Results 31 to 40 of about 2,687,044 (278)

Gaucher Disease—Correlation of Lyso-Gb1 with Haematology and Biochemical Parameters

Metabolites
Background/Objectives: Gaucher disease (GD) is a lysosomal disorder caused by a deficiency of β-glucosidase. Disease-modifying therapies (DMTs) include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Glucosylsphingosine (lyso-Gb1)
Simona D’Amore, Sneha Patel, Juniebel Cooke, Uma Ramaswami   +3 more
doaj   +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

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

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

Treating lysosomal storage disorders: current practice and future prospects. [PDF]

, 2009
There are over 40 human disease states that are caused by defects in various aspects of lysosomal function. Over the past two decades there has been dramatic progress in the development and evaluation of therapies for lysosomal storage disorders, several
Platt, Frances, Platt, Frances M., Lachmann, Robin H., Lachmann, RH, Platt, FM   +4 more
core   +1 more source

Cardiac Affection in Lysosomal Storage Disorders: Review Article [PDF]

Zagazig University Medical Journal
A class of illnesses known as lysosomal storage disorders is brought on by deficiencies in membrane transporters, lysosomal enzymes, or other proteins important in lysosomal biology.
Wessam Mokhtar, Nariman Omar, Asmaa Mohammed Niazy, AL Shaymaa Ahmed Ali   +3 more
doaj   +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

Recent advances in gene therapy for lysosomal storage disorders [PDF]

, 2015
David PW Rastall,1 Andrea Amalfitano1,2 1Department of Microbiology and Molecular Genetics, 2Department of Pediatrics, College of Osteopathic Medicine, Michigan State University, East Lansing, MI, USA Abstract: Lysosomal storage disorders (LSDs) are a ...
Amalfitano A, Rastall DP
core  

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

Microbiome−host proteostasis crosstalk—An emerging perspective on mechanisms and interventions toward healthy longevity

FEBS Letters, EarlyView.
Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
wiley   +1 more source