Results 81 to 90 of about 677,727 (291)
Orphanet Journal of Rare Diseases, 2010 Background The pharmacological chaperones therapy is a promising approach to cure genetic diseases. It relies on substrate competitors used at sub-inhibitory concentration which can be administered orally, reach difficult tissues and have low cost ...
Correra Antonella +4 more
doaj +1 more source
Advanced Science, EarlyView.SIRT6‐mediated ATF3 acetylation drives MGARP transcription and mitochondrial dysfunction in macrophages, promoting macrophage senescence and pulmonary fibrosis. Mechanistically, HSP70/Importin α competitively binds to ATF3, modulating its nuclear translocation.
Demin Cheng +18 more
wiley +1 more source
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
, 2002 Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown.
Tei, C +13 more
core
Identification and Clinical Characterization of a Novel Alpha-Galactosidase A Mutation
Journal of Inborn Errors of Metabolism and Screening, 2014 Fabry disease (FD) is an inborn error of metabolism characterized by deficient/absent activity of lysosomal enzyme alpha-galactosidase A, which results in systemic accumulation of glycosphingolipids and progression to renal failure, heart and ...
Nilton Salles Rosa Neto MD, PhD
doaj +1 more source
Characteristic features of an alpha-galactosidase from mung beans [PDF]
European Journal of Biochemistry, 1984 Two molecular forms, I and II (high and low molecular mass) of alpha-galactosidase were demonstrated in dry mung beans and a multi-step procedure was developed for isolating the tetrameric enzyme I in good yield. Two affinity chromatographic techniques were employed and an overall 10 000-fold purification was achieved.
openaire +2 more sources
Renal IGFBP6 Interacts With THBS1 to Drive Renal Cellular Senescence and Fibrosis
Advanced Science, EarlyView.ABSTRACT Epithelial dedifferentiation and myofibroblast activation are critical drivers of chronic kidney disease (CKD) progression. Elevated levels of IGFBP6 have been linked to decreased renal function in CKD patients, but its precise role and underlying mechanisms remain unclear.
Ju‐tao Yu +26 more
wiley +1 more source
Turkish Journal of Internal Medicine, 2020 Fabry disease, also known as Anderson-Fabry disease, is a X-linked lysosomal storage disease. Alpha-galactosidase A (alpha-Gal A) enzyme deficiency leads globotriaosylceramide (Gb3) accumulation in several cells which causes clinical manifestations of ...
Aysegul Oruc
doaj
Архивъ внутренней медицины, 2013 This article is an analysis of the clinical case of differential diagnosis of Fabry disease. Pecular symptoms and the principles of diagnosis of Fabry disease, as well as current treatment options for this disease are presented.
Г. П. Арутюнов +1 more
doaj +1 more source
Advanced Science, EarlyView.The biomimetic self‐assembly nanomedicine reversing atherosclerosis via senotherapy strategy. ABSTRACT The greatest challenge in atherosclerosis (AS) management lies in achieving lesion reversal, not merely slowing progression. Senescent cell accumulation—driven by continuous generation and apoptotic resistance—perpetuates plaque pathology and ...
Yuhan Tian +9 more
wiley +1 more source
, 2016 Fabry disease is a genetic lysosomal storage disease caused by deficiency of alpha-galactosidase, the enzyme-degrading neutral glycosphingolipid that is transported to lysosome.
Park, Hee Ho +6 more
core +1 more source