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c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease.
Mol Genet Metab
November 2023
Magna Graecia University of Catanzaro Health Sciences Department, Italy.
Fabry Disease (FD) (OMIM 301500) is a metabolic X-linked inherited lysosomal storage disorder that results from the deficient activity of Alpha-Galactosidase A (Alpha-Gal), a lysosomal hydrolase that cleaves neutral glycosphingolipids with terminal N-linked galactosyl moieties, mainly globotriaosylceramides (Gb3). The enzyme, encoded by a 12-kb gene mapping on the long arm (Xq22.1 region) of the X chromosome, is constituted by a glycosylated subunit of approximately 55 kD, synthesized as an inactive precursor that undergoes maturation in endoplasmic reticulum (ER) and Golgi apparatus before being delivered to the lysosome to form a functional dimer.
View Article and Find Full Text PDFLate-Onset Oligosymptomatic Myotonic Dystrophy Type 1 Mimicking Prodromal Dementia With Lewy Bodies.
Am J Geriatr Psychiatry
September 2021
Department of Psychiatry (TW, RY, AS, HY), Hamamatsu University School of Medicine, Hamamatsu, Japan.
Multiple system aging-related tau astrogliopathy with complex proteinopathy in an oligosymptomatic octogenarian.
Neuropathology
February 2021
Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria.
The combination of multiple neurodegenerative proteinopathies is increasingly recognized. Together they can potentiate neuronal dysfunction and contribute to complex neurological symptoms. We report an octogenarian female case of multiple extraneural metastases of a rectal carcinoma.
View Article and Find Full Text PDFFamilial Arrhythmogenic Cardiomyopathy: Clinical Determinants of Phenotype Discordance and the Impact of Endurance Sports.
J Clin Med
November 2020
University Heart Center Zurich, Division of Cardiology, 8091 Zurich, Switzerland.
Arrhythmogenic cardiomyopathy (ACM) is primarily a familial disease with autosomal dominant inheritance. Incomplete penetrance and variable expression are common, resulting in diverse clinical manifestations. Although recent studies on genotype-phenotype relationships have improved our understanding of the molecular mechanisms leading to the expression of the full-blown disease, the underlying genetic substrate and the clinical course of asymptomatic or oligo-symptomatic mutation carriers are still poorly understood.
View Article and Find Full Text PDFPrevalence of Fabry Disease in Young Patients with Stroke in Argentina.
J Stroke Cerebrovasc Dis
March 2018
Academia de Medicina, Buenos Aires, Argentina.
Background: Fabry disease (FD) is an underdiagnosed cause of stroke in young adults, but the frequency of this association is largely unknown. We estimated the prevalence of FD in a nationwide cohort of young adults who had stroke and transient ischemic attack (TIA) in Argentina.
Methods: This was a prospective, multicenter study of stroke and FD in young adults (18-55 years) conducted in Argentina between 2011 and 2015.
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