Browsing by Author "312effb5-d064-4075-b491-5a2bb4d9b6bb"
Now showing items 1-13 of 13
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(Lippincott Williams and Wilkins, 2002)We have established two immortalized cell lines from dorsal root ganglia of normal (G4b) and trisomy 16 mice (GTI), a model for Down syndrome. By immunohistochemistry, both cell lines exhibit neuronal traits and lack glial ...
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(2012)Human Down syndrome (DS) is determined by the trisomy of autosome 21 and is expressed by multiple abnormalities, being mental retardation the most striking feature. The condition results in altered electrical membrane ...
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(2007)Various studies have focused in the relative contribution of different voltage-activated Ca2+ channels (VACC) to total transmitter release. However, how Ca2+ entry through a given VACC subtype defines the pattern of ...
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(Academic Press Inc., 2002)We have established hippocampal cell lines from normal and trisomy 16 fetal mice, a model of human trisomy 21. Both cell lines, named H1b (derived from a normal animal) and HTk (trisomic) possess neuronal markers by ...
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(2014)Dynamin-2 is a pleiotropic GTPase whose best-known function is related to membrane scission during vesicle budding from the plasma or Golgi membranes. In the nervous system, dynamin-2 participates in synaptic vesicle ...
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(Nature Publishing Group, 2017)Dynamin-2 is a ubiquitously expressed GTP-ase that mediates membrane remodeling. Recent findings indicate that dynamin-2 also regulates actin dynamics. Mutations in dynamin-2 cause dominant centronuclear myopathy (CNM), a ...
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(2016)Mutations in the dysferlin gene are linked to a group of muscular dystrophies known as dysferlinopathies. These myopathies are characterized by progressive atrophy. Studies in muscle tissue from dysferlinopathy patients ...
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(2002)We report the establishment of continuously growing cell lines from spinal cords of normal and trisomy 16 fetal mice. We show that both cell lines, named M4b (derived from a normal animal) and MTh (trisomic) possess ...
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(Springer, 2017)The Na+/myo-inositol cotransporter (SMIT1) is overexpressed in human Down syndrome (DS) and in trisomy 16 fetal mice (Ts16), an animal model of the human condition. SMIT1 overexpression determines increased levels of ...
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(Frontiers Media, 2018-07-06)In humans, Down Syndrome (DS) is a condition caused by partial or full trisomy of chromosome 21. Genes present in the DS critical region can result in excess gene dosage, which at least partially can account for DS phenotype. ...
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(Elsevier, 2012)Neurodegenerative disorders constitute a growing concern worldwide. Their incidence has increased steadily, in particular among the elderly, a high-risk population that is becoming an important segment of society. ...
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Small-molecule aggregation inhibitors reduce excess amyloid in a trisomy 16 mouse cortical cell line (SOC BIOLGIA CHILE, 2008)We have previously characterized a number of small molecule organic compounds that prevent the aggregation of the β-amyloid peptide and its neurotoxicity in hippocampal neuronal cultures. We have now evaluated the effects ...
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(2016)Background: Mutations in the gene encoding for dysferlin cause recessive autosomal muscular dystrophies called dysferlinopathies. These mutations induce several alterations in skeletal muscles, including, inflammation, ...
