Results 61 to 70 of about 940,251 (149)

Selective Fluorogenic β‑Glucocerebrosidase Substrates for Convenient Analysis of Enzyme Activity in Cell and Tissue Homogenates [PDF]

, 2020
Within mammals, there are often several functionally related glycoside hydrolases, which makes monitoring their activities problematic. This problem is particularly acute for the enzyme β-glucocerebrosidase (GCase), the malfunction of which is a key ...
Gideon J. Davies (367307), David L. Shen (8581515), David J. Vocadlo (325821), Liang Wu (131111), Cameron Proceviat (8581512), Matthew C. Deen (8581509), Xiaoyang Shan (1682482)   +6 more
core   +2 more sources

Engineering of GlcNAc-1-Phosphotransferase for Production of Highly Phosphorylated Lysosomal Enzymes for Enzyme Replacement Therapy

Molecular Therapy: Methods & Clinical Development, 2017
Several lysosomal enzymes currently used for enzyme replacement therapy in patients with lysosomal storage diseases contain very low levels of mannose 6-phosphate, limiting their uptake via mannose 6-phosphate receptors on the surface of the deficient ...
Lin Liu, Wang-Sik Lee, Balraj Doray, Stuart Kornfeld   +3 more
doaj   +1 more source

Challenges in the diagnosis of gaucher disease with multiple splenic lesions

Journal of Applied Hematology, 2023
The progressive nature, multisystem involvement, and delayed diagnosis of Gaucher disease (GD) make it a challenging disorder. Herein, we report the clinical and genetic findings of a patient with GD of Saudi-Arab ethnicity. In this case, a young patient
Ahmad Alshomar
doaj   +1 more source

Longitudinal untargeted metabolomics of cognitive impairment in Parkinson's disease

Alzheimer's &Dementia, Volume 22, Issue 10, October 2026.
Abstract INTRODUCTION Cognitive impairment is a common non‐motor symptom of Parkinson's disease (PD), yet the mechanism remains unclear. METHODS Longitudinal serum samples from PD patients in a community‐based case–control study were profiled, with cognition assessed by the Mini‐Mental State Examination at baseline and follow‐up.
Yuyuan Lin, Yu Yu, Keren Zhang, Irish Del Rosario, Aline Duarte Folle, Elizabeth Rose Mayeda, Dean P. Jones, Douglas I. Walker, Jeff Bronstein, Adrienne M. Keener, Kimberly C. Paul, Beate Ritz   +11 more
wiley   +1 more source

Lysosome sorting of β-glucocerebrosidase by LIMP-2 is targeted by the mannose 6-phosphate receptor [PDF]

, 2016
The integral membrane protein LIMP-2 has been a paradigm for mannose 6-phosphate receptor (MPR) independent lysosomal targeting, binding to β-glucocerebrosidase (β-GCase) and directing it to the lysosome, before dissociating in the late-endosomal ...

core   +1 more source

Metabolic Structure: A Paradigm Revisited in Light of the Fundamental Parameters of Living Systems

BioEssays, Volume 48, Issue 10, October 2026.
Metabolism is redefined as a dynamic thermodynamic field shaped by six fundamental parameters (time, water, entropy, quantum effects, space, and electrostatics) rather than fixed genetic architecture. Case studies from enzyme kinetics to cancer cell differentiation show metabolic states, not structure alone, determine flux and control, and can be ...
Jacques Fantini
wiley   +1 more source

Small Molecule Therapeutic Approaches With a Greater Focus on Hearing Loss: A Review

Health Science Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background and Aims Hearing loss (HL) is one of the most common sensory impairments worldwide and has substantial effects on quality of life and daily functioning. Although cochlear implants and hearing aids have markedly improved the management of hearing impairment, these devices do not directly address the underlying pathogenic mechanisms ...
Maryam Naghinejad, Farzaneh Motallebi, Elaheh Hasani, Moein Kohkalani, Sepideh Parvizpour, Sima Mansoori Derakhshan   +5 more
wiley   +1 more source

Progranulin acts as a shared chaperone and regulates multiple lysosomal enzymes

Genes and Diseases, 2017
Multifunctional factor progranulin (PGRN) plays an important role in lysosomes, and its mutations and insufficiency are associated with lysosomal storage diseases, including neuronal ceroid lipofuscinosis and Gaucher disease (GD).
Jinlong Jian, Aubryanna Hettinghouse, Chuan-ju Liu   +2 more
doaj   +1 more source

Human biomarker navigator

iMeta, Volume 5, Issue 5, October 2026.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Lectin-specific targeting of β-glucocerebrosidase to different liver cells via glycosylated liposomes

, 1985
Galactosylated and mannosylated liposomes were more efficient in transporting liposome-entrapped β-glucocerebrosidase to liver compared to nonglycosylated liposomes.
Zirzow, Gregory C., Brady, Roscoe O., Das, Pijush K., Murray, Gary J., Barranger, John A.   +4 more
core   +1 more source