Results 41 to 50 of about 2,132 (150)

TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease

EMBO Molecular Medicine, 2022
Lysosomes are cell organelles that degrade macromolecules to recycle their components. If lysosomal degradative function is impaired, e.g., due to mutations in lysosomal enzymes or membrane proteins, lysosomal storage diseases (LSDs) can develop.
Anna Scotto Rosato, Einar K Krogsaeter, Dawid Jaślan, Carla Abrahamian, Sandro Montefusco, Chiara Soldati, Barbara Spix, Maria Teresa Pizzo, Giuseppina Grieco, Julia Böck, Amanda Wyatt, Daniela Wünkhaus, Marcel Passon, Marc Stieglitz, Marco Keller, Guido Hermey, Sandra Markmann, Doris Gruber‐Schoffnegger, Susan Cotman, Ludger Johannes, Dennis Crusius, Ulrich Boehm, Christian Wahl‐Schott, Martin Biel, Franz Bracher, Elvira De Leonibus, Elena Polishchuk, Diego L Medina, Dominik Paquet, Christian Grimm   +29 more
doaj   +1 more source

TRPML Channels

, 2015
openaire   +2 more sources

Lysosomal Zn2+ release triggers rapid, mitochondria-mediated, non-apoptotic cell death in metastatic melanoma

Cell Reports, 2021
Summary: During tumor progression, lysosome function is often maladaptively upregulated to match the high energy demand required for cancer cell hyper-proliferation and invasion. Here, we report that mucolipin TRP channel 1 (TRPML1), a lysosomal Ca2+ and
Wanlu Du, Mingxue Gu, Meiqin Hu, Prateeksunder Pinchi, Wei Chen, Michael Ryan, Timothy Nold, Ahmed Bannaga, Haoxing Xu   +8 more
doaj   +1 more source

TRPML Proteins

, 2009
openaire   +2 more sources

TRPMLs: in sickness and in health

American Journal of Physiology-Renal Physiology, 2009
TRPML1, TRPML2 and TRPML3 belong to the mucolipin family of the TRP superfamily of ion channels. The founding member of this family, TRPML1, was cloned during the search for the genetic determinants of the lysosomal storage disease mucolipidosis type IV (MLIV).
Rosa, Puertollano, Kirill, Kiselyov
openaire   +3 more sources

TRP channels: Role in neurodegenerative diseases and therapeutic targets

Heliyon, 2023
TRP (Transient receptor potential) channels are integral membrane proteins consisting of a superfamily of cation channels that allow permeability of both monovalent and divalent cations. TRP channels are subdivided into six subfamilies: TRPC, TRPV, TRPM,
Mashoque Ahmad Rather, Andleeb Khan, Lianchun Wang, Sadaf Jahan, Muneeb U. Rehman, Hafiz A. Makeen, Syam Mohan   +6 more
doaj   +1 more source

Estradiol analogs attenuate autophagy, cell migration and invasion by direct and selective inhibition of TRPML1, independent of estrogen receptors

Scientific Reports, 2021
The cation channel TRPML1 is an important regulator of lysosomal function and autophagy. Loss of TRPML1 is associated with neurodegeneration and lysosomal storage disease, while temporary inhibition of this ion channel has been proposed to be beneficial ...
Philipp Rühl, Anna Scotto Rosato, Nicole Urban, Susanne Gerndt, Rachel Tang, Carla Abrahamian, Charlotte Leser, Jiansong Sheng, Archana Jha, Günter Vollmer, Michael Schaefer, Franz Bracher, Christian Grimm   +12 more
doaj   +1 more source

Organellar Zn2+ Homeostasis and the Role of TRPML Channels in Neuronal Lysosome Physiology and Axonal Transport [PDF]

, 2022
Zinc (Zn2+) is crucial for proper cellular function, and as such it is important to measure and track Zn2+ dynamics in living cells. Fluorescent sensors have been used to estimate Zn2+ content of subcellular compartments, but little is known about ...
Minckley, Taylor Franklin
core   +1 more source

Emerging role of transient receptor potential (TRP) ion channels in cardiac fibroblast pathophysiology

Frontiers in Physiology, 2022
Cardiac fibroblasts make up a major proportion of non-excitable cells in the heart and contribute to the cardiac structural integrity and maintenance of the extracellular matrix.
Asfree Gwanyanya, Kanigula Mubagwa, Kanigula Mubagwa   +2 more
doaj   +1 more source

Differential ion selectivity and disease-associated dysfunction of TRPML channels revealed by patient and engineered mutants. [PDF]

J Biol Chem
The endolysosomal transient receptor potential mucolipin (TRPML) channels play key roles in regulating lysosomal trafficking, signaling, and function. While mutations in TRPML1 cause mucolipidosis type IV (MLIV), the functional consequences of many disease-associated mutations remain unclear.
Rue BE, Dischler AM, Salvagio LA, Zhu M, Xu G, Flores PC, Donovan CL, Liu X, Minckley TF, Agulnek B, Qin Y.   +10 more
europepmc   +3 more sources