Results 131 to 140 of about 42,400 (289)

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

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

Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease

Neurobiology of Disease
Sandhoff disease, a lysosomal storage disorder, is caused by pathogenic variants in the HEXB gene, resulting in the loss of β-hexosaminidase activity and accumulation of sphingolipids including GM2 ganglioside.
Hongling Zhu, Y. Terry Lee, Colleen Byrnes, Jabili Angina, Danielle A. Springer, Galina Tuymetova, Mari Kono, Cynthia J. Tifft, Richard L. Proia   +8 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

Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder

Rare
Lysosomal free sialic acid storage disorder (FSASD) is a rare, multisystem disease caused by biallelic pathogenic variants in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, sialin.
Marya S. Sabir, Lynne Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl, Marjan Huizing, Frances M. Platt, May Christine V. Malicdan   +8 more
doaj   +1 more source

Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function. [PDF]

, 2019
Oculocutaneous syndromes are often due to mutations in single genes. In some cases, mouse models for these diseases exist in spontaneously occurring mutations, or in mice resulting from forward mutatagenesis screens.
Adissu, Hibret, Berberovic, Zorana, Clary, Dave, Eskandarian, Mohammad, Flenniken, Ann M, International Mouse Phenotyping Consortium, Lloyd, KC Kent, McKerlie, Colin, Moore, Bret A, Moshiri, Ala, Moshiri, Ata S, Murphy, Christopher J, Newbigging, Susan, Nutter, Lauryl MJ, Owen, Celeste, Thomasy, Sara M   +15 more
core  

Overview of Encapsulated Lysine and Methionine and Their Impacts on Transition Cow Performance and Health

Animal Research and One Health, EarlyView.
The transition period in dairy cows, spanning 3 weeks before and after calving, is a critical phase characterized by increased nutrient demands, reduced dry matter intake (DMI), and elevated risk of metabolic disorders such as negative nutrient balance (NNB), lipolysis, proteolysis, and oxidative stress.
Mohammed S. Seleem, Samy A. Elsaadawy, Zhaohai Wu, Lu Ma, Todd R. Callaway, Dengpan Bu   +5 more
wiley   +1 more source

Advancing design strategies in smart stimulus‐responsive liposomes for drug release and nanomedicine

BMEMat, EarlyView.
Schematic illustration of stimulus‐responsive liposomes designed for controlled drug release and nanomedicine. The innermost circle represents different liposomal structures, including unilamellar, multilamellar, and multivesicular liposomes. The middle layer illustrates the responsive phospholipid components.
Yuchen Guo, Nan Li, Daiwei Zhang, Jingya Gu, Zhihuan Liao, Zihao Teng, Xiangfu Du, Peter S. Timashev, Shipeng Chen, Shuaidong Huo   +9 more
wiley   +1 more source

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source