Results 81 to 90 of about 14,130 (212)

Autophagic dysregulation triggers innate immune activation in glucocerebrosidase deficiency

Autophagy Reports
Mutations in the GBA1 (glucosylceramidase beta 1) gene cause the most common lysosomal storage disorder, Gaucher disease (GD), characterized by the lysosomal accumulation of glucosylceramide and lysosomal dysfunction.
Magda L. Atilano, Alexander J. Hull, Kerri J. Kinghorn   +2 more
doaj   +1 more source

Autophagic- and Lysosomal-Related Biomarkers for Parkinson’s Disease: Lights and Shadows

Cells, 2019
Parkinson’s disease (PD) is a neurodegenerative disorder that currently affects 1% of the population over the age of 60 years, for which no disease-modifying treatments exist.
Helena Xicoy, Núria Peñuelas, Miquel Vila, Ariadna Laguna   +3 more
doaj   +1 more source

Longitudinal evaluation of olfactory function in individuals with Gaucher disease and GBA1 mutation carriers with and without Parkinson's disease

Frontiers in Neurology, 2022
ObjectiveBiallelic mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase, cause the lysosomal storage disorder Gaucher disease (GD).
Grisel J. Lopez, Jens Lichtenberg, Nahid Tayebi, Emory Ryan, Abigail L. Lecker, Ellen Sidransky   +5 more
doaj   +1 more source

A 1-acetamido derivative of 6-epi-valienamine: an inhibitor of a diverse group of β-N-acetylglucosaminidases [PDF]

, 2007
The synthesis of an analogue of 6-epi-valienamine bearing an acetamido group and its characterisation as an inhibitor of β-N-acetylglucosaminidases are described.
Adrian Scaffidi, Backvall, Bailey, Beer, Chen, Chretien, David J. Vocadlo, Davies, Davies, Dennis, Dong, Dorfmueller, Edward J. Taylor, Emsley, Esnouf, Fairweather, Gideon J. Davies, Horsch, Junge, Kappes, Keith A. Stubbs, Knapp, Kraulis, Legler, Lin, Liu, Liu, Macauley, Mark, Money, Murshudov, Namiki, Nicotra, Ogawa, Rana, Rao, Rebecca J. Dennis, Robert V. Stick, Salleh, Scaffidi, Shanmugasundaram, Shitara, Sigurskjold, Stubbs, Stubbs, Svensson, Tanaka, Terinek, Tews, Vocadlo   +49 more
core   +1 more source

Parkinson's‐Linked LRRK2 and GBA1 Mutations Modulate the Peripheral Immune Response to Pseudomonas aeruginosa

Movement Disorders, EarlyView.
Abstract Background Peripheral disease mechanisms such as immune dysregulation may contribute to Parkinson's disease (PD). To investigate interactions between common PD mutations and immune responses to environmental pathogens, we studied responses to Pseudomonas aeruginosa (P.
Julian R. Mark, Hannah A. Staley, Ann M. Titus, Julian Agin‐Liebes, Alicia Garrido, Laura Hughes, Nicolas Dzamko, Rebecca L. Wallings, Malú Gámez Tansey   +8 more
wiley   +1 more source

Gaucher disease and the synucleinopathies: refining the relationship

Orphanet Journal of Rare Diseases, 2012
Gaucher disease (OMIM 230800, 230900, 231000), the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. Gaucher patients display a wide spectrum of clinical presentation, with hepatosplenomegaly, haematological
Campbell Tessa N, Choy Francis YM
doaj   +1 more source

Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders

Biomedicines, 2022
We describe the clinical and neuropathologic features of patients with Lewy body spectrum disorder (LBSD) carrying a nonsense variant, c.604C>T; p.R202X, in the glucocerebrosidase 1 (GBA) gene.
Valerio Napolioni, Carolyn A. Fredericks, Yongha Kim, Divya Channappa, Raiyan R. Khan, Lily H. Kim, Faria Zafar, Julien Couthouis, Guido A. Davidzon, Elizabeth C. Mormino, Aaron D. Gitler, Thomas J. Montine, Birgitt Schüle, Michael D. Greicius   +13 more
doaj   +1 more source

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility

Movement Disorders, EarlyView.
Abstract Background GBA1 variants cause Gaucher's disease (GD) in biallelic forms and increase Parkinson's disease (PD) risk in heterozygous carriers. Carriers of mild or severe variants (causing GD type 1 or types 2–3) can enroll in clinical trials, whereas those with GBA1 variants classified as unknown are typically excluded.
Sitki Cem Parlar, Yoomin Lee, Ziv Gan‐Or   +2 more
wiley   +1 more source

The Genetic Basis of Cognitive Impairment and Dementia in Parkinson's Disease. [PDF]

, 2016
Cognitive dysfunction is a common feature of Parkinson's disease (PD) with mild cognitive impairment affecting around a quarter of patients in the early stages of their disease, and approximately half developing dementia by 10 years from diagnosis ...
Collins, Lucy M, Williams-Gray, Caroline H   +1 more
core   +2 more sources

Focused Ultrasound for the Treatment of Circuit and Molecular Pathology in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Focused ultrasound is rapidly emerging as a novel technology for the development of symptomatic therapies and supporting disease‐modifying treatments for Parkinson's disease (PD). At the forefront of this development is thermoablation using high‐intensity focused ultrasound, an incisionless treatment that has been extensively tested in ...
Rikke Hahn Kofoed, Victor Schwartz Hvingelby, Jose A. Pineda‐Pardo, Javier Blesa, Steffen Paschen, Anurag Tandon, Juho Joutsa, Andreas Nørgaard Glud   +7 more
wiley   +1 more source