Results 31 to 40 of about 2,368 (129)

Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

Cell & Bioscience, 2022
Background Spastic ataxias (SAs) encompass a group of rare and severe neurodegenerative diseases, characterized by an overlap between ataxia and spastic paraplegia clinical features. They have been associated with pathogenic variants in a number of genes,
Andrea C. Kakouri, Christina Votsi, Anastasis Oulas, Paschalis Nicolaou, Massimo Aureli, Giulia Lunghi, Maura Samarani, Giacomo M. Compagnoni, Sabrina Salani, Alessio Di Fonzo, Thalis Christophides, George A. Tanteles, Eleni Zamba-Papanicolaou, Marios Pantzaris, George M. Spyrou, Kyproula Christodoulou   +15 more
doaj   +1 more source

Amyloid exacerbates tau and alpha‐synuclein pathologies, behavioral impairments, and neuroinflammation in a mixed dementia model

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract INTRODUCTION Neurodegenerative diseases often involve overlapping alpha‐synuclein (asyn), amyloid beta, and tau proteinopathies, yet the mechanisms, impact, and directionality of their interactions remain unclear. METHODS We induced brain‐wide neuronal asyn/tau pathologies via viral expression of wild‐type asyn, mutant asynE46K, mutant ...
Benjamin E. Rabichow, Lacey Nixon, Lauren E. Tallant, Katelin A. Gibson, David G. Nascari, J. Hudson Barnett, Nashali Massa, John D. Fryer   +7 more
wiley   +1 more source

Nuclear dysfunction in aging and neurodegeneration

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract Neurodegenerative diseases are characterized by a loss of neuronal function and structure, often in a region‐specific manner. Multiple factors contribute to neuronal dysfunction and death, including pathogenic protein buildup, protein mislocalization, and inflammation. Despite extensive research, the common mechanisms driving neurodegeneration
Abbigael Aday, Jack Tiller, Adarsh Melukote, Zachary C. Walton, Anna King, Luke Castillo, Rakez Kayed, Mauro Montalbano   +7 more
wiley   +1 more source

Neuroprotective roles of klotho: Molecular pathways and therapeutic implications for cognitive health in neurological and psychiatric diseases

Experimental Physiology, Volume 111, Issue 7, Page 3179-3190, 1 July 2026.
Abstract Klotho, a pleiotropic protein initially identified for its role in kidney function, has garnered significant attention for its neuroprotective properties in various neurodegenerative diseases. It regulates key processes, such as oxidative stress, neuroinflammation, synaptic plasticity and myelination, all crucial for maintaining neuronal ...
Amir Arsalan Ghahari, Leylinaz Safaeihavadaragh, Mehrdad Nourizadeh, Shaghayegh Davari, Saba Safaei, Farshad Zare, Safa Alkayyat, Erfan Kamali Far   +7 more
wiley   +1 more source

Distinguishing the differences in β-glycosylceramidase folds, dynamics, and actions informs therapeutic uses

Journal of Lipid Research, 2018
Glycosyl hydrolases (GHs) are carbohydrate-active enzymes that hydrolyze a specific β-glycosidic bond in glycoconjugate substrates; β-glucosidases degrade glucosylceramide, a ubiquitous glycosphingolipid.
Fredj Ben Bdira, Marta Artola, Herman S. Overkleeft, Marcellus Ubbink, Johannes M.F.G. Aerts   +4 more
doaj   +1 more source

Glucocerebrosidase deficiency promotes protein aggregation through dysregulation of extracellular vesicles. [PDF]

PLoS Genetics, 2018
Mutations in the glucosylceramidase beta (GBA) gene are strongly associated with neurodegenerative diseases marked by protein aggregation. GBA encodes the lysosomal enzyme glucocerebrosidase, which breaks down glucosylceramide.
Ruth E Thomas, Evelyn S Vincow, Gennifer E Merrihew, Michael J MacCoss, Marie Y Davis, Leo J Pallanck   +5 more
doaj   +1 more source

Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family

Genes and Diseases, 2021
The nonlysosomal glucosylceramidase β2 (GBA2) gene encode an enzyme that catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Mutations in the GBA2 gene have been reported to cause hereditary spastic paraplegia, autosomal recessive ...
Hussein Algahtani, Bader Shirah, Ikram Ullah, Mohammad H. Al-Qahtani, Angham Abdulrahman Abdulkareem, Muhammad Imran Naseer   +5 more
doaj   +1 more source

Exercise Intervention for REM Sleep Behavior Disorder in Parkinson's Disease: Mechanisms and Implications for Neurorehabilitation

CNS Neuroscience &Therapeutics, Volume 32, Issue 6, June 2026.
This review systematically explores exercise as a multi‐target intervention for RBD, highlighting its mechanisms of action and regulatory effects on key pathophysiological processes. ABSTRACT Backgrounds REM sleep behavior disorder (RBD) is a prodromal non‐motor symptom of Parkinson's disease (PD) and other α‐synucleinopathies, affecting approximately ...
Xinhui Qiu, Zihui Wang, Ruixue Xu, Yiying Hu, Weidong Le   +4 more
wiley   +1 more source

Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice.

PLoS ONE, 2015
The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly reduced GBA activity is associated with severe manifestations of Gaucher disease including neurological involvement.
André R A Marques, Jan Aten, Roelof Ottenhoff, Cindy P A A van Roomen, Daniela Herrera Moro, Nike Claessen, María Fernanda Vinueza Veloz, Kuikui Zhou, Zhanmin Lin, Mina Mirzaian, Rolf G Boot, Chris I De Zeeuw, Herman S Overkleeft, Yildiz Yildiz, Johannes M F G Aerts   +14 more
doaj   +1 more source

Aspartame Increases the Risk of Pancreatic Ductal Adenocarcinoma

eFood, Volume 7, Issue 3, June 2026.
Aspartame (APM) is a widely used artificial sweetener associated with various health concerns, including potential links to diabetes, cardiovascular diseases, and an increased risk of cancer. A comprehensive approach incorporating data mining, machine learning, network toxicology, molecular docking, molecular dynamics simulations, and clinical sample ...
Jumin Xie, Wei Fang, Zean Song, Zhang Yu, Ying Zhu, Shaoping Liu   +5 more
wiley   +1 more source