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Showing 1 to 12 of 130 entries
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Progress toward therapeutic potential for AFQ056 in Fragile X syndrome.

Journal of experimental pharmacology

Sourial M, Cheng C, Doering LC.
PMID: 27186135
J Exp Pharmacol. 2013 Jul 16;5:45-54. doi: 10.2147/JEP.S27044. eCollection 2013.

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the leading single-gene cause of autism. It is caused by the lack of production of the Fragile X mental retardation protein (FMRP), resulting in cognitive...

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Sourial M, Cheng C, Doering LC. Progress toward therapeutic potential for AFQ056 in Fragile X syndrome. J Exp Pharmacol. 2013;5:45-54doi: 10.2147/JEP.S27044.
Sourial, M., Cheng, C., & Doering, L. C. (2013). Progress toward therapeutic potential for AFQ056 in Fragile X syndrome. Journal of experimental pharmacology, 545-54. https://doi.org/10.2147/JEP.S27044
Sourial, Mary, et al. "Progress toward therapeutic potential for AFQ056 in Fragile X syndrome." Journal of experimental pharmacology vol. 5 (2013): 45-54. doi: https://doi.org/10.2147/JEP.S27044
Sourial M, Cheng C, Doering LC. Progress toward therapeutic potential for AFQ056 in Fragile X syndrome. J Exp Pharmacol. 2013 Jul 16;5:45-54. doi: 10.2147/JEP.S27044. eCollection 2013. PMID: 27186135; PMCID: PMC4863540.
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Is metabotropic glutamate receptor 5 upregulated in prefrontal cortex in fragile X syndrome?.

Molecular autism

Lohith TG, Osterweil EK, Fujita M, Jenko KJ, Bear MF, Innis RB.
PMID: 23706040
Mol Autism. 2013 May 24;4(1):15. doi: 10.1186/2040-2392-4-15.

BACKGROUND: Fragile X syndrome (FXS) is a common inherited form of intellectual disability caused by loss of function of the fragile X mental retardation protein. Recent animal studies suggest that upregulated downstream signaling by metabotropic glutamate receptor 5 (mGluR5)...

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Lohith TG, Osterweil EK, Fujita M, et al. Is metabotropic glutamate receptor 5 upregulated in prefrontal cortex in fragile X syndrome?. Mol Autism. 2013;4(1):15doi: 10.1186/2040-2392-4-15.
Lohith, T. G., Osterweil, E. K., Fujita, M., Jenko, K. J., Bear, M. F., & Innis, R. B. (2013). Is metabotropic glutamate receptor 5 upregulated in prefrontal cortex in fragile X syndrome?. Molecular autism, 4(1), 15. https://doi.org/10.1186/2040-2392-4-15
Lohith, Talakad G, et al. "Is metabotropic glutamate receptor 5 upregulated in prefrontal cortex in fragile X syndrome?." Molecular autism vol. 4,1 (2013): 15. doi: https://doi.org/10.1186/2040-2392-4-15
Lohith TG, Osterweil EK, Fujita M, Jenko KJ, Bear MF, Innis RB. Is metabotropic glutamate receptor 5 upregulated in prefrontal cortex in fragile X syndrome?. Mol Autism. 2013 May 24;4(1):15. doi: 10.1186/2040-2392-4-15. PMID: 23706040; PMCID: PMC3679853.
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Deletion of PTEN produces autism-like behavioral deficits and alterations in synaptic proteins.

Frontiers in molecular neuroscience

Lugo JN, Smith GD, Arbuckle EP, White J, Holley AJ, Floruta CM, Ahmed N, Gomez MC, Okonkwo O.
PMID: 24795561
Front Mol Neurosci. 2014 Apr 16;7:27. doi: 10.3389/fnmol.2014.00027. eCollection 2014.

Many genes have been implicated in the underlying cause of autism but each gene accounts for only a small fraction of those diagnosed with autism. There is increasing evidence that activity-dependent changes in neuronal signaling could act as a...

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Lugo JN, Smith GD, Arbuckle EP, et al. Deletion of PTEN produces autism-like behavioral deficits and alterations in synaptic proteins. Front Mol Neurosci. 2014;7:27doi: 10.3389/fnmol.2014.00027.
Lugo, J. N., Smith, G. D., Arbuckle, E. P., White, J., Holley, A. J., Floruta, C. M., Ahmed, N., Gomez, M. C., & Okonkwo, O. (2014). Deletion of PTEN produces autism-like behavioral deficits and alterations in synaptic proteins. Frontiers in molecular neuroscience, 727. https://doi.org/10.3389/fnmol.2014.00027
Lugo, Joaquin N, et al. "Deletion of PTEN produces autism-like behavioral deficits and alterations in synaptic proteins." Frontiers in molecular neuroscience vol. 7 (2014): 27. doi: https://doi.org/10.3389/fnmol.2014.00027
Lugo JN, Smith GD, Arbuckle EP, White J, Holley AJ, Floruta CM, Ahmed N, Gomez MC, Okonkwo O. Deletion of PTEN produces autism-like behavioral deficits and alterations in synaptic proteins. Front Mol Neurosci. 2014 Apr 16;7:27. doi: 10.3389/fnmol.2014.00027. eCollection 2014. PMID: 24795561; PMCID: PMC3997048.
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Super-Resolution Microscopy Reveals Presynaptic Localization of the ALS/FTD Related Protein FUS in Hippocampal Neurons.

Frontiers in cellular neuroscience

Schoen M, Reichel JM, Demestre M, Putz S, Deshpande D, Proepper C, Liebau S, Schmeisser MJ, Ludolph AC, Michaelis J, Boeckers TM.
PMID: 26834559
Front Cell Neurosci. 2016 Jan 12;9:496. doi: 10.3389/fncel.2015.00496. eCollection 2015.

Fused in Sarcoma (FUS) is a multifunctional RNA-/DNA-binding protein, which is involved in the pathogenesis of the neurodegenerative disorders amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). A common hallmark of these disorders is the abnormal accumulation of mutated...

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Schoen M, Reichel JM, Demestre M, et al. Super-Resolution Microscopy Reveals Presynaptic Localization of the ALS/FTD Related Protein FUS in Hippocampal Neurons. Front Cell Neurosci. 2016;9:496doi: 10.3389/fncel.2015.00496.
Schoen, M., Reichel, J. M., Demestre, M., Putz, S., Deshpande, D., Proepper, C., Liebau, S., Schmeisser, M. J., Ludolph, A. C., Michaelis, J., & Boeckers, T. M. (2015). Super-Resolution Microscopy Reveals Presynaptic Localization of the ALS/FTD Related Protein FUS in Hippocampal Neurons. Frontiers in cellular neuroscience, 9496. https://doi.org/10.3389/fncel.2015.00496
Schoen, Michael, et al. "Super-Resolution Microscopy Reveals Presynaptic Localization of the ALS/FTD Related Protein FUS in Hippocampal Neurons." Frontiers in cellular neuroscience vol. 9 (2015): 496. doi: https://doi.org/10.3389/fncel.2015.00496
Schoen M, Reichel JM, Demestre M, Putz S, Deshpande D, Proepper C, Liebau S, Schmeisser MJ, Ludolph AC, Michaelis J, Boeckers TM. Super-Resolution Microscopy Reveals Presynaptic Localization of the ALS/FTD Related Protein FUS in Hippocampal Neurons. Front Cell Neurosci. 2016 Jan 12;9:496. doi: 10.3389/fncel.2015.00496. eCollection 2015. PMID: 26834559; PMCID: PMC4709451.
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Autism Spectrum Disorders and Drug Addiction: Common Pathways, Common Molecules, Distinct Disorders?.

Frontiers in neuroscience

Rothwell PE.
PMID: 26903789
Front Neurosci. 2016 Feb 05;10:20. doi: 10.3389/fnins.2016.00020. eCollection 2016.

Autism spectrum disorders (ASDs) and drug addiction do not share substantial comorbidity or obvious similarities in etiology or symptomatology. It is thus surprising that a number of recent studies implicate overlapping neural circuits and molecular signaling pathways in both...

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Rothwell PE. Autism Spectrum Disorders and Drug Addiction: Common Pathways, Common Molecules, Distinct Disorders?. Front Neurosci. 2016;10:20doi: 10.3389/fnins.2016.00020.
Rothwell, P. E. (2016). Autism Spectrum Disorders and Drug Addiction: Common Pathways, Common Molecules, Distinct Disorders?. Frontiers in neuroscience, 1020. https://doi.org/10.3389/fnins.2016.00020
Rothwell, Patrick E. "Autism Spectrum Disorders and Drug Addiction: Common Pathways, Common Molecules, Distinct Disorders?." Frontiers in neuroscience vol. 10 (2016): 20. doi: https://doi.org/10.3389/fnins.2016.00020
Rothwell PE. Autism Spectrum Disorders and Drug Addiction: Common Pathways, Common Molecules, Distinct Disorders?. Front Neurosci. 2016 Feb 05;10:20. doi: 10.3389/fnins.2016.00020. eCollection 2016. PMID: 26903789; PMCID: PMC4742554.
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Serotonin dysregulation in Fragile X Syndrome: implications for treatment.

Intractable & rare diseases research

Hanson AC, Hagerman RJ.
PMID: 25606361
Intractable Rare Dis Res. 2014 Nov;3(4):110-7. doi: 10.5582/irdr.2014.01027.

Fragile X Syndrome (FXS) is a trinucleotide repeat disorder that results in the silencing of the Fragile X Mental Retardation 1 gene (FMR1), leading to a lack of the FMR1 protein (FMRP). FMRP is an mRNA-binding protein that regulates...

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Hanson AC, Hagerman RJ. Serotonin dysregulation in Fragile X Syndrome: implications for treatment. Intractable Rare Dis Res. 2014;3(4):110-7doi: 10.5582/irdr.2014.01027.
Hanson, A. C., & Hagerman, R. J. (2014). Serotonin dysregulation in Fragile X Syndrome: implications for treatment. Intractable & rare diseases research, 3(4), 110-7. https://doi.org/10.5582/irdr.2014.01027
Hanson, Alicia C, and Hagerman, Randi J. "Serotonin dysregulation in Fragile X Syndrome: implications for treatment." Intractable & rare diseases research vol. 3,4 (2014): 110-7. doi: https://doi.org/10.5582/irdr.2014.01027
Hanson AC, Hagerman RJ. Serotonin dysregulation in Fragile X Syndrome: implications for treatment. Intractable Rare Dis Res. 2014 Nov;3(4):110-7. doi: 10.5582/irdr.2014.01027. PMID: 25606361; PMCID: PMC4298641.
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Modeling fragile X syndrome in the Fmr1 knockout mouse.

Intractable & rare diseases research

Kazdoba TM, Leach PT, Silverman JL, Crawley JN.
PMID: 25606362
Intractable Rare Dis Res. 2014 Nov;3(4):118-33. doi: 10.5582/irdr.2014.01024.

Fragile X Syndrome (FXS) is a commonly inherited form of intellectual disability and one of the leading genetic causes for autism spectrum disorder. Clinical symptoms of FXS can include impaired cognition, anxiety, hyperactivity, social phobia, and repetitive behaviors. FXS...

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Kazdoba TM, Leach PT, Silverman JL, et al. Modeling fragile X syndrome in the Fmr1 knockout mouse. Intractable Rare Dis Res. 2014;3(4):118-33doi: 10.5582/irdr.2014.01024.
Kazdoba, T. M., Leach, P. T., Silverman, J. L., & Crawley, J. N. (2014). Modeling fragile X syndrome in the Fmr1 knockout mouse. Intractable & rare diseases research, 3(4), 118-33. https://doi.org/10.5582/irdr.2014.01024
Kazdoba, Tatiana M, et al. "Modeling fragile X syndrome in the Fmr1 knockout mouse." Intractable & rare diseases research vol. 3,4 (2014): 118-33. doi: https://doi.org/10.5582/irdr.2014.01024
Kazdoba TM, Leach PT, Silverman JL, Crawley JN. Modeling fragile X syndrome in the Fmr1 knockout mouse. Intractable Rare Dis Res. 2014 Nov;3(4):118-33. doi: 10.5582/irdr.2014.01024. PMID: 25606362; PMCID: PMC4298642.
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Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder.

Frontiers in cellular neuroscience

Guglielmi L, Servettini I, Caramia M, Catacuzzeno L, Franciolini F, D'Adamo MC, Pessia M.
PMID: 25784856
Front Cell Neurosci. 2015 Mar 02;9:34. doi: 10.3389/fncel.2015.00034. eCollection 2015.

Autism spectrum disorders (ASDs) are characterized by impaired ability to properly implement environmental stimuli that are essential to achieve a state of social and cultural exchange. Indeed, the main features of ASD are impairments of interpersonal relationships, verbal and...

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Guglielmi L, Servettini I, Caramia M, et al. Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder. Front Cell Neurosci. 2015;9:34doi: 10.3389/fncel.2015.00034.
Guglielmi, L., Servettini, I., Caramia, M., Catacuzzeno, L., Franciolini, F., D'Adamo, M. C., & Pessia, M. (2015). Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder. Frontiers in cellular neuroscience, 934. https://doi.org/10.3389/fncel.2015.00034
Guglielmi, Luca, et al. "Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder." Frontiers in cellular neuroscience vol. 9 (2015): 34. doi: https://doi.org/10.3389/fncel.2015.00034
Guglielmi L, Servettini I, Caramia M, Catacuzzeno L, Franciolini F, D'Adamo MC, Pessia M. Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder. Front Cell Neurosci. 2015 Mar 02;9:34. doi: 10.3389/fncel.2015.00034. eCollection 2015. PMID: 25784856; PMCID: PMC4345917.
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Fragile X mental retardation protein: from autism to neurodegenerative disease.

Frontiers in cellular neuroscience

Wang H.
PMID: 25729352
Front Cell Neurosci. 2015 Feb 12;9:43. doi: 10.3389/fncel.2015.00043. eCollection 2015.

No abstract available.

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Wang H. Fragile X mental retardation protein: from autism to neurodegenerative disease. Front Cell Neurosci. 2015;9:43doi: 10.3389/fncel.2015.00043.
Wang, H. (2015). Fragile X mental retardation protein: from autism to neurodegenerative disease. Frontiers in cellular neuroscience, 943. https://doi.org/10.3389/fncel.2015.00043
Wang, Hansen. "Fragile X mental retardation protein: from autism to neurodegenerative disease." Frontiers in cellular neuroscience vol. 9 (2015): 43. doi: https://doi.org/10.3389/fncel.2015.00043
Wang H. Fragile X mental retardation protein: from autism to neurodegenerative disease. Front Cell Neurosci. 2015 Feb 12;9:43. doi: 10.3389/fncel.2015.00043. eCollection 2015. PMID: 25729352; PMCID: PMC4325920.
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Metabonomics adds a new dimension to fragile X syndrome.

Genome medicine

Heulens I, Braat S, Kooy RF.
PMID: 22204589
Genome Med. 2011 Dec 28;3(12):80. doi: 10.1186/gm296.

Fragile X syndrome is the most common cause of inherited intellectual disability, but the underlying pathophysiology is complex and effective treatments are lacking. In a recent study of fragile X mental retardation 1 (Fmr1) knockout mice, the metabolic profile...

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Heulens I, Braat S, Kooy RF. Metabonomics adds a new dimension to fragile X syndrome. Genome Med. 2011;3(12):80doi: 10.1186/gm296.
Heulens, I., Braat, S., & Kooy, R. F. (2011). Metabonomics adds a new dimension to fragile X syndrome. Genome medicine, 3(12), 80. https://doi.org/10.1186/gm296
Heulens, Inge, et al. "Metabonomics adds a new dimension to fragile X syndrome." Genome medicine vol. 3,12 (2011): 80. doi: https://doi.org/10.1186/gm296
Heulens I, Braat S, Kooy RF. Metabonomics adds a new dimension to fragile X syndrome. Genome Med. 2011 Dec 28;3(12):80. doi: 10.1186/gm296. PMID: 22204589; PMCID: PMC3334545.
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Impairment of fragile X mental retardation protein-metabotropic glutamate receptor 5 signaling and its downstream cognates ras-related C3 botulinum toxin substrate 1, amyloid beta A4 precursor protein, striatal-enriched protein tyrosine phosphatase, and homer 1, in autism: a postmortem study in cerebellar vermis and superior frontal cortex.

Molecular autism

Fatemi SH, Folsom TD, Kneeland RE, Yousefi MK, Liesch SB, Thuras PD.
PMID: 23803181
Mol Autism. 2013 Jun 26;4(1):21. doi: 10.1186/2040-2392-4-21.

BACKGROUND: Candidate genes associated with idiopathic forms of autism overlap with other disorders including fragile X syndrome. Our laboratory has previously shown reduction in fragile X mental retardation protein (FMRP) and increase in metabotropic glutamate receptor 5 (mGluR5) in...

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Fatemi SH, Folsom TD, Kneeland RE, et al. Impairment of fragile X mental retardation protein-metabotropic glutamate receptor 5 signaling and its downstream cognates ras-related C3 botulinum toxin substrate 1, amyloid beta A4 precursor protein, striatal-enriched protein tyrosine phosphatase, and homer 1, in autism: a postmortem study in cerebellar vermis and superior frontal cortex. Mol Autism. 2013;4(1):21doi: 10.1186/2040-2392-4-21.
Fatemi, S. H., Folsom, T. D., Kneeland, R. E., Yousefi, M. K., Liesch, S. B., & Thuras, P. D. (2013). Impairment of fragile X mental retardation protein-metabotropic glutamate receptor 5 signaling and its downstream cognates ras-related C3 botulinum toxin substrate 1, amyloid beta A4 precursor protein, striatal-enriched protein tyrosine phosphatase, and homer 1, in autism: a postmortem study in cerebellar vermis and superior frontal cortex. Molecular autism, 4(1), 21. https://doi.org/10.1186/2040-2392-4-21
Fatemi, S Hossein, et al. "Impairment of fragile X mental retardation protein-metabotropic glutamate receptor 5 signaling and its downstream cognates ras-related C3 botulinum toxin substrate 1, amyloid beta A4 precursor protein, striatal-enriched protein tyrosine phosphatase, and homer 1, in autism: a postmortem study in cerebellar vermis and superior frontal cortex." Molecular autism vol. 4,1 (2013): 21. doi: https://doi.org/10.1186/2040-2392-4-21
Fatemi SH, Folsom TD, Kneeland RE, Yousefi MK, Liesch SB, Thuras PD. Impairment of fragile X mental retardation protein-metabotropic glutamate receptor 5 signaling and its downstream cognates ras-related C3 botulinum toxin substrate 1, amyloid beta A4 precursor protein, striatal-enriched protein tyrosine phosphatase, and homer 1, in autism: a postmortem study in cerebellar vermis and superior frontal cortex. Mol Autism. 2013 Jun 26;4(1):21. doi: 10.1186/2040-2392-4-21. PMID: 23803181; PMCID: PMC3702477.
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Characterization of Fragile X Mental Retardation Protein granules formation and dynamics in Drosophila.

Biology open

Gareau C, Martel D, Coudert L, Mellaoui S, Mazroui R.
PMID: 23336078
Biol Open. 2013 Jan 15;2(1):68-81. doi: 10.1242/bio.20123012. Epub 2012 Oct 31.

FMRP is an evolutionarily conserved protein that is highly expressed in neurons and its deficiency causes fragile X mental retardation syndrome. FMRP controls the translation of target mRNAs in part by promoting their dynamic transport in neuronal RNA granules....

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Gareau C, Martel D, Coudert L, et al. Characterization of Fragile X Mental Retardation Protein granules formation and dynamics in Drosophila. Biol Open. 2012;2(1):68-81doi: 10.1242/bio.20123012.
Gareau, C., Martel, D., Coudert, L., Mellaoui, S., & Mazroui, R. (2013). Characterization of Fragile X Mental Retardation Protein granules formation and dynamics in Drosophila. Biology open, 2(1), 68-81. https://doi.org/10.1242/bio.20123012
Gareau, Cristina, et al. "Characterization of Fragile X Mental Retardation Protein granules formation and dynamics in Drosophila." Biology open vol. 2,1 (2013): 68-81. doi: https://doi.org/10.1242/bio.20123012
Gareau C, Martel D, Coudert L, Mellaoui S, Mazroui R. Characterization of Fragile X Mental Retardation Protein granules formation and dynamics in Drosophila. Biol Open. 2013 Jan 15;2(1):68-81. doi: 10.1242/bio.20123012. Epub 2012 Oct 31. PMID: 23336078; PMCID: PMC3545270.
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Showing 1 to 12 of 130 entries