[HTML][HTML] Autophagy in health and disease: A comprehensive review

S Saha, DP Panigrahi, S Patil, SK Bhutia - Biomedicine & pharmacotherapy, 2018 - Elsevier
Autophagy, a conserved catabolic process, plays an immensely significant role in a variety
of diseases. However, whether it imparts a protective function in diseases remains …

Dysregulation of autophagy as a common mechanism in lysosomal storage diseases

E Seranova, KJ Connolly, M Zatyka… - Essays in …, 2017 - portlandpress.com
The lysosome plays a pivotal role between catabolic and anabolic processes as the nexus
for signalling pathways responsive to a variety of factors, such as growth, nutrient …

Mitochondria are secreted in extracellular vesicles when lysosomal function is impaired

W Liang, S Sagar, R Ravindran, RH Najor… - Nature …, 2023 - nature.com
Mitochondrial quality control is critical for cardiac homeostasis as these organelles are
responsible for generating most of the energy needed to sustain contraction. Dysfunctional …

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 …

Phase 1 study of AAV9. LAMP2B gene therapy in Danon disease

B Greenberg, M Taylor, E Adler, S Colan… - … England Journal of …, 2024 - Mass Medical Soc
Background Danon disease is a rare, X-linked, monogenic cardiomyopathy caused by
mutations in the lysosomal-associated membrane 2 gene (LAMP2), which encodes the …

Characterization of cardiac metabolism in iPSC-derived cardiomyocytes: lessons from maturation and disease modeling

S Vučković, R Dinani, EE Nollet, DWD Kuster… - Stem cell research & …, 2022 - Springer
Background Induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) have
emerged as a powerful tool for disease modeling, though their immature nature currently …

LAMP-2B regulates human cardiomyocyte function by mediating autophagosome–lysosome fusion

C Chi, A Leonard, WE Knight… - Proceedings of the …, 2019 - National Acad Sciences
Mutations in lysosomal-associated membrane protein 2 (LAMP-2) gene are associated with
Danon disease, which often leads to cardiomyopathy/heart failure through poorly defined …

Danon disease: Gender differences in presentation and outcomes

M Brambatti, O Caspi, A Maolo, E Koshi… - International Journal of …, 2019 - Elsevier
Background Danon disease (DD) is a rare X-linked autophagic vacuolar myopathy,
characterized by high penetrance and severe cardiomyopathy. Because of its rarity, the …

Cardiomyopathy phenotypes in human-induced pluripotent stem cell-derived cardiomyocytes—a systematic review

T Eschenhagen, L Carrier - Pflügers Archiv-European Journal of …, 2019 - Springer
Human-induced pluripotent stem cells (hiPSC) can be differentiated to cardiomyocytes at
high efficiency and are increasingly used to study cardiac disease in a human context. This …

Manifestations of age on autophagy, mitophagy and lysosomes in skeletal muscle

M Triolo, DA Hood - Cells, 2021 - mdpi.com
Sarcopenia is the loss of both muscle mass and function with age. Although the molecular
underpinnings of sarcopenia are not fully understood, numerous pathways are implicated …