Results 121 to 130 of about 25,002 (280)

TRPML and lysosomal function

, 2007
Mucolipin 1 (MLN1), also known as TRPML1, is a member of the mucolipin family. The mucolipins are the only lysosomal proteins within the TRP superfamily. Mutations in the gene coding for TRPML1 result in a lysosomal storage disorder (LSD).
Frumkin, Ayala, Bach, Gideon, Zeevi, David A.   +2 more
core   +1 more source

Deficiency in NPC2 results in disruption of mitochondria-late endosome/lysosomes contact sites and endo-lysosomal lipid dyshomeostasis

Scientific Reports
Dysfunction of the endo-lysosomal intracellular Cholesterol transporter 2 protein (NPC2) leads to the onset of Niemann–Pick Disease Type C (NPC), a lysosomal storage disorder.
Raffaele Pastore, Lihang Yao, Nathan Hatcher, Martin Helley, Janet Brownlees, Radha Desai   +5 more
doaj   +1 more source

Genomic expression analyses reveal lysosomal, innate immunity proteins, as disease correlates in murine models of a lysosomal storage disorder.

, 2012
Niemann-Pick Type C (NPC) disease is a rare, genetic, lysosomal disorder with progressive neurodegeneration. Poor understanding of the pathophysiology and a lack of blood-based diagnostic markers are major hurdles in the treatment and management of NPC ...
Michelle Getz (125640), Kasturi Haldar (49006), Velázquez, Peter, Getz, Michelle, Pamela Tamez, Michelle Getz, Jenny Shin (125643), Tamez, Pamela, Pamela Tamez (48996), Sue Yi, Kasturi Haldar, Yi, Sue, Haldar, Kasturi, Alam, Md. Suhail, Innocent Safeukui (47725), Shin, Jenny, Jenny Shin, Innocent Safeukui, Md. Suhail Alam (125639), Sue Yi (125641), Md Suhail Alam, Peter Velázquez, Peter Velázquez (125645), Safeukui, Innocent   +23 more
core   +1 more source

Therapeutic Applications of Stimuli‐Based Release and Engineering of Extracellular Vesicles

Advanced NanoBiomed Research, EarlyView.
This review summarizes the effects of endogenous and exogenous stimuli, their effects on the natural release of extracellular vesicles, as well as their uptake and release. It also gives an overview of stimuli‐responsive EVs and their therapeutic applications. Extracellular vesicles (EVs), nano‐ to microsized lipid bilayer membrane‐bound particles, are
Gloria Kemunto, Kristen Dellinger
wiley   +1 more source

Relationship of Lysosomal Storage Diseases (LSD) with Autophagy

, 1986
Lysosomes are organelles that degrade damaged components or structures that have completed their functions and have roles in the last step of the autophagy pathway. Damage of the autophagy-lysosome pathway can cause vital problems for the cell. Lysosomal
Orbak, Zerrin, Alkaç, İsmail Mert, Gökkuş, Fikret, Burcu Çerçi, Seda Keskin, Keskin, Seda, İsmail Mert Alkaç, Çerçi, Burcu   +7 more
core   +2 more sources

Application of magnetic chromatography to the isolation of lysosomes from fibroblasts of patients with lysosomal storage disorders

, 1998
A method for the purification of lysosomes from fibroblasts has been developed which uses endocytosis of superparamagnetic colloidal iron dextran particles followed by separation of the iron-containing lysosomes in a magnetic field.
Andrew W Johnson, Hasilik, Andrej, Winchester, Bryan G, Andrej Hasilik, Ole Diettrich, Bryan G Winchester, Mills, Kevin, Johnson, Andrew W, Diettrich, Ole, Kevin Mills   +9 more
core   +1 more source

Infusion rate adjustment in enzyme replacement therapy with pabinafusp alfa for mucopolysaccharidosis II

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aims Enzyme replacement therapy (ERT) for mucopolysaccharidosis II (MPS II) requires long‐term, weekly intravenous infusions often lasting over 3 h each time, which can burden paediatric patients and caregivers and negatively affect their quality of life and treatment compliance.
Kimitoshi Nakamura, Norio Sakai, Hideaki Hirai, Naoko Takasao, Ryo Ibaraki, Tatsuyoshi Yamamoto, Yuji Sato   +6 more
wiley   +1 more source

MAN2B1 in immune system-related diseases, neurodegenerative disorders and cancers: functions beyond α-mannosidosis

Expert Reviews in Molecular Medicine
Glycosylation modifications of proteins and glycan hydrolysis are critical for protein function in biological processes. Aberrations in glycosylation enzymes are linked to lysosomal storage disorders (LSDs), immune interactions, congenital disorders and ...
Yuwen Han, Yuanshuai Zhou, Jinlin Pan, Minxuan Sun, Jiao Yang   +4 more
doaj   +1 more source

Seven-year follow-up of durability and safety of AAV CNS gene therapy for a lysosomal storage disorder in a large animal. [PDF]

Mol Ther Methods Clin Dev, 2021
Marcó S, Haurigot V, Jaén ML, Ribera A, Sánchez V, Molas M, Garcia M, León X, Roca C, Sánchez X, Bertolin J, Pérez J, Elias G, Navarro M, Carretero A, Pumarola M, Andaluz A, Espada Y, Añor S, Bosch F.   +19 more
europepmc   +1 more source

Overcoming intranasal delivery barriers with ultrastable polyzwitterionic siRNA nanocages for enhanced glioblastoma therapy

BMEMat, EarlyView.
A ROS‐responsive, zwitterionic nanocage enables stable, intranasal siRNA delivery to glioblastoma, promoting deep tumor penetration via non‐degradative pathways and trigeminal nerve transport. This platform achieves durable gene silencing and tumor suppression, offering a non‐invasive, storage‐stable strategy for treating glioma and other neurological ...
Jingwen Xie, Jingxing Si, Xiaobei Deng, Jing Tan, Ruijie Zhu, Jizhou Qi, Gaoxia Ma, Bin Wang, Yi Wang, Yunzhou Guo, Yuping Chen, Shiqun Shao, Youqing Shen   +12 more
wiley   +1 more source