FRAXA Grant to John Larson, PhD — University of Illinois Chicago

FRAXA Grant to John Larson, PhD — University of Illinois Chicago

FRAXA Awards: $40,000 in 2000 Synaptic Plasticity and Olfactory Learning in Fragile X: Regulation of Group I Metabotropic Glutamate Receptor Trafficking in a Fragile X Animal Model by Michael Tranfaglia, FRAXA, 4/1/2007 Abnormalities of metabotropic glutamate pathways in the fragile X brain have been demonstrated in many ways by many research groups, and these appear to be the cause of many or most of the symptoms of fragile X. However, this research group is the only one to date to study the important question of how mGluRs move around in fragile X neurons, compared to normal. As in so many biological processes, metabotropic glutamate receptor function is not fixed and static; rather, these receptors move around in the cell membrane, from one part of the synapse to another, and they move in and out of the cell surface membrane. All of these movements are controlled and tightly regulated, and there

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FRAXA Grant to Jean-Louis Mandel, PhD — Strasbourg

FRAXA Grant to Jean-Louis Mandel, PhD — Strasbourg

with Barbara Bardoni, PhD, FRAXA Postdoctoral Fellow (2000) FRAXA Awards: $30,000 in 2000 Search for FMRP (Fragile X Protein) Cellular Function Through the Characterization of Two Novel FMRP Interacting Proteins by Barbara Bardoni, 1/1/2000 We have searched for new proteins that interact with the fragile X protein FMRP using a technique called the two-hybrid assay in yeast. After screening a mouse embryonic (E9.5-EE12.5) library, we found two novel proteins that we are currently characterizing: NUFIP1 (Nuclear FMRP Interacting Protein) and CYFIP (Cytoplasmic FMRP Interacting Protein). Understanding the functions of these new proteins is an essential step in the definition of the molecular and developmental mechanisms by which the absence of FMR1 expression causes fragile X syndrome.

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Randi Hagerman, MD – University of CA at Davis

Randi Hagerman, MD – University of CA at Davis

with Karen Riley, PhD, Postdoctoral Fellow FRAXA Awarded $30,000 in 1998 and $30,000 in 1999 Melatonin clinical trial in Fragile X Dr. Hagerman and colleagues have published results of their studies of melatonin: J Clin Sleep Med. 2009 Apr 15;5(2):145-50. The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or autism and fragile X syndrome and Am J Med Genet. 2000 Dec 11;95(4):307-15. Melatonin profiles and sleep characteristics in boys with fragile X syndrome: a preliminary study Project Plan by Karen Riley, 7/1/1998 There are few controlled studies of treatment of children and adults with fragile X syndrome. The FRAXA postdoctoral fellowship offers a unique opportunity to improve this situation. Dr. Karen Riley will act as a facilitator for collaborative research efforts with Drs. Loesch and Martin in Australia and with other centers in the US to improve and enhance treatment options for individuals and

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FRAXA Grant to Menahem Segal, PhD — Weizmann Institute

FRAXA Grant to Menahem Segal, PhD — Weizmann Institute

with Katarina Braun, PhD, Co-Principal Investigator (Leibnitz Institute for Learning, Germany)   FRAXA Awards: $80,000 in 2000 $80,000 in 1999   The Role of the Fragile X Mental Retardation Protein in the Development and Functional Maturation of Spine Synapses in Vitro by Menahem Segal, 1/1/1999 A stunning observation made decades ago is that major deficits in the ability to acquire and store information, as is the case of mental retardation, is associated with minimal, if any, change in the structure of the brain. While scientists are still puzzled by the lack of apparent difference between the brain of a genius and that of a mentally retarded person, exciting information which can explain how an organism becomes mentally retarded begins to emerge. It focuses on the dendritic spine, that part of a nerve cell which is the locus of synaptic interaction, neuronal plasticity and long term memory. The recent advent in

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Paul Hagerman – University of CA at Davis

Paul Hagerman – University of CA at Davis

FRAXA Awards: $30,000 in 1999 Drs. Paul and Randi Hagerman received FRAXA funding while they were at University of Colorado, Denver. They have since moved to the MIND Institute at UC Davis. FMR1 Gene Regulation by Flora Tassone, 1/1/1999 Fragile X syndrome is usually caused by a large expansion of a CGG trinucleotide repeat in the FMR1 gene. Full mutations (greater than 200 repeats) are generally associated with methylation of CG-rich “islands” upstream of the gene. This expansion and subsequent methylation reduces or “silences” (turns off) transcription of the FMR1 gene so that it produces too little or none of its normal protein product (FMRP). Studies with other human genes have provided evidence that methylation itself may not cause silencing of these genes. Rather, the methyl groups appear to act as signals for the modification of associated chromosomal proteins (histones) to a form that prevents transcription of these genes. Genes

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FRAXA Award to Charles Laird, PhD —Fred Hutchinson Cancer Research Center

FRAXA Award to Charles Laird, PhD —Fred Hutchinson Cancer Research Center

Diagnosing the Methylation Status of the FMR1 Promoter Region in small numbers of Cells Reinhard Stoger, PhD, Postdoctoral Fellow FRAXA Awards: $25,000 in 1996 In Fragile X syndrome, the FMR1 gene does not produce its protein because the promoter region of the gene is methylated.  A potential therapeutic approach in treating individuals with this syndrome is reactivation of the endogenous gene by the use of demethylating pharmaceuticals”. Methylation Studies of the Fragile X Protein by Dr. Stoger, 7/1/1997 I have examined methylation sites of the FMR1 gene in great detain. Each of these sites has a different probability of becoming methylated. Those sites that are less frequently methylated than average are of particular interest to me, because they point to regions of the FMR1 Gene where removal of methyl groups may be initiated. My goal is to attempt to reactivate the methylated FMR1 gene and find a way to remove

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