Results 31 to 40 of about 90,357 (220)

Activation of mitochondrial TRAP1 stimulates mitochondria-lysosome crosstalk and correction of lysosomal dysfunction

iScience, 2022
Summary: Numerous studies have established the involvement of lysosomal and mitochondrial dysfunction in the pathogenesis of neurodegenerative disorders such as Alzheimer’s and Parkinson diseases. Building on our previous studies of the neurodegenerative
Fannie W. Chen, Joanna P. Davies, Raul Calvo, Jagruti Chaudhari, Georgia Dolios, Mercedes K. Taylor, Samarjit Patnaik, Jean Dehdashti, Rebecca Mull, Patricia Dranchack, Amy Wang, Xin Xu, Emma Hughes, Noel Southall, Marc Ferrer, Rong Wang, Juan J. Marugan, Yiannis A. Ioannou   +17 more
doaj   +1 more source

Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review

Journal of Clinical Medicine, 2020
Mitochondrial dysfunction is emerging as an important contributory factor to the pathophysiology of lysosomal storage disorders (LSDs). The cause of mitochondrial dysfunction in LSDs appears to be multifactorial, although impaired mitophagy and oxidative
K. Stepien, F. Roncaroli, Nadia Turton, C. Hendriksz, M. Roberts, R. Heaton, I. Hargreaves   +6 more
semanticscholar   +1 more source

Autophagy in Lysosomal Storage Disorders [PDF]

, 2012
Lysosomes are ubiquitous intracellular organelles that have an acidic internal pH, and play crucial roles in cellular clearance. Numerous functions depend on normal lysosomes, including the turnover of cellular constituents, cholesterol homeostasis ...
Ballabio, Andrea, Lieberman, Andrew P., Puertollano, Rosa, Raben, Nina, Slaugenhaupt, Susan Ann, Walkley, Steven U.   +5 more
core   +1 more source

Acetyl-leucine slows disease progression in lysosomal storage disorders

bioRxiv, 2020
Acetyl-DL-leucine (ADLL) is a derivative of the branched chain amino acid leucine. In observational clinical studies ADLL improved symptoms of ataxia, in particular in patients with the lysosomal storage disorder (LSD), Niemann-Pick disease type C 1 ...
E. Kaya, David A Smith, Claire Smith, Lauren Morris, T. Bremova-Ertl, M. Cortina-Borja, P. Fineran, K. Morten, J. Poulton, B. Boland, J. Spencer, M. Strupp, F. Platt   +12 more
semanticscholar   +1 more source

Biomarkers of Myocardial Fibrosis: Revealing the Natural History of Fibrogenesis in Fabry Disease Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2018
BackgroundCardiomyopathy is a major determinant of overall Fabry disease (FD) prognosis, with the worst outcomes in patients with myocardial fibrosis.
Patrício Aguiar, Olga Azevedo, Rui Pinto, Jacira Marino, Carlos Cardoso, Nuno Sousa, Damião Cunha, Derralynn Hughes, José Luís Ducla Soares   +8 more
doaj   +1 more source

Drug delivery in overcoming the blood-brain barrier: role of nasal mucosal grafting [PDF]

, 2017
The blood–brain barrier (BBB) plays a fundamental role in protecting and maintaining the homeostasis of the brain. For this reason, drug delivery to the brain is much more difficult than that to other compartments of the body. In order to bypass or cross
Carafa, Maria, Di Marzio, Luisa, Hanieh, PATRIZIA NADIA, Marianecci, Carlotta, Paolino, Donatella, Rinaldi, Federica   +5 more
core   +1 more source

Chloroquine and bafilomycin A mimic lysosomal storage disorders and impair mTORC1 signalling

Bioscience Reports, 2020
Autophagy is dependent upon lysosomes, which fuse with the autophagosome to complete the autophagic process and whose acidic interior permits the activity of their intraluminal degradative enzymes.
Anthony O. Fedele, C. Proud
semanticscholar   +1 more source

A health state utility valuation study to assess the impact of treatment mode of administration in Gaucher disease

Orphanet Journal of Rare Diseases, 2018
Background This study aimed to obtain UK societal-based utility values for health states related to treatment mode of administration using Gaucher disease as the background condition.
Monica Hadi, Paul Swinburn, Luba Nalysnyk, Alaa Hamed, Atul Mehta   +4 more
doaj   +1 more source

Aberrant lysosomal carbohydrate storage accompanies endocytic defects and neurodegeneration in Drosophila benchwarmer [PDF]

, 2005
Lysosomal storage is the most common cause of neurodegenerative brain disease in preadulthood. However, the underlying cellular mechanisms that lead to neuronal dysfunction are unknown.
Bellen, Hugo J, Callaerts, Patrick, Dermaut, Bart, Kania, Artur, Norga, Koenraad K, Pan, Hongling, Verstreken, Patrik, Zhou, Yi   +7 more
core   +3 more sources

Rag GTPases are cardioprotective by regulating lysosomal function. [PDF]

, 2014
The Rag family proteins are Ras-like small GTPases that have a critical role in amino-acid-stimulated mTORC1 activation by recruiting mTORC1 to lysosome.
Guan, Kun-Liang, Jewell, Jenna L, Kim, Young Chul, Mo, Jung-Soon, Park, Hyun Woo, Russell, Ryan C, Sadoshima, Junichi, Sciarretta, Sebastiano, Wu, Xiaohui   +8 more
core   +6 more sources