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3 beta galactosidase/seizures
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Pagina 1 a partire dal 54 risultati
Substrate specificity and distribution of acid beta-galactosidase activities in seizure-susceptible and non-susceptible strains of mice.
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The properties and distribution of beta-galactosidase were studied in the mouse brain using the artificial substrate methylumbelliferyl-beta-galactoside. Enzyme activities were compared between an audiogenic seizure-susceptible mouse strain (DBA/2) and three non-susceptible strains of mice (BALB/c,
Therapeutic liabilities of in vivo viral vector tropism: adeno-associated virus vectors, NMDAR1 antisense, and focal seizure sensitivity.
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The N-methyl-D-aspartic acid (NMDA) receptor provides a potential target for gene therapy of focal seizure disorders. To test this approach, we cloned a 729-bp NMDA receptor (NMDAR1) cDNA fragment in the antisense orientation into adeno-associated virus (AAV) vectors, where expression was driven by
Audiogenic seizure activity following HSV-1 GAD65 sense or antisense injection into inferior colliculus of Long-Evans rat.
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Herpes virus technology involving manipulation of GAD65 was used to study effects on audiogenic seizures (AGS). Audiogenic seizure behaviors were examined following injections of replication-defective herpes simplex virus (HSV-1) vectors incorporating sense or antisense toward GAD65 along with 10%
Gmi-gangliosidosis. A variant with high activity of hepatic neutral beta-galactosidase.
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A case of GM1-gangliosidosis with high activity of hepatic neutral beta-galactosidase is reported. GM1-beta-galactosidase was deficient. Ganglioside GM1 was accumulated in the liver of this patient. Clinically this Japanese girl started convulsive seizures at 5 months of age, had hepatomegaly, and
Adult type mucolipidosis with beta-galactosidase and sialidase deficiency. Histological and biochemical studies.
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A case of adult type mucolipidosis with beta-galactosidase and sialidase deficiency is described. This patient, a woman aged 20, had mental retardation, macular cherry-red spots, corneal clouding, gargoyle-like face, cerebellar ataxia, myoclonus and convulsions beginning at the age of 14. Bony
Activation of the GABA(A)-receptor delta-subunit gene promoter following pentylenetetrazole-induced seizures in transgenic mice.
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An impairment of GABA(A)-receptor-mediated inhibitory neurotransmission has been implicated in the development of epileptic seizures. To determine whether seizures affect GABA(A)-receptor gene transcription in vivo, a transgenic mouse line carrying a lacZ-fusion gene driven by GABA(A)-receptor
Attenuation of seizure in P77PMC rats with an HSV-vector expressing IL-1ra in brain.
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Cloned human IL-1ra (IL-1 receptor antagonist, IL-1ra) cDNA is inserted into pHSVLac, resulting in recombinant named pHSV-IL-1ra. pHSVLac and pHSV-IL-lra were packaged into HSV-1 particles using HSV-1 ts K as helper virus. The results showed that: (i) vero cell infected by pHSV-IL-1ra particles
Neuropathological findings of an autopsy case of adult beta-galactosidase and neuraminidase deficiency.
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An autopsy case of a Japanese male with familial beta-galactosidase and neuraminidase deficiency is reported. The clinical picture was characterized by adult onset, a gargoyle-like face, cerebellar ataxia, myoclonus, convulsions, retinal degeneration and cortical blindness. Histopathologically, most
Conditionally immortalized cell lines, engineered to produce and release GABA, modulate the development of behavioral seizures.
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Transplantation of genetically engineered cells can provide sustained focal delivery of naturally occurring molecules, including neurotransmitters and growth factors. We have engineered immortalized mouse cortical neurons and glia to deliver GABA by driving GAD(65) expression. Engineered cell lines
Adenoviral gene transfer of aspartoacylase ameliorates tonic convulsions of spontaneously epileptic rats.
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The spontaneously epileptic rat (SER: tm/tm, zi/zi) shows both absence-like seizures and tonic convulsions. Our previous studies have demonstrated that absence-like seizures of the tremor rat (tm/tm), one of the parent strains of SER, were inhibited by adenoviral transfer of the aspartoacylase
Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver.
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An adult patient with macular cherry-red spots, a gargoyle-like physical appearance, cerebellar ataxia, myoclonus, convulsive seizures, and pyramidal tract signs showed a profound deficiency of beta-galactosidase in liver and brain. Thrombocytopathy of undetermined etiology was evident since
Myoclonic seizures in Krabbe disease: a unique presentation in late-onset type.
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Krabbe disease is a rare, recessively inherited degenerative disorder of myelin, caused by a deficiency of the lysosomal enzyme galactocerebroside beta-galactosidase. Ninety-five percent of cases begin in early infancy, typically presenting with irritability, hypertonicity, tonic spasms, visual loss
The mouse tissue plasminogen activator gene 5' flanking region directs appropriate expression in development and a seizure-enhanced response in the CNS.
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Tissue plasminogen activator (t-PA) is a secreted serine protease implicated in multiple aspects of development. In the adult rat brain, transcription of t-PA is an immediate-early response in the hippocampus following treatments that induce neuronal plasticity. To study the sequence elements that
Human neural stem cell transplantation reduces spontaneous recurrent seizures following pilocarpine-induced status epilepticus in adult rats.
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Transplantation of neural stem cells (NSCs) can replace lost neurons and improve the functional deficits. Cell transplantation strategies have been tried in the epileptic disorder, but the effect of exogenous NSCs is unknown. In this study, we attempted to test the anti-epileptogenic effect of NSCs
Urinary excretion of N-acetyl-beta-glucosaminidase and beta-galactosidase by patients with epilepsy.
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In an effort to detect active renal tubular dysfunction in 74 epileptic patients being treated with antiepileptic drugs (AEDs), we measured the urinary activity of two lysosomal enzymes, N-acetyl-beta-glucosaminidase (NAG) and beta-galactosidase (beta-gal). The heterogeneity of the types of seizures
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