Results 61 to 70 of about 14,130 (212)

Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models [PDF]

, 2016
GBA gene mutations are the greatest cause of Parkinson disease (PD). GBA encodes the lysosomal enzyme glucocerebrosidase (GCase) but the mechanisms by which loss of GCase contributes to PD remain unclear.
Beavan, M, Chau, K-Y, Gegg, ME, Sanchez-Martinez, A, Schapira, AHV, Whitworth, AJ   +5 more
core   +1 more source

Nanomaterial‐based immune therapeutic strategies in neurodegenerative diseases

BMEMat, EarlyView.
This review highlights the immunomodulatory potential of nanomaterials (NMs) in treating neurodegenerative diseases (NDs). It focuses on their roles in regulating innate and adaptive immune responses to maintain immune homeostasis. By providing insights into these mechanisms, the review lays the groundwork for innovative NMs therapeutic strategies to ...
Xinru Zhou, Jia Liu, Shulin Lai, Suhan Yin, Bingmin Luo, Longquan Shao, Yiyuan Kang   +6 more
wiley   +1 more source

GBA1 inactivation in oligodendrocytes affects myelination and induces neurodegenerative hallmarks and lipid dyshomeostasis in mice

Molecular Neurodegeneration
Background Mutations in the β-glucocerebrosidase (GBA1) gene do cause the lysosomal storage Gaucher disease (GD) and are among the most frequent genetic risk factors for Parkinson’s disease (PD).
Ilaria Gregorio, Loris Russo, Enrica Torretta, Pietro Barbacini, Gabriella Contarini, Giada Pacinelli, Dario Bizzotto, Manuela Moriggi, Paola Braghetta, Francesco Papaleo, Cecilia Gelfi, Enrico Moro, Matilde Cescon   +12 more
doaj   +1 more source

Targeted delivery of lysosomal enzymes to the endocytic compartment in human cells using engineered extracellular vesicles. [PDF]

, 2019
Targeted delivery of lysosomal enzymes to the endocytic compartment of human cells represents a transformative technology for treating a large family of lysosomal storage diseases (LSDs).
Brown, Annie, Do, Mai Anh, Levy, Daniel, Lu, Biao, Marriott, Gerard   +4 more
core   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Glucocerebrosidase and Parkinson disease: Recent advances [PDF]

Molecular and Cellular Neuroscience, 2015
Mutations of the glucocerebrosidase (GBA) gene are the most important risk factor yet discovered for Parkinson disease (PD). Homozygous GBA mutations result in Gaucher disease (GD), a lysosomal storage disorder. Heterozygous mutations have not until recently been thought to be associated with any pathological process.
openaire   +2 more sources

Glucocerebrosidase Gene Mutations [PDF]

Archives of Neurology, 2008
Mutations in the glucocerebrosidase (GBA) gene have been reported to modify risk for Parkinson disease (PD) and dementia with Lewy bodies (DLB). However, these findings have not been consistently replicated, and most studies have had substantial methodological shortcomings.To better assess the role of GBA variants in altering risk for Lewy body ...
Ignacio F, Mata, Ali, Samii, Seth H, Schneer, John W, Roberts, Alida, Griffith, Berta C, Leis, Gerard D, Schellenberg, Ellen, Sidransky, Thomas D, Bird, James B, Leverenz, Debby, Tsuang, Cyrus P, Zabetian   +11 more
openaire   +2 more sources

Gaucher’s Disease – current state of knowledge and future perspectives?

Journal of Education, Health and Sport
Introduction and purpose: Gaucher's Disease (GD), a rare genetic disorder, is a difficult challenge in genetic and metabolic disorders. The aim of this review is to provide an exploration of GD, spanning its pathophysiology to the latest advancements in
Katarzyna Szymańska, Julia Krasnoborska, Sylwia Samojedny, Maciej Superson, Katarzyna Szmyt, Kamil Walczak, Klaudia Wilk-Trytko, Łukasz Zarębski   +7 more
doaj   +1 more source

Effects of ambroxol on the autophagy-lysosome pathway and mitochondria in primary cortical neurons [PDF]

, 2018
Glucocerebrosidase (GBA1) mutations are the major genetic risk factor for Parkinson's Disease (PD). The pathogenic mechanism is still unclear, but alterations in lysosomal-autophagy processes are implicated due to reduction of mutated glucocerebrosidase (
Gegg, ME, Magalhaes, J, Migdalska-Richards, A, Schapira, AH   +3 more
core   +1 more source

Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Deep brain stimulation (DBS) is effective for Parkinson's disease (PD); however, its efficacy varies with genetic background, such as the GBA1 variant—the causative gene of Gaucher disease—associated with increased PD risk and cognitive decline after subthalamic nucleus (STN)‐DBS.
Hikaru Kamo, Genko Oyama, Mai Shimizu, Haruka Takeshige‐Amano, Takashi Ogawa, Wataru Sako, Noriko Nishikawa, Taku Hatano, Yuanzhe Li, Hiroyo Yoshino, Manabu Funayama, Masanobu Ito, Hirokazu Iwamuro, Atsushi Umemura, Nobutaka Hattori   +14 more
wiley   +1 more source