Results 11 to 20 of about 940,251 (149)

Did α-Synuclein and Glucocerebrosidase Coevolve? Implications for Parkinson's Disease. [PDF]

PLoS ONE, 2015
Mutations in the GBA1 gene are associated with increased risk of Parkinson's disease, and the protein produced by the gene, glucocerebrosidase, interacts with α-synuclein, the protein at the center of the disease etiology.
James M Gruschus
doaj   +2 more sources

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   +2 more sources

Human glucocerebrosidase mediates formation of xylosyl-cholesterol by β-xylosidase and transxylosidase reactions [PDF]

Journal of Lipid Research, 2021
: Deficiency of glucocerebrosidase (GBA), a lysosomal β-glucosidase, causes Gaucher disease. The enzyme hydrolyzes β-glucosidic substrates and transglucosylates cholesterol to cholesterol-β-glucoside.
Daphne E. Boer, Mina Mirzaian, Maria J. Ferraz, Kimberley C. Zwiers, Merel V. Baks, Marc D. Hazeu, Roelof Ottenhoff, André R.A. Marques, Rianne Meijer, Jonathan C.P. Roos, Timothy M. Cox, Rolf G. Boot, Navraj Pannu, Herman S. Overkleeft, Marta Artola, Johannes M. Aerts   +15 more
doaj   +5 more sources

Identification of Rice Koji Extract Components that Increase β-Glucocerebrosidase Levels in Human Epidermal Keratinocytes [PDF]

Foods, 2018
Rice miso contains many ingredients derived from rice koji and has been a valuable source of nutrition since ancient times. We found that the consumption of rice miso led to improvements in the moisture content of cheek stratum corneum, skin ...
Kazuhisa Maeda, Yuuka Ogino, Ayano Nakamura, Keiji Nakata, Manabu Kitagawa, Seiki Ito   +5 more
doaj   +2 more sources

Lipids regulate the hydrolysis of membrane bound glucosylceramide by lysosomal β-glucocerebrosidase [PDF]

Journal of Lipid Research, 2017
Glucosylceramide (GlcCer) is the primary storage lipid in the lysosomes of Gaucher patients and a secondary one in Niemann-Pick disease types A, B, and C.
Misbaudeen Abdul-Hammed, Bernadette Breiden, Günter Schwarzmann, Konrad Sandhoff   +3 more
doaj   +2 more sources

Cryo-TEM structure of β-glucocerebrosidase in complex with its transporter LIMP-2 [PDF]

Nature Communications
Targeting proteins to their final cellular destination requires transport mechanisms and nearly all lysosomal enzymes reach the lysosome via the mannose-6-phosphate receptor pathway.
Jan Philipp Dobert, Jan-Hannes Schäfer, Thomas Dal Maso, Priyadarshini Ravindran, Dustin J. E. Huard, Eileen Socher, Lisa A. Schildmeyer, Raquel L. Lieberman, Wim Versées, Arne Moeller, Friederike Zunke, Philipp Arnold   +11 more
doaj   +2 more sources

Direct and indirect regulation of β-glucocerebrosidase by the transcription factors USF2 and ONECUT2 [PDF]

npj Parkinson's Disease
Mutations in GBA1 encoding the lysosomal enzyme β-glucocerebrosidase (GCase) are among the most prevalent genetic susceptibility factors for Parkinson’s disease (PD), with 10–30% of carriers developing the disease.
Kathi Ging, Lukas Frick, Johannes Schlachetzki, Andrea Armani, Yanping Zhu, Pierre-André Gilormini, Ashutosh Dhingra, Desirée Böck, Ana Marques, Matthew Deen, Xi Chen, Tetiana Serdiuk, Chiara Trevisan, Stefano Sellitto, Claudio Pisano, Christopher K. Glass, Peter Heutink, Jiang-An Yin, David J. Vocadlo, Adriano Aguzzi   +19 more
doaj   +2 more sources

White matter matters in β-glucocerebrosidase-related pathologies [PDF]

Neural Regeneration Research
Loris Russo, Matilde Cescon
doaj   +2 more sources

Hyssopus officinalis L. (Lamiaceae) Cell Culture Extract Modulates Epidermal Lipid-Related and Differentiation Markers [PDF]

Cells
The skin barrier is essential for maintaining epidermal homeostasis and preventing transepidermal water loss (TEWL). This study investigated the ability of a Hyssopus officinalis cell culture hydroethanolic extract to support epidermal barrier function ...
Annalisa Tito, Eleonora Vardaro, Adriana De Lucia, Danila Falanga, Cristiana De Musis, Antonio Colantuono, Annamaria Cefariello, Lucia Ricci, Giuditta Vitiello, Ilaria Arra, Ritamaria Di Lorenzo, Gianfranco Diretto, Olivia Costantina Demurtas, Maria Sulli, Apostolos Pappas, Giovanni Greco, Sonia Laneri, Maria Gabriella Colucci   +17 more
doaj   +2 more sources

Base and translation of β-glucocerebrosidase and its transporter LIMP-2 in neuropathies [PDF]

Neural Regeneration Research
Philipp Arnold, Friederike Zunke
doaj   +2 more sources