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| Recent Rett Publications |
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Elevated IKKα Accelerates the Differentiation of Human Neuronal Progenitor Cells and Induces MeCP2-Dependent BDNF Expression
Khoshnan A, Patterson PH
Abstract MeCP2 Is Critical for Maintaining Mature Neuronal Networks and Global Brain Anatomy during Late Stages of Postnatal Brain Development and in the Mature Adult Brain. Nguyen MV, Du F, Felice CA, Shan X, Nigam A, Mandel G, Robinson JK, Ballas N Abstract Article The Impact of MeCP2 Loss- or Gain-of-Function on Synaptic Plasticity. Na ES, Nelson ED, Kavalali ET, Monteggia LM. Abstract What We Know and Would Like to Know about CDKL5 and Its Involvement in Epileptic Encephalopathy. Kilstrup-Nielsen C, Rusconi L, La Montanara P, Ciceri D, Bergo A, Bedogni F, Landsberger N Abstract Article Oxidative Burden And Mitochondrial Dysfunction In A Mouse Model Of Rett Syndrome. Großer E, Hirt U, Janc OA, Menzfeld C, Fischer M, Kempkes B, Vogelgesang S, Manzke TU, Opitz L, Salinas-Riester G, Müller M Abstract Article Gene therapy and neurodevelopmental disorders. Gray SJ. Abstract Article Does microglial dysfunction play a role in autism and Rett syndrome? Maezawa I, Calafiore M, Wulff H, Jin LW. Abstract Article The role of oxidative stress in Rett syndrome: an overview. De Felice C, Signorini C, Leoncini S, Pecorelli A, Durand T, Valacchi G, Ciccoli L, Hayek J. Abstract Article From the bench to bedside: Secondary spinal cord injury, ischemic penumbra after stroke, neural regulation of appetite, microglia in Rett syndrome, signaling pathways in peripheral nerve regeneration. Fong BM, Hauptman JS. Article Oxidative Burden And Mitochondrial Dysfunction In A Mouse Model Of Rett Syndrome Großer E, Hirt U, Janc OA, Menzfeld C, Fischer M, Kempkes B, Vogelgesang S, Manzke TU, Opitz L, Salinas-Riester G, Müller M Abstract Article Microglia as modulators of cognition and neuropsychiatric disorders. Blank T, Prinz M. Abstract Article Rett Syndrome. Smeets EE, Pelc K, Dan B. Abstract Article Rett syndrome: basic features of visual processing-a pilot study of eye-tracking. Djukic A, Valicenti McDermott M, Mavrommatis K, Martins CL. Abstract Article Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows. Cheval H, Guy J, Merusi C, De Sousa D, Selfridge J, Bird A. Abstract Article Phosphorylation of Distinct Sites in MeCP2 Modifies Cofactor Associations and the Dynamics of Transcriptional Regulation. Gonzales ML, Adams S, Dunaway KW, Lasalle JM. Abstract Article Recent Publications related to Rett syndrome found on PubMed Peripheral administration of brain-derived neurotrophic factor to Rett syndrome animal model: A possible approach for the treatment of Rett syndrome. Tsai SJ Abstract Nuclear Calcium Signaling controls Methyl-CpG-binding Protein 2 (MeCP2) Phosphorylation on Serine 421 following Synaptic Activity. Buchthal B, Lau D, Weiss U, Weislogel JM, Bading H. Abstract Article Insights into the Cellular and Molecular Contributions of MeCP2 Overexpression to Disease Pathophysiology. Taylor MM, Doshi S. Abstract Knock-down of methyl CpG-binding protein 2 (MeCP2) causes alterations in cell proliferation and nuclear lamins expression in mammalian cells. Babbio F, Castiglioni I, Cassina C, Gariboldi MB, Pistore C, Magnani E, Badaracco G, Monti E, Bonapace IM. Abstract Article Clinical characteristics of children with rett syndrome. Han ZA, Jeon HR, Kim SW, Park JY, Chung HJ. Abstract Article The neuropathological consequences of CDKL5 mutation. Paine SM, Munot P, Carmichael J, Das K, Weber MA, Prabhakar P, Jacques TS. Abstract The role of oxidative stress in Rett syndrome: an overview. De Felice C, Signorini C, Leoncini S, Pecorelli A, Durand T, Valacchi G, Ciccoli L, Hayek J. Abstract Article From the bench to bedside: Secondary spinal cord injury, ischemic penumbra after stroke, neural regulation of appetite, microglia in Rett syndrome, signaling pathways in peripheral nerve regeneration. Fong BM, Hauptman JS. Article Microglia as modulators of cognition and neuropsychiatric disorders. Blank T, Prinz M. Abstract Article 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. Allou L, Lambert L, Amsallem D, Bieth E, Edery P, Destrée A, Rivier F, Amor D, Thompson E, Nicholl J, Harbord M, Nemos C, Saunier A, Moustaïne A, Vigouroux A, Jonveaux P, Philippe C. Abstract Article Modeling neurodevelopmental disorders using human neurons. Chailangkarn T, Acab A, Muotri AR. Abstract Article Hand stereotypies distinguish Rett syndrome from autism disorder. Goldman S, Temudo T. Abstract Article Neonatal exposure to low dose corticosterone persistently modulates hippocampal mineralocorticoid receptor expression and improves locomotor/exploratory behaviour in a mouse model of Rett syndrome. De Filippis B, Ricceri L, Fuso A, Laviola G. Abstract Article Methyl CpG Binding Protein-2 in Intractable Temporal Lobe Epilepsy Patients and a Rat Model. Tao S, Yang X, Chen Y, Wang X, Xiao Z, Wang H, Wu Q, Wang X. Abstract Article Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome. Marschik PB, Kaufmann WE, Einspieler C, Bartl-Pokorny KD, Wolin T, Pini G, Budimirovic DB, Zappella M, Sigafoos J. Abstract Article Peculiarities in the gesturalrepertoire: An early marker for Rett syndrome? Marschik PB, Sigafoos J, Kaufmann WE, Wolin T, Talisa VB, Bartl-Pokorny KD, Budimirovic DB, Vollmann R, Einspieler C. Abstract Article Recurrent mutations in the CDKL5 gene: Genotype-phenotype relationships. Bahi-Buisson N, Villeneuve N, Caietta E, Jacquette A, Maurey H, Matthijs G, Van Esch H, Delahaye A, Moncla A, Milh M, Zufferey F, Diebold B, Bienvenu T. Abstract Article Adult Phenotypes in Angelman- and Rett-Like Syndromes. Willemsen MH, Rensen JH, van Schrojenstein-Lantman de Valk HM, Hamel BC, Kleefstra T. Abstract Article SIRT1-mediated deacetylation of MeCP2 contributes to BDNF expression. Zocchi L, Sassone-Corsi P. Abstract Article The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome. Zweier M, Rauch A. Abstract Article FOXG1-Related Disorders: From Clinical Description to Molecular Genetics. Florian C, Bahi-Buisson N, Bienvenu T. Abstract Article Incontinence in Individuals with Rett Syndrome: A Comparative Study. Giesbers S, Didden R, Radstaake M, Korzilius H, von Gontard A, Lang R, Smeets E, Curfs LM. Abstract Article Investigation of modifier genes within copy number variations in Rett syndrome. Artuso R, Papa FT, Grillo E, Mucciolo M, Yasui DH, Dunaway KW, Disciglio V, Mencarelli MA, Pollazzon M, Zappella M, Hayek G, Mari F, Renieri A, Lasalle JM, Ariani F. Abstract Article Treating hypoxia in a feeble breather with Rett syndrome. Julu PO, Witt Engerström I, Hansen S, Apartopoulos F, Engerström B. Abstract Article Clinical variability in early speech-language development in females with Rett syndrome. Budden S. Abstract Article Versatile toolbox for high throughput biochemical and functional studies with fluorescent fusion proteins. Pichler G, Jack A, Wolf P, Hake SB. Abstract Article Rett syndrome: genes, synapses, circuits, and therapeutics. Banerjee A, Castro J, Sur M. Abstract Article A case of diabetes mellitus associated with Rett syndrome. Akin L, Adal E, Akin MA, Kurtoglu S. Abstract Novel double deletions in the MECP2 gene in Tunisian Rett patient. Fendri-Kriaa N, Rouissi A, Ghorbel R, Mkaouar-Rebai E, Belguith N, Gouider-Khouja N, Fakhfakh F. Abstract Article Astrocytes and disease: a neurodevelopmental perspective. Molofsky AV, Krenick R, Ullian E, Tsai HH, Deneen B, Richardson WD, Barres BA, Rowitch DH. Abstract Article Alterations of gene expression and glutamate clearance in astrocytes derived from an MeCP2-null mouse model of Rett syndrome. Okabe Y, Takahashi T, Mitsumasu C, Kosai K, Tanaka E, Matsuishi T. Abstract Article Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis. Todorov T, Todorova A, Motoescu C, Dimova P, Iancu D, Craiu D, Stoian D, Barbarii L, Bojinova V, Mitev V. Abstract Article Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome. Robinson L, Guy J, McKay L, Brockett E, Spike RC, Selfridge J, De Sousa D, Merusi C, Riedel G, Bird A, Cobb SR. Abstract Article Daily rhythmic behaviors and thermoregulatory patterns are disrupted in adult female MeCP2-deficient mice. Wither RG, Colic S, Wu C, Bardakjian BL, Zhang L, Eubanks JH. Abstract Article Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation. Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA. Abstract Article Apneic crises: A clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. Falsaperla R, Pavone L, Fichera M, Striano P, Pavone P. Abstract Article 
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Research Overview |