Results 31 to 40 of about 14,087 (142)

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia [PDF]

Clinical Neurology and Neurosurgery, 2018
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non-neurological signs (i.e., complicated HSPs).
Coarelli, Giulia, Romano, Silvia, Travaglini, Lorena, Ferraldeschi, Michela, Nicita, Francesco, Spadaro, Maria, Fornasiero, Arianna, Frontali, Marina, Salvetti, Marco, Bertini, Enrico, Ristori, Giovanni   +10 more
openaire   +3 more sources

Proteomic analysis of the zone of degeneration at the mitosis-meiosis transition stage in wild-caught male catshark (Scyliorhinus canicula), correlated with an unusually high-water temperature in the English Channel. [PDF]

J Fish Biol
Abstract In the context of current global change, variations in water temperature are one of the environmental conditions with serious consequences for marine life, including reproductive processes. In the small spotted catshark Scyliorhinus canicula, spermatogenesis occurs in spermatocysts composed of synchronously developing germ cells associated ...
Jeanne F, Pilet S, Heighton S, Bernay B, Sourdaine P.   +4 more
europepmc   +2 more sources

Role of μ-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish

Journal of Lipid Research, 2019
μ-glucosidases [GBA1 (glucocerebrosidase) and GBA2] are ubiquitous essential enzymes. Lysosomal GBA1 and cytosol-facing GBA2 degrade glucosylceramide (GlcCer); GBA1 deficiency causes Gaucher disease, a lysosomal storage disorder characterized by ...
Lindsey T. Lelieveld, Mina Mirzaian, Chi-Lin Kuo, Marta Artola, Maria J. Ferraz, Remco E.A. Peter, Hisako Akiyama, Peter Greimel, Richard J.B.H.N. van den Berg, Herman S. Overkleeft, Rolf G. Boot, Annemarie H. Meijer, Johannes M.F.G. Aerts   +12 more
doaj   +1 more source

Gaucher disease, state of the art and perspectives. [PDF]

J Intern Med
Abstract Knowledge about Gaucher disease (GD), considered a model for rare diseases, has considerably increased since its discovery. The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD.
Camou F, Berger MG.
europepmc   +2 more sources

Assessment of Target Engagement in a First‐in‐Human Trial with Sinbaglustat, an Iminosugar to Treat Lysosomal Storage Disorders

Clinical and Translational Science, 2021
In this first‐in‐human study, the tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of single and multiple oral doses of sinbaglustat, a dual inhibitor of glucosylceramide synthase (GCS) and non‐lysosomal glucosyl ceramidase (GBA2), were ...
Martine Gehin, Meggane Melchior, Richard W.D. Welford, Patricia N. Sidharta, Jasper Dingemanse   +4 more
doaj   +1 more source

Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases[S]

Journal of Lipid Research, 2016
The membrane lipid glucosylceramide (GlcCer) is continuously formed and degraded. Cells express two GlcCer-degrading β-glucosidases, glucocerebrosidase (GBA) and GBA2, located in and outside the lysosome, respectively.
AndréR.A. Marques, Mina Mirzaian, Hisako Akiyama, Patrick Wisse, Maria J. Ferraz, Paulo Gaspar, Karen Ghauharali-van der Vlugt, Rianne Meijer, Pilar Giraldo, Pilar Alfonso, Pilar Irún, Maria Dahl, Stefan Karlsson, Elena V. Pavlova, Timothy M. Cox, Saskia Scheij, Marri Verhoek, Roelof Ottenhoff, CindyP.A.A. van Roomen, Navraj S. Pannu, Marco van Eijk, Nick Dekker, Rolf G. Boot, Herman S. Overkleeft, Edward Blommaart, Yoshio Hirabayashi, Johannes M. Aerts   +26 more
doaj   +1 more source

Iminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff disease. [PDF]

PLoS ONE, 2011
The neuropathic glycosphingolipidoses are a subgroup of lysosomal storage disorders for which there are no effective therapies. A potential approach is substrate reduction therapy using inhibitors of glucosylceramide synthase (GCS) to decrease the ...
Karen M Ashe, Dinesh Bangari, Lingyun Li, Mario A Cabrera-Salazar, Scott D Bercury, Jennifer B Nietupski, Christopher G F Cooper, Johannes M F G Aerts, Edward R Lee, Diane P Copeland, Seng H Cheng, Ronald K Scheule, John Marshall   +12 more
doaj   +1 more source

Cytosolic glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease

Neurobiology of Disease, 2019
Niemann-Pick type C disease (NPCD) is a neurodegenerative disease associated with increases in cellular cholesterol and glycolipids and most commonly caused by defective NPC1, a late endosomal protein.
Simon Wheeler, Per Haberkant, Meenakshi Bhardwaj, Paige Tongue, Maria J. Ferraz, David Halter, Hein Sprong, Ralf Schmid, Johannes M.F.G. Aerts, Nikol Sullo, Dan J. Sillence   +10 more
doaj   +1 more source

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

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   +1 more source

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia [PDF]

The American Journal of Human Genetics, 2013
Spastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia (HSP). With next-generation sequencing in three independent families, we identified four different mutations in GBA2 (three truncating variants and one missense variant), which were found to ...
Martin, Elodie, Schüle, Rebecca, Smets, Katrien, Rastetter, Agnès, Boukhris, Amir, Loureiro, José L., Gonzalez, Michael A., Mundwiller, Emeline, Deconinck, Tine, Wessner, Marc, Jornea, Ludmila, Oteyza, Andrés Caballero, Durr, Alexandra, Martin, Jean-Jacques, Schöls, Ludger, Mhiri, Chokri, Lamari, Foudil, Züchner, Stephan, de Jonghe, Peter, Kabashi, Edor, Brice, Alexis, Stevanin, Giovanni   +21 more
openaire   +6 more sources