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Article
Open AccessMutated ATP10B increases Parkinson’s disease risk by compromising lysosomal glucosylceramide export
Parkinson’s disease (PD) is a progressive neurodegenerative brain disease presenting with a variety of motor and non-motor symptoms, loss of midbrain dopaminergic neurons in the substantia nigra pars compacta ...
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Clinical Aspects of Heritable Connective Tissue Disorders
Connective tissue surrounds, supports, and connects a multitude of tissues and organs. It is composed of a cellular component (mostly fibroblasts) and extracellular matrix, with the latter consisting of fibers...
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Genetics of Marfan Syndrome and Loeys-Dietz Syndrome
Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are two clinically related aortic aneurysm conditions. LDS shows significant clinical overlap with MFS as regards its vascular and skeletal features, includ...