Results 41 to 50 of about 72,104 (287)

Reduced lysosomal acid lipase activity: A new marker of liver disease severity across the clinical continuum of non-alcoholic fatty liver disease? [PDF]

, 2019
Lysosomal acid lipase (LAL) plays a key role in intracellular lipid metabolism. Reduced LAL activity promotes increased multi-organ lysosomal cholesterol ester storage, as observed in two recessive autosomal genetic diseases, Wolman disease and ...
Angelico, F, Baratta, F, Carluccio, G, Del Ben, M, Ferro, D, Pastori, D, Tozzi, G, Violi, F   +7 more
core   +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

Identification of active natural products that induce lysosomal biogenesis by lysosome-based screening and biological evaluation

Heliyon, 2022
Lysosomal biogenesis is an essential adaptive process by which lysosomes exert their function in maintaining cellular homeostasis. Defects in lysosomal enzymes and functions lead to lysosome-related diseases, including lysosomal storage diseases and ...
Xiao Ding, Xu Yang, Yueqin Zhao, Yinyuan Wang, Jimin Fei, Zhenpeng Niu, Xianxiang Dong, Xuenan Wang, Biao Liu, Hongmei Li, Xiaojiang Hao, Yuhan Zhao   +11 more
doaj   +1 more source

A Journey towards Understanding the Molecular Pathology and Developing Therapies for Lysosomal Storage Disorders

Cells, 2021
Lysosomal storage disorders (LSDs) are rare, monogenic diseases characterized by aberrant lysosomes with storage material [...]
Ritva Tikkanen
doaj   +1 more source

Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]

, 2014
Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V, Hoehndorf, Robert, Schofield, Paul N   +2 more
core   +2 more sources

AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease [PDF]

, 2017
Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy.
Alvino, Filomena Grazia, Auricchio, Alberto, Ballabio, Andrea, Carrella, Alessandra, De Leonibus, Elvira, Diez-roux, Graciana, Gatto, Francesca, Iacobellis, Francesca, Nusco, Edoardo, Parenti, Giancarlo, Polishchuk, Elena, Polishchuk, Roman, Rossi, Barbara, Tarallo, Antonietta   +13 more
core   +1 more source

Lysosomal storage disease overview [PDF]

Annals of Translational Medicine, 2018
The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate. This storage process leads to a broad spectrum of clinical manifestations depending on the specific substrate and site of accumulation ...
openaire   +2 more sources

pH‐mediated activation of the lysosomal arginine sensor SLC38A9

FEBS Letters, EarlyView.
Cells monitor nutrient levels via the lysosomal transporter SLC38A9 to activate the mechanistic target of rapamycin complex 1 (mTORC1). This study reveals that SLC38A9 function is regulated by pH. We identified histidine 544 as a critical pH sensor that undergoes conformational changes to control amino acid efflux from lysosomes; therefore, it ...
Xuelang Mu, Ampon Sae Her, Tamir Gonen
wiley   +1 more source

Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories. [PDF]

, 2016
Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterised by dystonia, parkinsonism and spasticity. Iron accumulates in the basal ganglia and may be accompanied by Lewy bodies, axonal swellings and hyperphosphorylated ...
Adibhatla, Aghajanian, Alazami, Alderson, Andrews, Balboa, Balsinde, Barbeito, Beck, Bosveld, Bras, Bras, Breus, Brissot, Broekemeier, Brunetti, Burn, Campanella, Chen, Cozzi, Crichton, Cui, Curtis, Dall'Armi, Daugherty, Davis, Deas, Dehay, Deng, Deschauer, Di Fonzo, Dick, Duran, Dusi, Eckhardt, Edvardson, Elbaz-Alon, Engel, Friedman, Fukunaga, Gadd, Gitler, Gonzalez-Cuyar, Green, Gregory, Gregory, Grünewald, Haack, Hailey, Hallgren, Hama, Hamasaki, Hartig, Hartig, Hayflick, Hayflick, Hill, Hogarth, Hong, Hortnagel, Houlden, Hönscher, Itoh, Iuso, Jana, Jenkins, Jeong, Jiang, Jin, Kaneko, Keller, Keogh, Kondo, Kono, Kotzbauer, Kruer, Kruer, Kruer, Kruer, Kurz, Kühlbrandt, Landouré, Larsson, Lei, Leonardi, Leoni, Levi, Li, Liou, Lu, Maday, Mahadevan, Malik, Mancuso, Manjithaya, Mariño, McNeill, Moreno, Morgan, Morita, Nemazanyy, Nousbeck, Oide, Ong, Paisan-Ruiz, Paisán-Ruiz, Park, Perry, Pivtoraiko, Poli, Polishchuk, Potter, Proikas-Cezanne, Ramirez, Ramonet, Rana, Riku, Ross, Ross, Rouault, Rouault, Roy, Saitsu, Scherz-Shouval, Schmidt, Schneider, Schneider, Seleznev, Shinzawa, Siudeja, Song, Strokin, Strokin, Tan, Tooze, Tsunemi, Usenovic, Vidal, Walia, Williams, Wu, Xu, Yadrick, Yang, Yoshida, Yoshida, Zhang, Zhou, Zorzi   +148 more
core   +1 more source

Types and Genetic Evaluation of Lysosomal Storage Diseases in Kurdistan Region

مجلة الكوفة الطبية
Background and objectives: Lysosomal storage diseases are a set of single-gene disorders that is attributed to insufficient certain lysosomal hydrolase activity or non-enzymatic proteins vital for typical lysosomal functions.
Lana Ahmed Mohammed
doaj   +1 more source