Results 81 to 90 of about 10,389 (214)

Modeling Parkinson’s Disease in Drosophila: What Have We Learned for Dominant Traits?

Frontiers in Neurology, 2018
Parkinson’s disease (PD) is recognized as the second most common neurodegenerative disorder after Alzheimer’s disease. Unfortunately, there is no cure or proven disease modifying therapy for PD.
Yulan Xiong, Jianzhong Yu
doaj   +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

N-Guanidino Derivatives of 1,5-Dideoxy-1,5-imino-d-xylitol are Potent, Selective, and Stable Inhibitors of β-Glucocerebrosidase [PDF]

, 2017
A series of lipidated guanidino and urea derivatives of 1,5-dideoxy-1,5-imino-d-xylitol were prepared from d-xylose using a concise synthetic protocol.
Afd Chemical Biology and Drug Discovery, Linda Quarles van Ufford, van Ufford, Linda Quarles, Chemical Biology and Drug Discovery, Šrot, L., Jakob Rihter, Moret, Ed E, Šrot, Luka, Sevsek, Alen, Čelan, M., Pieters, R.J., Čelan, Maša, Moret, E.E., Nathaniel I. Martin, Maša Čelan, Roland J. Pieters, Martin, Nathaniel I, Martin, N.I., Luka Šrot, Sevšek, A., Quarles Ufford, L. van, Alen Sevšek, Rihter, J., Ed E. Moret, Rihter, Jakob, Pieters, Roland J   +25 more
core   +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

Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland

Frontiers in Neurology, 2020
Multiple studies implicate heterozygous GBA mutations as a major genetic risk factor for Parkinson's disease (PD); however, the frequency of mutations has never been examined in PD patients from the Irish population.
Diana A. Olszewska, Diana A. Olszewska, Diana A. Olszewska, Allan McCarthy, Allan McCarthy, Alexandra I. Soto-Beasley, Ronald L. Walton, Brian Magennis, Russell L. McLaughlin, Orla Hardiman, Orla Hardiman, Owen A. Ross, Owen A. Ross, Owen A. Ross, Tim Lynch, Tim Lynch   +15 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

Glucocerebrosidase Cleaves a Linkage within Glucosylceramide, a Normal Intermediate in Glycolipid Metabolism

, 2013
Glucocerebrosidase Cleaves a Linkage within Glucosylceramide, a Normal Intermediate in Glycolipid ...
Ernest Beutler (5254)
core   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, Volume 13, Issue 10, Page 2379-2394, October 2026.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria

, 2023
β-Glucocerebrosidase (GCase) mutations lead to glucosylceramide build-up in the lysosome, impacting α-synuclein aggregation and autophagy. Recently, Baden and colleagues found GCase in mitochondria, supporting mitochondrial complex I function and energy ...
Outeiro, Tiago Fleming, Klein, Andrés D., KLEIN, ANDRES   +2 more
core   +1 more source

Applying a Pareto‐Based Efficiency Frontier to Inform Value‐Based Pricing for Gaucher Disease Therapies in Brazil

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 10, October 2026.
ABSTRACT Purpose Gaucher disease (GD) requires lifelong high‐cost treatment within the Brazilian Unified Health System (SUS). In Brazil, treatment eligibility and monitoring are defined by Clinical Protocol and Therapeutic Guidelines (PCDT), while pharmaceutical prices are regulated by the Drug Market Regulation Chamber (CMED).
Marcus Carvalho Borin, Ludmila Peres Gargano, Francisco de Assis Acurcio, Juliana Álvares‐Teodoro, Augusto Afonso Guerra Junior   +4 more
wiley   +1 more source