Results 71 to 80 of about 7,167 (179)

Neurological effects of glucocerebrosidase gene mutations [PDF]

European Journal of Neurology, 2018
The association between Gaucher disease (GD) and Parkinson disease (PD) has been described for almost two decades. In the biallelic state (homozygous or compound heterozygous) mutations in the glucocerebrosidase gene (GBA) may cause GD, in which glucosylceramide, the sphingolipid substrate of the glucocerebrosidase enzyme (GCase), accumulates in ...
Mullin, S., Hughes, D., Mehta, A., Schapira, A. H. V.   +3 more
openaire   +2 more sources

A Systematic Review on Disease‐Modifying Therapies in Parkinsonian Disorders

Clinical Pharmacology &Therapeutics, Volume 120, Issue 2, Page 357-374, August 2026.
Parkinsonian disorders, including Parkinson's disease, Lewy body dementia, multiple system atrophy, and progressive supranuclear palsy, are progressive neurodegenerative conditions with no treatment options to slow disease progression. This systematic review provides an overview of evidence of disease‐modifying therapies that have been evaluated in ...
Pepijn P.N.M. Eijsvogel, Lars M.G. Smits, Philip H.C. Kremer, Geert Jan Groeneveld   +3 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

Crystal structure of endo‐β‐1,6‐galactanase from Streptomyces avermitilis

Acta Crystallographica Section D, Volume 82, Issue 8, Page 962-971, August 2026.
The crystal structure of S. avermitilis endo‐β‐1,6‐galactanase belonging to GH30 subfamily 5 reveals the first structural framework for endo‐β‐1,6‐galactanase. The β‐1,6‐galactobiose‐bound complex identifies the catalytic subsites and a distal secondary sugar‐binding site, providing insight into β‐1,6‐galactan recognition.Endo‐β‐1,6‐galactanases ...
Zui Fujimoto, Naomi Kishine, Toshihisa Kotake, Satoshi Kaneko   +3 more
wiley   +1 more source

Decoding Prodromal Lewy Body Disease: Clinical Differences Between Isolated REM Sleep Behavior Disorder and Hyposmia With Dopamine Transporter Deficit

European Journal of Neurology, Volume 33, Issue 8, August 2026.
Isolated REM sleep behavior disorder (iRBD) [n = 360] and hyposmia with dopamine transporter deficit [n = 1101] represent two enriched prodromal Lewy body disease cohorts. Using data from the Parkinson's Progression Markers Initiative, iRBD was associated with significantly greater autonomic symptom burden than hyposmia, driven by constipation and ...
Luke Vikram Banerjee, Jacopo Pasquini, Robin Henderson, Nicola Pavese, Kirstie N. Anderson   +4 more
wiley   +1 more source

Upcycling Silicon as Heterogeneous Palladium Catalysts: Heck–Cassar Cross‐Coupling in Batch and Flow Conditions

ChemSusChem, Volume 19, Issue 13, 14 July 2026.
Silicon application as a support for Pd Nanoparticle catalysts in Heck–Cassar cross‐coupling under continuous flow. Electronic waste and end‐of‐life photovoltaic modules are positioning silicon as a high‐value material that will increasingly enter the waste stream in the coming years.
Tian Sang, Giulia Brufani, Tommaso Scarabottini, Sofiya Zabelinskaya, Dmitri Gelman, Francesco Mauriello, Luigi Vaccaro   +6 more
wiley   +1 more source

Ceramides in Parkinson’s Disease: From Recent Evidence to New Hypotheses

Frontiers in Neuroscience, 2019
Ceramides (Cer) constitute a class of lipids present in the cell membranes where they act as structural components, but they can also work as signaling molecules.
Nicoletta Plotegher, Luigi Bubacco, Elisa Greggio, Laura Civiero   +3 more
doaj   +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

A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation Carriers

Stem Cell Reports, 2017
Numerically the most important risk factor for the development of Parkinson's disease (PD) is the presence of mutations in the glucocerebrosidase GBA1 gene.
Shi-Yu Yang, Michelle Beavan, Kai-Yin Chau, Jan-Willem Taanman, Anthony H.V. Schapira   +4 more
doaj   +1 more source

A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease

Disease Models & Mechanisms, 2016
Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1.
Wendy Westbroek, Matthew Nguyen, Marina Siebert, Taylor Lindstrom, Robert A. Burnett, Elma Aflaki, Olive Jung, Rafael Tamargo, Jorge L. Rodriguez-Gil, Walter Acosta, An Hendrix, Bahafta Behre, Nahid Tayebi, Hideji Fujiwara, Rohini Sidhu, Benoit Renvoise, Edward I. Ginns, Amalia Dutra, Evgenia Pak, Carole Cramer, Daniel S. Ory, William J. Pavan, Ellen Sidransky   +22 more
doaj   +1 more source