Results 31 to 40 of about 31,581 (280)

Lysosomal exocytosis and lipid storage disorders

Journal of Lipid Research, 2014
Lysosomes are acidic compartments in mammalian cells that are primarily responsible for the breakdown of endocytic and autophagic substrates such as membranes, proteins, and lipids into their basic building blocks. Lysosomal storage diseases (LSDs) are a
Mohammad Ali Samie, Haoxing Xu
doaj   +1 more source

Autophagy, lipophagy and lysosomal lipid storage disorders [PDF]

, 2016
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 dysfunctional proteins and unwanted organelles, however in recent years the ...
Sarkar, Sovan, Maetzel, Dorothea, Martinez-Lopez, Nuria, Singh, Rajat, Korolchuk, Viktor I., Ward, Carl, Otten, Elsje G., Carroll, Bernadette   +7 more
core   +1 more source

Lysosomal Storage Diseases-Regulating Neurodegeneration

, 2015
Autophagy is a complex pathway regulated by numerous signaling events that recycles macromolecules and can be perturbed in lysosomal storage diseases (LSDs). The concept of LSDs, which are characterized by aberrant, excessive storage of cellular material
Jay E. Brenman, Rob U. Onyenwoke
core   +1 more source

Role of lysosomes in physiological activities, diseases, and therapy

Journal of Hematology & Oncology, 2021
Long known as digestive organelles, lysosomes have now emerged as multifaceted centers responsible for degradation, nutrient sensing, and immunity. Growing evidence also implicates role of lysosome-related mechanisms in pathologic process. In this review,
Ziqi Zhang, Pengfei Yue, Tianqi Lu, Yang Wang, Yuquan Wei, Xiawei Wei   +5 more
doaj   +1 more source

Treatment of lysosomal storage disorders

BMJ, 2003
Increased awareness and diagnosis are important as treatment is now feasible The lysosomal storage disorders have hitherto justifiably been consigned to the small print sections of textbooks of biochemistry and internal medicine and optional modules of the undergraduate medical curriculum.
Atul B, Mehta, Susan, Lewis, Christine, Laverey   +2 more
openaire   +3 more sources

Gene Therapy for Lysosomal Storage Disorders

Journal of Inborn Errors of Metabolism and Screening, 2017
Lysosomal storage disorders (LSDs) are a group of diseases with multisystemic features. Current treatments have limitations and gene therapy arises as a promising treatment option. Here, we discuss some of the most recent studies for gene therapy in LSD,
Esteban Alberto Gonzalez MSc, Guilherme Baldo PhD   +1 more
doaj   +1 more source

Mitochondria and quality control defects in a mouse model of Gaucher Disease-links to Parkinson's Disease [PDF]

, 2013
Mutations in the glucocerebrosidase (gba) gene cause Gaucher disease (GD), the most common lysosomal storage disorder, and increase susceptibility to Parkinson's disease (PD).
Duchen, Michael R., Gegg, ME, Osellame, LD, Gegg, Matthew E., Osellame, Laura D., Richard-Londt, A, Hargreaves, Iain P., Brandner, Sebastian, Brandner, S, Richard-Londt, Angela, Waddington, Simon N., Hargreaves, IP, Waddington, SN, Schapira, AHV, Rahim, AA, Rahim, Ahad A., Duchen, MR, Schapira, AH, Schapira, Anthony H.V.   +18 more
core   +1 more source

Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease

Orphanet Journal of Rare Diseases
Background Fabry disease is a rare inherited disorder resulting from deficient α-galactosidase A enzyme activity. Common disease manifestations are sweating abnormalities, neuropathic pain, gastrointestinal symptoms and fatigue.
Simona D’Amore, Mark Mckie, Andrew Fahey, David Bleloch, Giuseppina Grillo, Michael Hughes, Uma Ramaswami   +6 more
doaj   +1 more source

The ubiquitin‐proteasome system and autophagy as guardians of the cellular proteome

FEBS Letters, EarlyView.
This Perspective covers the three principles governing the crosstalk between the ubiquitin‐proteasome system and autophagy in cellular proteostasis: (1) a shared ubiquitin code routing substrates via shuttle factors or autophagy receptors; (2) spatial compartmentalization into phase‐separated degradation hubs and organelle‐specific modules (exemplified
Ivan Dikic
wiley   +1 more source

Inflammation in Fabry disease: stages, molecular pathways, and therapeutic implications

Frontiers in Cardiovascular Medicine
Fabry disease, a multisystem X-linked disorder caused by mutations in the alpha-galactosidase gene. This leads to the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso-Gb3), culminating in various clinical signs and symptoms ...
Hibba Kurdi, Hibba Kurdi, Lucia Lavalle, Lucia Lavalle, James C. C. Moon, James C. C. Moon, Derralynn Hughes, Derralynn Hughes   +7 more
doaj   +1 more source