Results 111 to 120 of about 58,222 (243)

USP35 Acts as a Deubiquitinating Enzyme for ID3 to Promote Immune Escape in Colorectal Cancer

Advanced Science, EarlyView.
USP35 stabilizes ID3 expression by deubiquitinating the K2/K30 site, thereby upregulating PD‐L1 and promoting immune escape in colorectal cancer. IU1, an inhibitor of USP35 enzyme activity, has been shown to inhibit USP35, thereby accelerating ID3 degradation, enhancing CD8+ T cell killing, and reversing the immunosuppressive microenvironment ...
Wenxin Chen, Ling Wang, Hongmei Fan, Lisheng Li, Lingyu Zhang, Ruoxin Li, Fang Liu, Fuli Wen, Yunbin Ye, Chuanzhong Huang   +9 more
wiley   +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

Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation. [PDF]

Mol Ther, 2022
Ahrens-Nicklas RC, Tecedor L, Hall AF, Kane O, Chung RJ, Lysenko E, Marsh ED, Stein CS, Davidson BL.   +8 more
europepmc   +1 more source

Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders [PDF]

, 2011
Carla E. M. Hollak, Johannes M. F. G. Aerts, Ségolène Aymé, Jeremy Manuel   +3 more
openalex   +1 more source

Crossing the Blood–Brain Barrier with Molecularly Imprinted Polymeric Nanocarriers: An Emerging Frontier in Brain Disease Therapy

Advanced Science, EarlyView.
Molecularly imprinted polymeric nanocarriers (nanoMIPs) offer robust, antibody‐mimetic platforms to overcome the blood‐brain barrier. The article surveys nanoMIP design and ligand‐directed surface engineering that harness receptor‐mediated transcytosis, and highlights therapeutic and diagnostic applications in neurodegeneration, brain tumors and ...
Ranjit De, Shuliang Shi, Kyong‐Tai Kim
wiley   +1 more source

A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder. [PDF]

J Inherit Metab Dis, 2022
Hassall S, Smith DM, Rust S, Wittkowski A.   +3 more
europepmc   +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

PRM69 - AN INCREASE OVER TIME IN PUBLISHED REAL-WORLD AND HEALTH ECONOMIC EVIDENCE IN CLINICAL JOURNALS ACROSS LYSOSOMAL STORAGE DISORDERS [PDF]

, 2018
Rosalie Gadiot, M. Friedman, TE Hartog, Yihong Huang, Liina Nevalaita, TP Rouwette, Stefaan Sansen, P Vincendon   +7 more
openalex   +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

Lysosomal storage disorders.

Indian pediatrics, 2004
This study was conducted to assess the variability of clinical expression of Lysosomal storage disorders (LSDs) and the selection of specific enzyme investigation to reach the differential diagnosis. Initially 150 children in the age range of 15 days to 13 years were screened for common metabolic disorder and based on screening results, clinical signs ...
Jayesh, Sheth, Pinaki, Patel, Frenny, Sheth, Raju, Shah   +3 more
openaire   +1 more source