Search Results - "R O Brady"
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D-Serine Is an Endogenous Ligand for the Glycine Site of the N-Methyl-D-Aspartate Receptor
Published in Proceedings of the National Academy of Sciences - PNAS (25-04-2000)“…Functional activity of N-methyl-D-aspartate (NMDA) receptors requires both glutamate binding and the binding of an endogenous coagonist that has been presumed…”
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2
Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease
Published in Brain (London, England : 1878) (01-01-2007)“…Fabry disease, OMIM 301500, is a progressive multisystem storage disorder due to the deficiency of α-galactosidase A (GALA). Neurological and vascular…”
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3
Efficient correction of Fabry mice and patient cells mediated by lentiviral transduction of hematopoietic stem progenitor cells
Published in Gene therapy (01-02-2007)“…A deficiency in alpha-galactosidase A (alpha-gal A) activity causes Fabry disease. Virus-based delivery of genes can correct cells and establish a sustained…”
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4
Purification of Serine Racemase: Biosynthesis of the Neuromodulator D-Serine
Published in Proceedings of the National Academy of Sciences - PNAS (19-01-1999)“…High levels of D-serine occur in mammalian brain, where it appears to be an endogenous ligand of the glycine site of N-methyl-D-aspartate receptors. In glial…”
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5
Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease
Published in Journal of inherited metabolic disease (01-09-2004)“…Gaucher disease, the most common sphingolipidosis, is caused by a decreased activity of glucosylceramide β‐glucosidase, resulting in the accumulation of…”
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6
Infusion of α -Galactosidase a Reduces Tissue Globotriaosylceramide Storage in Patients with Fabry Disease
Published in Proceedings of the National Academy of Sciences - PNAS (04-01-2000)“…Fabry disease is a lysosomal storage disorder caused by a deficiency of the lysosomal enzyme α -galactosidase A (α -gal A). This enzymatic defect results in…”
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7
Clinical Features of and Recent Advances in Therapy for Fabry Disease
Published in JAMA (06-12-2000)“…Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of α-galactosidase A. Intracellular accumulation of…”
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Journal Article Conference Proceeding -
8
D-Serine as a Neuromodulator: Regional and Developmental Localizations in Rat Brain Glia Resemble NMDA Receptors
Published in The Journal of neuroscience (01-03-1997)“…D-Serine is localized in mammalian brain to a discrete population of glial cells near NMDA receptors, suggesting that D-serine is an endogenous agonist of the…”
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9
Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease : Reversal by enzyme replacement therapy
Published in Circulation (New York, N.Y.) (25-09-2001)“…Fabry disease is an X-linked lysosomal deficiency of alpha-galactosidase A that results in cellular accumulation of galacto-conjugates such as…”
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Image-guided, direct convective delivery of glucocerebrosidase for neuronopathic Gaucher disease
Published in Neurology (23-01-2007)“…To determine if convection-enhanced delivery (CED) of glucocerebrosidase could be used to treat targeted sites of disease progression in the brain and…”
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11
A longitudinal pilot proton MRS investigation of the manic and euthymic states of bipolar disorder
Published in Translational psychiatry (01-09-2012)“…Several lines of evidence implicate dysfunction in brain energy production as a key component of bipolar disorder. In particular, elevated brain lactate levels…”
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12
Targeted Disruption of the Cyclin-Dependent Kinase 5 Gene Results in Abnormal Corticogenesis, Neuronal Pathology and Perinatal Death
Published in Proceedings of the National Academy of Sciences - PNAS (01-10-1996)“…Although cyclin-dependent kinase 5 (Cdk5) is closely related to other cyclin-dependent kinases, its kinase activity is detected only in the postmitotic…”
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13
Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice
Published in Neurobiology of disease (01-01-2009)“…Abstract Fabry disease (OMIM 301500) is a rare X-linked recessive disorder caused by mutations in the α-galactosidase gene (GLA). Loss of α-galactosidase…”
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14
Image-guided, direct convective delivery of glucocerebrosidase for neuronopathic gaucher disease
Published in Neurology (23-01-2007)Get full text
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15
Dynamic intervention-based biomarkers may reduce heterogeneity and motivate targeted interventions in clinical high risk for psychosis
Published in Schizophrenia research (01-08-2022)Get full text
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Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3
Published in Neurobiology of disease (01-12-2003)“…Patients with Gaucher disease have been classified as type 1 nonneuronopathic, type 2 acute neuronopathic, and type 3 chronic neuronopathic phenotypes…”
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17
Enzyme replacement therapy in Fabry disease
Published in Journal of inherited metabolic disease (01-01-2001)“…Recent clinical trials have demonstrated that enzyme replacement therapy with α‐galactosidase A (α‐Gal A) constitutes a major clinical advance in the treatment…”
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Journal Article Conference Proceeding -
18
A longitudinal pilot proton MRS investigation of the manic and euthymic states of bipolar disorder
Published in Translational psychiatry (11-09-2012)Get full text
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19
Development of Multigene and Regulated Lentivirus Vectors
Published in Journal of Virology (01-11-2000)“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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20
Enzyme therapy in type 1 Gaucher disease : comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources
Published in Annals of internal medicine (1995)“…To compare the efficacy of mannose-terminated glucocerbrosidase prepared from natural (alglucerase; Ceredase, Genzyme Corp., Cambridge, Massachusetts) and…”
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