Results 101 to 110 of about 249,586 (383)

The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype

Orphanet Journal of Rare Diseases, 2019
Background The phenotypic spectrum of many rare disorders is much wider than previously considered. Mucopolysaccharidosis type III (Sanfilippo syndrome, MPS III), is a lysosomal storage disorder traditionally considered to be characterized by childhood ...
Stephanie C. M. Nijmeijer, L. Ingeborg van den Born, Anneke J. A. Kievit, Karolina M. Stepien, Janneke Langendonk, Jan Pieter Marchal, Susanne Roosing, Frits A. Wijburg, Margreet A. E. M. Wagenmakers   +8 more
doaj   +1 more source

Characterization of WAC interactions with R2TP and TTT chaperone complexes linking glucose and glutamine availability to mTORC1 activity

FEBS Open Bio, EarlyView.
TTT and R2TP chaperone complexes are required for the assembly and activation of mTORC1. WAC directly interacts with components of TTT, R2TP, and mTORC1, and these interactions are affected by the availability of glucose and glutamine, correlating with changes in mTORC1 activity.
Sofía Cabezudo, Natalia Cuervo, Carmen García‐Martín, Andrés López‐Perrote, Clara Reglero, Adrián Maqueda‐Real, Ana González‐Corpas, Marina Serna, Diego Megías, Alejo Efeyan, Solip Park, Oscar Llorca   +11 more
wiley   +1 more source

Cytosolic Glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease [PDF]

, 2019
A new paradigm for Niemann-Pick C disease is presented where lysosomal storage leads to a deficit in cytoplasmic glucosylceramide (GlcCer) where it performs important functions.
Bhardwaj, Meenakshi, Haberkant, Per, Schmid, Ralf, Sillence, Daniel J., Tongue, Paige, Wheeler, S.   +5 more
core   +1 more source

Lysosomal Adaptation: How the Lysosome Responds to External Cues [PDF]

Cold Spring Harbor Perspectives in Biology, 2014
Recent evidence indicates that the importance of the lysosome in cell metabolism and organism physiology goes far beyond the simple disposal of cellular garbage. This dynamic organelle is situated at the crossroad of the most important cellular pathways and is involved in sensing, signaling, and transcriptional mechanisms that respond to environmental ...
SETTEMBRE, CARMINE, BALLABIO, ANDREA
openaire   +4 more sources

SNX8 enables lysosome reformation and reverses lysosomal storage disorder

Nature Communications
Lysosomal Storage Disorders (LSDs), which share common phenotypes, including enlarged lysosomes and defective lysosomal storage, are caused by mutations in lysosome-related genes.
Xinran Li, Cong Xiang, Shilei Zhu, Jiansheng Guo, Chang Liu, Ailian Wang, Jin Cao, Yan Lu, Dante Neculai, Pinglong Xu, Xin-Hua Feng   +10 more
doaj   +1 more source

Ro 31‐8220 suppresses bladder cancer progression via enhancing autophagy in vitro and in vivo

FEBS Open Bio, EarlyView.
The pan‐protein kinase C inhibitor Ro‐31‐8220 demonstrates potent anti‐bladder cancer effects both in vitro and in vivo by suppressing migration/invasion, inducing apoptosis and crucially activating autophagy, where blocking autophagy with chloroquine reduces its cell‐killing efficacy, suggesting its promise as a novel therapeutic candidate requiring ...
Shengjun Fu, Yan Tao, Shan Wu, Yuwen Gong, Youli Zhao, Shaomin Niu, Hui Cheng, You Mu, Na Xu, Ying Wang, Jianzhong Lu, Shanhui Liu, Lanlan Li   +12 more
wiley   +1 more source

Covalent targeting of the vacuolar H+-ATPase activates autophagy via mTORC1 inhibition. [PDF]

, 2019
Autophagy is a lysosomal degradation pathway that eliminates aggregated proteins and damaged organelles to maintain cellular homeostasis. A major route for activating autophagy involves inhibition of the mTORC1 kinase, but current mTORC1-targeting ...
Berdan, Charles A, Chung, Clive Yik-Sham, Ford, Breanna, Nomura, Daniel K, Olzmann, James A, Shin, Hijai R, Ward, Carl C, Zoncu, Roberto   +7 more
core  

Most autophagic cell death studies lack evidence of causality

FEBS Open Bio, EarlyView.
Of 104 studies claiming autophagic cell death (ACD), only 13 demonstrated both causality and exclusion of apoptosis to confirm true ACD. Most studies relied on correlation‐level data or measured autophagy in isolation, revealing pervasive methodological shortcomings.
Ali Burak Özkaya, Yasmin Ghaseminejad
wiley   +1 more source

Report on the 2nd MObility for Vesicle research in Europe (MOVE) symposium—2024

FEBS Open Bio, EarlyView.
The 2nd MObility for Vesicle research in Europe (MOVE) Symposium in Belgrade brought over 280 attendees from 28 countries to advance extracellular vesicle (EV) research. Featuring keynotes, presentations, and industry sessions, it covered EV biogenesis, biomarkers, therapies, and manufacturing.
Dorival Mendes Rodrigues‐Junior, Michaela Kocholata, Marilena E. Lekka, Olga Janouskova, Moran Yadid, Maja Kosanovic   +5 more
wiley   +1 more source

Vomocytosis: Too Much Booze, Base, or Calcium? [PDF]

, 2019
Macrophages are well known for their phagocytic activity and their role in innate immune responses. Macrophages eat non-self particles, via a variety of mechanisms, and typically break down internalized cargo into small macromolecules.
Aaron, Alvarez, Alvarez, Artavanis-Tsakonas, Bain, Ben-Abdallah, Bielska, Blackstock, Boya, Bryan, Burch, Chang, Charlier, Chen, Cheng, Chu, Circu, Cox, Davis, De Leon-Rodriguez, De Leon-Rodriguez, Denham, Di, Diamond, Doshi, Dragotakes, Drew, Erb-Downward, Erwig, Evans, Feldmesser, Franchi, Fu, Gilbert, Gordon, Guerra, Gustafson, Haka, Han, Henson, Heo, Hibbs, Hoag, Hommel, Huang, Hybiske, Iwasaki, Johnston, Kjos, Kleinschek, Kruskal, Kusner, Lei, Leopold Wager, Levitz, Levitz, Lim, Liu, Lévêque, Ma, Maderna, May, Milam, Mosser, Murdock, Murray, Myers, Müller, Nel, Nicola, Nunes, Okagaki, O’Meara, Pauwels, Qiu, Rajasingham, Russell, Samantaray, Santiago-Tirado, Singh, Smith, Stukes, Stukes, Swisher, Tucker, Vashi, Voelz, Vu, Vu, Walkey, Wang, Wang, Watkins, Weiss, Wormley, Wozniak, Yates, Yoshida, Zaragoza   +98 more
core   +2 more sources