Title : Histone acetylation deficits in lymphoblastoid cell lines from Rubinstein-Taybi syndrome patients

Affiliations: 1 Instituto de Neurociencias (Universidad Miguel Hernandez-Consejo Superior de Investigaciones Científicas), San Juan de Alicante, 03550 Alicante, Spain; 2 Medical Genetics, Department of Medicine, Surgery and Dentistry, University of Milan, Milan, Italy; Dipartimento Materno Infantile, Università di Palermo,Palermo, Italy; 4 UO Genetica Medica, AO ‘Gaetano Rummo’, Benevento, Italy; 5 Ambulatorio Genetica Clinica Pediatrica, Clinica Pediatrica Università Milano Bicocca, Fondazione MBBM AOS Gerardo Monza, Italy.

[1]  L. M. Valor,et al.  Ablation of CBP in Forebrain Principal Neurons Causes Modest Memory and Transcriptional Defects and a Dramatic Reduction of Histone Acetylation But Does Not Affect Cell Viability , 2011, The Journal of Neuroscience.

[2]  M. Szybowska,et al.  A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features , 2010, American journal of medical genetics. Part A.

[3]  T. Haaf,et al.  Inheritance and variable expression in Rubinstein–Taybi syndrome , 2010, American journal of medical genetics. Part A.

[4]  P. Sassone-Corsi,et al.  Joining the dots: from chromatin remodeling to neuronal plasticity , 2010, Current Opinion in Neurobiology.

[5]  S. Balcı,et al.  Rubinstein–Taybi syndrome in first cousins with different de novo mutations , 2010, American journal of medical genetics. Part A.

[6]  A. Barco,et al.  Syndromic features and mild cognitive impairment in mice with genetic reduction on p300 activity: Differential contribution of p300 and CBP to Rubinstein–Taybi syndrome etiology , 2010, Neurobiology of Disease.

[7]  A. Barco,et al.  Selective Boosting of Transcriptional and Behavioral Responses to Drugs of Abuse by Histone Deacetylase Inhibition , 2009, Neuropsychopharmacology.

[8]  S. Lynch,et al.  Further case of Rubinstein–Taybi syndrome due to a deletion in EP300 , 2009, American journal of medical genetics. Part A.

[9]  L. Thompson,et al.  Therapeutic application of histone deacetylase inhibitors for central nervous system disorders , 2008, Nature Reviews Drug Discovery.

[10]  Joel M Stein,et al.  Histone Deacetylase Inhibitors Enhance Memory and Synaptic Plasticity via CREB: CBP-Dependent Transcriptional Activation , 2007, The Journal of Neuroscience.

[11]  A. Barco.  The Rubinstein–Taybi syndrome: modeling mental impairment in the mouse , 2007, Genes, brain, and behavior.

[12]  G. Neri,et al.  Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients , 2006, BMC Medical Genetics.

[13]  R. Hennekam,et al.  Rubinstein–Taybi syndrome , 2005, European Journal of Human Genetics.

[14]  C. Kerr,et al.  Pluripotent stem cells from germ cells. , 2006, Methods in enzymology.

[15]  E. Seemanová,et al.  DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS , 2005, Human Genetics.

[16]  Johan T den Dunnen,et al.  Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. , 2005, American journal of human genetics.

[17]  渋沢 信行,et al.  1. インスリンによる肝の糖新生の抑制はCREB-binding protein(CBP)のリン酸化を介しておこなわれる.(第8回群馬遺伝子導入研究会) , 2004 .

[18]  D. Lacombe,et al.  Analysis of CBP (CREBBP) gene deletions in Rubinstein‐Taybi syndrome patients using real‐time quantitative PCR , 2004, Human mutation.

[19]  R. Hennekam,et al.  Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. , 2003, Human molecular genetics.

[20]  E. Seemanová,et al.  Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP , 2002, Journal of medical genetics.

[21]  C. Cruaud,et al.  Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome , 2002, Journal of medical genetics.

[22]  C. Glass,et al.  Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. , 2001, Human molecular genetics.

[23]  R. Hennekam,et al.  Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations , 2000, Journal of medical genetics.

[24]  Antonio Giordano,et al.  p300 and CBP: Partners for life and death , 1999, Journal of cellular physiology.

[25]  M. Masuno,et al.  Pilomatrixomas in Rubinstein-Taybi syndrome. , 1998, American journal of medical genetics.

[26]  Raoul C. M. Hennekam,et al.  Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP , 1995, Nature.

[27]  R. W. Miller,et al.  Tumors in Rubinstein-Taybi syndrome. , 1995, American journal of medical genetics.

[28]  M. Masuno,et al.  Chromosome aberrations in Rubinstein‐Taybi syndrome , 1993, Clinical genetics.

[29]  R. Hennekam,et al.  Psychological and speech studies in Rubinstein-Taybi syndrome. , 1992, American journal of mental retardation : AJMR.

[30]  A. Berry,et al.  Rubinstein-Taybi syndrome. , 1987, Journal of medical genetics.

[31]  E. Philip,et al.  Rubinstein-Taybi syndrome. , 1967, Indian pediatrics.

[32]  J H RUBINSTEIN,et al.  Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. , 1963, American journal of diseases of children.