Bibliography

Researchers funded by RSRF have been extraordinarily successful in publishing their studies in prestigious scientific journals. These publications have increased the awareness of Rett Syndrome in scientific circles.

Below is a partial list of articles that have resulted from RSRF-funded research.

 

Chang Q, Khare G, Dani V, Nelson S, Jaenisch R.
The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression.
Neuron. 2006 Feb 2;49(3):341-8.

Jean-Charles Viemari, Jean-Christophe Roux, Andrew K. Tryba, Véronique Saywell, Henri Burnet, Fernando Peña, Sébastien Zanella, Michelle Bévengut, Magali Barthelemy-Requin, Laura B. K. Herzing, Anne Moncla, Josette Mancini, Jan-Marino Ramirez, Laurent Villard, and Gérard Hilaire

Mecp2 Deficiency Disrupts Norepinephrine and Respiratory Systems in Mice

The Journal of Neuroscience, December 14, 2005, 25(50):11521-11530

Paterson DS, Thompson EG, Belliveau RA, Antalffy BA, Trachtenberg FL, Armstrong DD, Kinney HC.

Serotonin Transporter Abnormality in the Dorsal Motor Nucleus of the Vagus in Rett Syndrome: Potential Implications for Clinical Autonomic Dysfunction.

J Neuropathol Exp Neurol. 2005 Nov;64(11):1018-1027.

Young JI, Hong EP, Castle JC, Crespo-Barreto J, Bowman AB, Rose MF, Kang D, Richman R, Johnson JM, Berget S, Zoghbi HY.

Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

Proc Natl Acad Sci U S A. 2005 Oct 26; [Epub ahead of print]

Robert J. Klose, Shireen A. Sarraf, Lars Schmiedeberg, Suzanne M. McDermott, Irina Stancheva, and Adrian P. Bird

DNA Binding Selectivity of MeCP2 Due to a Requirement for A/T Sequences Adjacent to Methyl-CpG

Molecular Cell. 2005 Sept. 2 Volume 19 Issue 5

Abuhatzira L, Makedonski K, Galil YP, Gak E, Zeev BB, Razin A, Shemer R.

Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis.

Hum Genet. 2005 Aug 17;:1-8 [Epub ahead of print]

Asaka Y, Jugloff DG, Zhang L, Eubanks JH, Fitzsimonds RM.
Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome.
Neurobiol Dis. 2005 Aug 5; [Epub ahead of print]

Dani VS, Chang Q, Maffei A, Turrigiano GG, Jaenisch R, Nelson SB.
Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett Syndrome.
Proc Natl Acad Sci U S A. 2005 Aug 22; [Epub ahead of print]

Charman T, Neilson TC, Mash V, Archer H, Gardiner MT, Knudsen GP, McDonnell A, Perry J, Whatley SD, Bunyan DJ, Ravn K, Mount RH, Hastings RP, Hulten M, Orstavik KH, Reilly S, Cass H, Clarke A, Kerr AM, Bailey ME.
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.
Eur J Hum Genet. 2005 Aug 3; [Epub ahead of print]

Jian L, Archer HL, Ravine D, Kerr A, de Klerk N, Christodoulou J, Bailey ME, Laurvick C, Leonard H.
p.R270X MECP2 mutation and mortality in Rett syndrome.
Eur J Hum Genet. 2005 Aug 3; [Epub ahead of print]

Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gecz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ.
Early onset seizures and Rett-like features associated with mutations in CDKL5.
Eur J Hum Genet. 2005 Jul 13; [Epub ahead of print]

Nuber UA, Kriaucionis S, Roloff TC, Guy J, Selfridge J, Steinhoff C, Schulz R, Lipkowitz B, Ropers HH, Holmes MC, Bird A.
Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome.

Hum Mol Genet. 2005 Aug 1;14(15):2247-56. Epub 2005 Jul 7.

Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N.
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
Hum Mol Genet. 2005 Jul 15;14(14):1935-46. Epub 2005 May 25.

Zlatanova J.

MeCP2: the chromatin connection and beyond.

Biochem Cell Biol. 2005 Jun;83(3):251-62.

Thatcher KN, Peddada S., Yasui DH., LaSalle JM

Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples

Hum Mol Genet. 2005 14:785-797

Samaco RC, Hogart A, Lasalle JM.
Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.

Hum Mol Genet. 2004 Dec 22; [Epub ahead of print]  

Horike SI, Cai S, Miyano M, Cheng JF, Kohwi-Shigematsu T.

Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome

Nat Genet. 2004 Dec 19; [Epub ahead of print]

Kishi N, Macklis J.

MECP2 is Progressively Expressed in Post-migratory Neurons and is Involved in Neuronal Maturation Rather then Cell Fate Decisions. Mol. Cell Neuroscience 27 (2004) 306-321

Jianhong L, Guo Y, Schroeder FA, Youngs RM, Schmidt TW, Ferris C, Konradi C, Akbarian S

Dopamine D2-like antagonists induce chromatin remodeling in striatal neurons through cyclic AMP-protein kinase A and NMDA receptor signaling

J. Neurochemistry (2004) 90, 1117-1131

Mehta AD, Jung JC, Flusberg BA, Schnitzer MJ.

Fiber optic in vivo imaging in the mammalian nervous system.

Curr Opin Neurobiol. 2004 Oct;14(5):617-28

Jung JC, Mehta AD, Aksay E, Stepnoski R, Schnitzer MJ.

In Vivo Mammalian Brain Imaging Using One- and Two-Photon Fluorescence Microendoscopy.

Neurophysiol. 2004 Nov;92(5):3121-3133. Epub 2004 May 5.

Cowley SM, Kang RS, Frangioni JV, Yada JJ, DeGrand AM, Radhakrishnan I, Eisenman RN.

Functional analysis of the Mad1-mSin3A repressor-corepressor interaction reveals determinants of specificity, affinity, and transcriptional response.
Mol Cell Biol. 2004 Apr;24(7):2698-709
http://mcb.asm.org

Braunschweig D, Simcox T, Samaco RC, LaSalle JM
X-chromosome inactivation ratios affect wild-type MeCP2 expresssion within mosaic Rett syndrome and Mecp2 -/+ mouse brain.
Hum Mol Genet. 2004 Jun 15;13(12):1275-86. Epub 2004 Apr 28.

Luikenhuis S , Giacometti E, Beard CF, Jaenisch R
Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice
Proc Natl Acad Sci U S A. 2004 Apr 20;101(16):6033-8. Epub 2004 Apr 06.

Young JI, Zoghbi HY
X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome.
Am J Hum Genet. 2004 Mar;74(3):511-20. Epub 2004 Feb 17.

Samaco RC, Nagarajan RP, Braunschweig D, LaSalle JM
Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders.
Hum Mol Genet. 2004 Mar 15;13(6):629-39. Epub 2004 Jan 20.

Chen WG, Chang Q, Lin Y, Meissner A, West AE, Griffith EC, Jaenisch R, Greenberg ME.
Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2.
Science. 2003 Oct 31;302(5646):885-9.

O'Neill, L.P., Randall, T.E., Lavender, J., Spotswood, H.T., Lee, J.T. and Turner, B.M. (2003)
X-linked genes in female embryonic stem cells carry an epigenetic mark prior to the onset of X inactivation.
Hum.Mol.Genet. 12, 1783-1790

Balmer D, Goldstine J, Rao YM, LaSalle JM.
Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative plyadenylation.
J Mol Med 2003 Jan;81(1):61-8

Tudor M,AkbarianS, Chen RZ, Jaenisch R.
Transcriptional profiling of a mouse model for Rett syndrome revelas subtle transcriptional changes in the brain.
Proc Natl Acad Sci U S A. 2002 Nov 26;99(24):15536-41. Epub 2002 Nov 13.

Balmer D, Arredondo J, Samaco RC, and LaSalle JM. 2002.
MECP2 mutations in Rett syndrome adversely affect lymphocyte growth but do not affect imprinted gene expression in blood or brain.
Hum Genet. 2002 Jun;110(6):545-52. Epub 2002 Apr 25.

Akbarian S, Chen RZ, Gribnau J, Rasmussen TP, Fong Hf, Jaenisch R, Jones EG
Expression pattern of the rett syndrome gene MECP2 in primate prefrontal cortex.
Neurobiol Dis 2001 Oct; 8 (5) : 784-91

Chen R., Akbarian S., Tudor M., Jaensich R.
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice.
Nat Genet. 2001 Mar;27(3):327-31.

LaSalle, JM, Goldstine J, Balmer D, Greco CM
Quantitative localization of heterologous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett Syndrome brain by laser scanning cytometry.
Human Molecular Genetics, 2001. Vol. 10, No. 17

Wade P.A.
Transcriptional control at regulatory checkpoints by histone deacetylases: molecular connections between cancer and chromatin
Human Molecular Genetics, 2001, Vol. 10, No. 7

Wade P. A.
Methyl CpG binding proteins: coupling chromatin architecture to gene regulation
Oncogene (2001) 20, 3166-3173

Wade P.A., Wolffe A.P.
Recognizing methylated DNA
Nature Structural Biology, Vol. 8, Number 7, July 2001

Wade P.A.
Methyl CpG-binding proteins and transcriptional repression.
Bioessays. 2001 Dec;23(12):1131-1137

Chadwick B.P, Valley C.M., Willard H.F.
Histone variant macroH2A contains two distinct macrochromatin domains capable of directing macroH2A to the inactive X chromosome
Nucleic Acids Research, 2001, Vol. 29, No. 13, 2699-2705

Chadwick B.P., Willard H.F.
Histone H2A variants and the inactive X chromosome: identification of a second macroH2A variant
Human Molecular Genetics, 2001, Vol. 10, No. 10 1101-1113

Chadwick BP, Willard HF.
Cell cycleÐdependent localization of macroH2A in chromatin of the inactive X chromosome.
J. Cell Biol. 2002 June 24;157(7):1113-1123.

Schubeler, D., Lorincz, M.C., and Groudine, M. (2001).
Targeting silence - the use of site-specific Recombination to introduce in Vitro Methylated DNA into the Genome, Sciences STKE.
stke.sciencemag.org.

Schubeler, D., Lorincz, M.C., Cimbora,, D.M., Telling, A., Feng, Y.,Bouhassira E. and Groudine, M. (2000)
Genomic targeting of methylated DNA: the influence of methylation on transcription, replication, chromatin structure and histone acetylation.
Mol Cell Biol. 20, 9103-12

Schubeler D, Groudine M, Bender MA.
The murine beta -globin locus control region regulates the rate of transcription but not the hyperacetylation of histones at the active genes.
Proc Natl Acad Sci U S A 2001 Sep 25;98(20):11432-7

Lorincz MC, SchYbeler D, Groudine, M.
Methylation-Mediated Proviral Silencing Is Associated with MeCP2 Recruitment and Localized Histone H3 Deacetylation.
Mol Cell Biol 2001 Dec;21(23) :7913-22

Lorincz, M.C., Schubeler, D., Hutchinson, S.R., Dickerson, D.R., and Groudine, M. (2002).
DNA Methylation Density Influences the Stability of an Epigenetic Imprint and Dnmt3a/b-Independent De Novo Methylation.
Mol Cell Biol 22, 7572-7580.

Schubeler, D., Scalzo, D., Kooperberg, C., Van Steensel, B., Delrow, J., and Groudine, M. (2002).
Genome-wide DNA replication profile for Drosophila melanogaster: a link between transcription and replication timing.
Nat Genet 32, 438-442.

Bulger M, Sawado T, Schubeler D, Groudine M. (2002)
ChIPs of the beta-globin locus: unraveling gene regulation within an active domain.
Current Opinion in Genetics and Development 12,170-7

Zeitlin S.G., Monier K., Sullivan K.F. (2001)
Phospho-histone antibody immunofluorescence for analysis of cell cycle progression in G2 and prophase.
Chemtracts Biochemistry and Molecular Biology, 14:557-562

Brasic JR, Furman JW, Conte RM, Baisley WE, Jaslow RI:
Psychoactive Medication Quality Assurance Rating Survey (PQRS) Screening Criteria.
Journal of Developmental and Physical Disabilities 2003;15(3):231-253.

Brasic JR, Furman JW, Conte RM, Baisley WE, Jaslow RI.
Assessing the quality of the administration of psychoactive medication.
Journal of Developmental and Physical Disabilities. 2003;15(3):185-205

Brasic JR: Treatment of movement disorders in autism spectrum disorders.
In: Hollander E (Editor): Autism Spectrum Disorders Volume 24 of the Medical Psychiatry Series.
ISBN 0-8247-0715-X Marcel Dekker, Inc., New York (http://www.dekker.com), 2003, Pages 273-346

Wong DF, Potter WZ, Brasic JR.
Proof of concept: functional models for drug development in humans.
In: Davis KL, Charney D, Coyle JT, Nemeroff C (editors).
Neuropsychopharmacology: The Fifth Generation of Progress The American College of Neuropsychopharmacology and Lippincott Williams & Wilkins, Baltimore 2002: 457-473

Yun Zhou, Christopher J. Endres, James Robert Brasic, Sung-Cheng Huang, Dean F. Wong
Linear Regression with Spatial Constraint to Generate Parametric Images of Ligand-receptor Dynamic PET Studies with a Simplified Reference Tissue Model
NeuroImage 18(2003) 975-989

Philippe T. Georgel, Rachel A. Horowitz-Scherer, Nick Adkins, Christopher L. Woodcock, Paul A. Wade, and Jeffrey C. Hansen
Chromatin compaction by human MeCP2: Assembly of novel secondary chromatin structures in the absence of DNA methylation
J. Biol. Chem, 10.1074/jbc.M305308200

Cass H, Reilly S, Owen L, Wisbeach A, Weekes L, Slonims V, Wigram T, Charman T.
Findings from a multidisciplinary clinical case series of females with Rett syndrome.
Dev Med Child Neurol 2003 May;45(5):325-37

Akbarian S.
The neurobiology of Rett syndrome.
Neuroscientist. 2003 Feb;9(1):57-63. Review.

Tomoki Yokochi and Keith D. Robertson
DMB (DNMT magnetic beads) Assay
Methods in Molecular Biology, in press.

Kantor, B., Makedonski, K., Shemer, R., Razin., A.
Expression and localization of components of the histone deacetylases multiprotein repressory complexes in the mouse preimplantation embryo
Mech. Dev., 2003, in press

Harp. J.M., Hanson. B.L., Bunick G.J. (2003)
The Structure of the Nucleosome Core Particle.
In Zlatanova J. and Leuba S. (eds) Chromatin Structure an Dynamics: State-of-the-art. in press

Devarakonda S., Harp J.M., Kim Y., Ozyhar A., Rastinejad F., (2003)
Structure of the Heterodimeric Ecdysone Receptor-DNA Binding Complex.
EMBO Journal. in press

Mi LZ, Devarakonda S, Harp JM, Han Q, Pellicciari R, Willson TM, Khorasanizadeh S, Rastinejad F.
Structural basis for bile acid binding and activation of the nuclear receptor FXR.
Mol Cell. 2003 Apr;11(4):1093-100.

Hanson BL, Bunick GJ, Harp JM, Edmundson AB.
Mcg in 2030: new techniques for atomic position determination of immune complexes.
J Mol Recognit. 2002 Sep-Oct;15(5):297-305. Review.

Jacobs SA, Harp JM, Devarakonda S, Kim Y, Rastinejad F, Khorasanizadeh S.
The active site of the SET domain is constructed on a knot.
Nat Struct Biol. 2002 Nov;9(11):833-8. Erratum in: Nat Struct Biol. 2003 Jun;10(7):578.

Hanson BL, Harp JM, Kirschbaum K, Schall CA, DeWitt K, Howard A, Pinkerton AA, Bunick GJ.
Experiments testing the abatement of radiation damage in D-xylose isomerase crystals with cryogenic helium.
J Synchrotron Radiat. 2002 Nov 1;9(Pt 6):375-81.