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Introduction
We previously identified UDP‐N‐acetylglucosamine 2‐epimerase (GNE) myopathy patients with sleep apnea and a past history of thrombocytopenia, but without disease‐specific cardiac involvement. This study aimed to clarify the occurrence, severity, and serial changes of these complications.
Methods
Thirty‐three genetically confirmed GNE myopathy patients who participated in a 5‐y longitudinal...
Intracellular metabolism of amyloid β-protein precursor (APP) is important for the pathogenesis of Alzheimer’s disease (AD). Alcadeins (Alcα, Alcβ, and Alcγ) are neural membrane proteins similar to APP in their localization, metabolism, and cellular function. Isoform ε4 of apolipoprotein E (ApoE) is a major risk factor for AD. We found that ApoE expression attenuated intracellular trafficking of APP...
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