Monitoring and measuring autophagy

SR Yoshii, N Mizushima - International journal of molecular sciences, 2017 - mdpi.com
Autophagy is a cytoplasmic degradation system, which is important for starvation adaptation
and cellular quality control. Recent advances in understanding autophagy highlight its …

Fabry disease

DP Germain - Orphanet journal of rare diseases, 2010 - Springer
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid
metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic …

Autophagy failure in Alzheimer's disease—locating the primary defect

RA Nixon, DS Yang - Neurobiology of disease, 2011 - Elsevier
Autophagy, the major degradative pathway for organelles and long-lived proteins, is
essential for the survival of neurons. Mounting evidence has implicated defective autophagy …

Autophagy in lysosomal storage disorders

AP Lieberman, R Puertollano, N Raben… - Autophagy, 2012 - Taylor & Francis
Lysosomes are ubiquitous intracellular organelles that have an acidic internal pH, and play
crucial roles in cellular clearance. Numerous functions depend on normal lysosomes …

[HTML][HTML] Autophagy, lipophagy and lysosomal lipid storage disorders

C Ward, N Martinez-Lopez, EG Otten, B Carroll… - … et Biophysica Acta (BBA …, 2016 - Elsevier
Autophagy is a catabolic process with an essential function in the maintenance of cellular
and tissue homeostasis. It is primarily recognised for its role in the degradation of …

MitophAging: mitophagy in aging and disease

D Bakula, M Scheibye-Knudsen - Frontiers in cell and developmental …, 2020 - frontiersin.org
Maintaining mitochondrial health is emerging as a keystone in aging and associated
diseases. The selective degradation of mitochondria by mitophagy is of particular …

Fabry disease: Mechanism and therapeutics strategies

X Li, X Ren, Y Zhang, L Ding, M Huo, Q Li - Frontiers in pharmacology, 2022 - frontiersin.org
Fabry disease is a monogenic disease characterized by a deficiency or loss of the α-
galactosidase A (GLA). The resulting impairment in lysosomal GLA enzymatic activity leads …

Fabry disease: molecular basis, pathophysiology, diagnostics and potential therapeutic directions

K Kok, KC Zwiers, RG Boot, HS Overkleeft, JMFG Aerts… - Biomolecules, 2021 - mdpi.com
Fabry disease (FD) is a lysosomal storage disorder (LSD) characterized by the deficiency of
α-galactosidase A (α-GalA) and the consequent accumulation of toxic metabolites such as …

Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy

F Braun, A Abed, D Sellung, M Rogg… - The Journal of …, 2023 - Am Soc Clin Investig
Current therapies for Fabry disease are based on reversing intracellular accumulation of
globotriaosylceramide (Gb3) by enzyme replacement therapy (ERT) or chaperone-mediated …

Emerging role of autophagy in kidney function, diseases and aging

TB Huber, CL Edelstein, B Hartleben, K Inoki, M Jiang… - Autophagy, 2012 - Taylor & Francis
Autophagy is a highly conserved process that degrades cellular long-lived proteins and
organelles. Accumulating evidence indicates that autophagy plays a critical role in kidney …