA, Fu Y-H. Genetic regulation of nitrogen metabolism in Neurospora crassa. In: International Congress on Inorganic Nitrogen Metabolism. SpringerVerlag, 1990; pp 296302.
  • Marzluf GA, Kanaan M, Fu Y-H. Molecular analysis of DNAbinding, transacting regulatory proteins of Neurospora crassa. In Molecular Genetics of Filamentus Fungi. Eds., U. Stahl and P. Tudzynski, 1992.
  • Fu Y-H, Abele M, Ptáček LJ. Spinocerebellar ataxia type 4. In: Handbook of Ataxia Disorders. Marcel Dekker. 2000, pp. 425-33.
  • Ptáček LJ, Fu Y-H. Channelopathies: episodic disorders of the nervous system. Epilepsia, 2001; 42 Suppl 5:35-43.
  • Fu Y-H, Ptáček LJ. Spinocerebellar ataxia type 4. In: The Cerebellum and its Disorders, Cambridge University Press, 2002, pp. 440-4.
  • Ptáček LJ, Fu Y-H. Molecular biology of episodic movement disorders. Adv Neurol. 2002;89:453-8.
  • Ptáček LJ, Fu Y-H. What’s new in epilepsy genetics? Mol Psychiatry. 2003 May;8(5):463-5.
  • Uyama E, Fu Y-H, Ptáček LJ. Familial adult-onset myoclonic epilepsy (FAME). Adv Neurol. 2005;95:281-8.
  • Ptáček LJ, Jones CR, Fu Y-H. Genetic approaches to human behavior. Methods Enzymol. 2005;393:239-50.
  • Ptáček LJ, Fu Y-H. Channels and Disease: Past, Present, and Future. Arch Neurol. Nov 2004;61:1665-8.
  • Ptáček LJ, Fu Y-H, Koeppen A. The dominant form of vanishing white matter-like leukoencephalopathy represents autosomal dominant leukodystrophy. Ann Neurol. 2006 Jan 25;59(2):434.
  • Freudenberg J, Fu Y-H, Ptáček LJ. Approaching inherited disease on a genomic scale. Curr Genomics. 2005 6:545-50.
  • Fu Y-H. Oscillating Per-cision. PLos Biology. 2008. Invited “Primer”.
  • Padiath QS and Fu Y-H. Autosomal Dominant Leukodystrophy caused by Laming B1 Duplications: A Clinical and Molecular Case Study of Altered Nuclear Function and Disease. Book chaper in Methods in Cell Biology. 2010.
  • Lin S, Ptáček LJ, Fu Y-H. Adult Onset Autosomal Dominant Leukodystrophy: Linking Nuclear Envelope to Myelin.  Journal of Neuroscience 2011.
  • Zhang L, Ptáček LJ, Fu Y-H. The Genetics of the Human Circadian Clock. Genetics of Circadian Rhythm. Edited book chapter. 2011.
  • Chong S.Y, Ptáček LJ, Fu Y-H. Genetic insights on sleep schedules: This Time, It’s PERsonal. Trends Genet. 2012 Dec;28(12):598-605 
  • Huang Y, Chong SY, Fu Y-H. Common polymorphisms for the time of living and death? Ann Neurol. 2012 72(3):303-4.
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