Browsing by Author "4619f7ad-c7ff-42ad-9efd-003001f704df"
Now showing items 1-8 of 8
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(Frontiers Media, 2020)Synaptic loss induced by soluble oligomeric forms of the amyloid beta peptide (sA beta os) is one of the earliest events in Alzheimer's disease (AD) and is thought to be the major cause of the cognitive deficits. These ...
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(MDPI, 2020)Dysferlin is a transmembrane C-2 domain-containing protein involved in vesicle trafficking and membrane remodeling in skeletal muscle cells. However, the mechanism by which dysferlin regulates these cellular processes ...
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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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(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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Lack of pannexin 1 alters synaptic GluN2 subunit composition and spatial reversal learning in mice (Frontiers media SA, 2018)Long-term potentiation (LTP) and long-term depression (LTD) are two forms of synaptic plasticity that have been considered as the cellular substrate of memory formation. Although LTP has received considerable more attention, ...
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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. ...
