Results 1 to 10 of about 9,009 (166)

ARF6 regulates neuron differentiation through glucosylceramide synthase. [PDF]

PLoS ONE, 2013
The small GTPase ADP ribosylation factor 6 (ARF6) mediates endocytosis and has in addition been shown to regulate neuron differentiation. Here we investigated whether ARF6 promotes differentiation of Neuro-2a neuronal cells by modifying the cellular ...
Lu Li, Marcus Ståhlman, Mikael Rutberg, Liliana Håversen, Per Fogelstrand, Linda Andersson, Malin Levin, Jan Borén   +7 more
doaj   +4 more sources

Glycolipid transfer protein expression is affected by glycosphingolipid synthesis. [PDF]

PLoS ONE, 2013
Members of the glycolipid transfer protein superfamily (GLTP) are found from animals and fungi to plants and red micro-alga. Eukaryotes that encode the glucosylceramide synthase responsible for the synthesis of glucosylceramide, the precursor for most ...
Matti A Kjellberg, Peter Mattjus
doaj   +1 more source

Accumulation of glucosylceramide in the absence of the beta-glucosidase GBA2 alters cytoskeletal dynamics. [PDF]

PLoS Genetics, 2015
Glycosphingolipids are key elements of cellular membranes, thereby, controlling a variety of cellular functions. Accumulation of the simple glycosphingolipid glucosylceramide results in life-threatening lipid storage-diseases or in male infertility.
Diana Raju, Sophie Schonauer, Hussein Hamzeh, Kevin C Flynn, Frank Bradke, Katharina Vom Dorp, Peter Dörmann, Yildiz Yildiz, Christian Trötschel, Ansgar Poetsch, Bernadette Breiden, Konrad Sandhoff, Heinz G Körschen, Dagmar Wachten   +13 more
doaj   +1 more source

Cerebrospinal Fluid Profiles in Parkinson’s Disease: No Accumulation of Glucosylceramide, but Significant Downregulation of Active Complement C5 Fragment

Journal of Parkinson’s Disease, 2021
Background: As mutations in glucocerebrosidase 1 ( GBA1 ) are a major risk factor for Parkinson’s disease (PD), decreased GBA1 activity might play an important role in the pathogenesis of the disease.
Yoshiki Niimi, Yasuaki Mizutani, Hisako Akiyama, Hirohisa Watanabe, Ryoichi Shiroki, Yoshio Hirabayashi, Kiyotaka Hoshinaga, Tatsuro Mutoh   +7 more
doaj   +1 more source

Glucosylceramide in cerebrospinal fluid of patients with GBA-associated and idiopathic Parkinson’s disease enrolled in PPMI

npj Parkinson's Disease, 2021
Protein-coding variants in the GBA gene modulate susceptibility and progression in ~10% of patients with Parkinson’s disease (PD). GBA encodes the β-glucocerebrosidase enzyme that hydrolyzes glucosylceramide.
Young Eun Huh, Hyejung Park, Ming Sum Ruby Chiang, Idil Tuncali, Ganqiang Liu, Joseph J. Locascio, Julia Shirvan, Samantha J. Hutten, Melissa S. Rotunno, Catherine Viel, Lamya S. Shihabuddin, Bing Wang, Sergio Pablo Sardi, Clemens R. Scherzer   +13 more
doaj   +1 more source

Saturated very long chain fatty acid configures glycosphingolipid for lysosome homeostasis in long-lived C. elegans

Nature Communications, 2021
The membrane lipids change with ageing and function as regulatory molecules, but the underlying mechanisms are incompletely understood. Here, the authors identify C22 glucosylceramide as a regulator of the longevity transcription factor SKN-1, and show ...
Feng Wang, Yuxi Dai, Xufeng Zhu, Qilong Chen, Huanhu Zhu, Ben Zhou, Haiqing Tang, Shanshan Pang   +7 more
doaj   +1 more source

Substrate Reduction Therapy Reverses Mitochondrial, mTOR, and Autophagy Alterations in a Cell Model of Gaucher Disease

Cells, 2021
Substrate reduction therapy (SRT) in clinic adequately manages the visceral manifestations in Gaucher disease (GD) but has no direct effect on brain disease.
Yanyan Peng, Benjamin Liou, Yi Lin, Venette Fannin, Wujuan Zhang, Ricardo A. Feldman, Kenneth D. R. Setchell, Gregory A. Grabowski, Ying Sun   +8 more
doaj   +1 more source

Human Brain Lipidomics: Investigation of Formalin Fixed Brains

Frontiers in Molecular Neuroscience, 2022
Human brain lipidomics have elucidated structural lipids and lipid signal transduction pathways in neurologic diseases. Such studies have traditionally sourced tissue exclusively from brain bank biorepositories, however, limited inventories signal that ...
Aaron W. Beger, Kathleen A. Hauther, Beatrix Dudzik, Randall L. Woltjer, Randall L. Woltjer, Paul L. Wood   +5 more
doaj   +1 more source

Assay for the transbilayer distribution of glycolipids: selective oxidation of glucosylceramide to glucuronylceramide by TEMPO nitroxyl radicals

Journal of Lipid Research, 2000
In the present study, 2,2,6,6-tetramethylpiperidinooxy nitroxide (TEMPO) has been applied successfully to discriminate between glucosylceramide in the outer and inner leaflets of closed membrane bilayers.
Daniel J. Sillence, René J. Raggers, David C.A. Neville, David J. Harvey, Gerrit van Meer   +4 more
doaj   +1 more source

Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease

Cell Structure and Function, 2023
Gaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes ...
Asuka Hamamoto, Natsuki Kita, Siddabasave Gowda B. Gowda, Hiroyuki Takatsu, Kazuhisa Nakayama, Makoto Arita, Shu-Ping Hui, Hye-Won Shin   +7 more
doaj   +1 more source