Results 31 to 40 of about 2,195 (134)

Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria

Nature Communications, 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 ...
Andrés D. Klein, Tiago Fleming Outeiro
doaj   +1 more source

Ferritin as a Nanoparticle Scaffold for Plant‐Produced Next‐Generation Subunit Vaccines

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Protein nanoparticles offer an innovative approach to next‐generation subunit vaccine development by displaying antigenic sequences on the nanoparticle surface. Compared to traditional subunit vaccines, protein nanoparticle vaccines often show improved interaction with the immune system due to their particulate size and repetitive epitope ...
Jordan T. VanderBurgt, Richard Strasser, Christopher P. Garnham, Rima Menassa   +3 more
wiley   +1 more source

PATIENTS AT RISK OF THEIR ETHNIC BACKGROUND [PDF]

Romanian Journal of Pediatrics, 2009
This article discuss genetic disorders that appear with increased frequency in certain ethnic groups: – Ashkenazi jews: Tay-Sachs disease, adult Gaucher’s disease – type I, Niemann-Pick disease, mucolipidosis (type IV), pentosuria, Bloom syndrome ...
Valeriu Popescu
doaj   +1 more source

Chemical engineering as an essential element of industrial biotechnology in Mexico: New aims in research and university education

The Canadian Journal of Chemical Engineering, EarlyView.
Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía, Octavio T. Ramírez, Rafael Vazquez‐Duhalt, Eduardo Bárzana   +3 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Inhibition of microglial β-glucocerebrosidase hampers the microglia-mediated antioxidant and protective response in neurons

Journal of Neuroinflammation, 2021
Background Homozygotic mutations in the GBA gene cause Gaucher’s disease; moreover, both patients and heterozygotic carriers have been associated with 20- to 30-fold increased risk of developing Parkinson’s disease. In homozygosis, these mutations impair
Electra Brunialti, Alessandro Villa, Marianna Mekhaeil, Federica Mornata, Elisabetta Vegeto, Adriana Maggi, Donato A. Di Monte, Paolo Ciana   +7 more
doaj   +1 more source

Gaucheroma of Mesenteric Lymph Nodes and Their Ultrasound Appearance: A Case Report

Journal of the Belgian Society of Radiology, 2023
Gaucher disease represents the largest lysosomal storage disease group worldwide. Possible complications include the development of Gaucheromas, pseudotumors resulting from an accumulation of Gaucher cells. Gaucheromas can affect the liver, spleen, bones,
Thomas Saliba, Paolo Simoni, Aurélie Empain, Alessandro De Leucio   +3 more
doaj   +1 more source

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

Movement Disorders Clinical Practice, EarlyView.
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

Associations of Monocyte Glucocerebrosidase with Cognition and Cholinergic Innervation in GBA1 Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase). Parkinson's disease (PD) patients carrying a GBA1 variant (GBA‐PD) exhibit faster cognitive decline, linked to cholinergic degeneration. Objectives The aim was to investigate whether GCase activity, measured in monocytes, correlates with cognitive dysfunction or ...
Sofie Slingerland, Sygrid van der Zee, Sven C.D. van Ijzendoorn, Anne C. Slomp, Jeffrey M. Boertien, Sanne K. Meles, Arjan Kol, Marie Geerlings, Teus van Laar   +8 more
wiley   +1 more source

Particularities in the surgical management of a pathological femoral fracture related to type I Gaucher disease

Journal of Orthopaedic Reports, 2023
Background: Gaucher disease (GD) is a rare condition commonly associated with skeletal symptoms. At the advanced stage, it can lead to aseptic bone necrosis (AVN) and pathological fractures.
Sadougui mohammed, bouziane walid, Lamhaoui abdessamad, Yahyaoui mounir, Agoumi omar, Daoudi abdelkrim   +5 more
doaj   +1 more source