Results 81 to 90 of about 2,570 (187)

Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease

Orphanet Journal of Rare Diseases, 2020
Background Neurological forms of Gaucher disease, the inherited disorder of β-Glucosylceramidase caused by bi-allelic variants in GBA1, is a progressive disorder which lacks a disease-modifying therapy.
Aimee Donald, Chong Y. Tan, Anupam Chakrapani, Derralyn A. Hughes, Reena Sharma, Duncan Cole, Stanislav Bardins, Martin Gorges, Simon A. Jones, Erich Schneider   +9 more
doaj   +1 more source

Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease

Orphanet Journal of Rare Diseases, 2022
Background Neuronopathic Gaucher Disease (nGD) describes the condition of a subgroup of patients with the Lysosomal Storage Disorder (LSD), Gaucher disease with involvement of the central nervous system (CNS) which results from inherited deficiency of β ...
Aimee Donald, Cecilia Kämpe Björkvall, Ashok Vellodi, GAUCHERITE Consortium, Timothy M. Cox, Derralyn Hughes, Simon A. Jones, Robert Wynn, Maciej Machaczka   +8 more
doaj   +1 more source

Protein‐Derived Signal Peptides Induced by Agrobacterium Infection Promote the Secretion of Recombinant Proteins in Nicotiana benthamiana

Plant Biotechnology Journal, Volume 24, Issue 1, Page 187-203, January 2026.
ABSTRACT Plants are promising next‐generation hosts for recombinant protein production; however, major challenges remain with regard to enhancing the efficiency of downstream processing, particularly in the removal of cellular residues and purification of the expressed proteins.
Hiroyuki Kajiura, Kana Yamamoto, Ryo Misaki, Kazuhito Fujiyama   +3 more
wiley   +1 more source

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. [PDF]

, 2014
Gaucher disease is caused by mutations in the glucocerebrosidase gene, which encodes the lysosomal hydrolase glucosylceramidase. Patients with Gaucher disease and heterozygous glucocerebrosidase mutation carriers are at increased risk of developing ...
Hughes, D, Magalhaes, J, Cooper, JM, Gegg, M, Mehta, A, Chau, KY, Foltynie, T, McNeill, A, Shen, C, Abramov, AY, Schapira, AH   +10 more
core  

Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients

, 2013
Gaucher disease (GD) is the most common lysosomal storage disorder (LSD). Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide. Standard diagnostic procedures include measurement of enzyme activity, genetic testing as
Rolfs, A, Hermann Mascher, Boettcher, T, Anne-Katrin Giese (440558), Wittstock, M, Huebner, R, Roehle, A, Arndt Rolfs (140849), Zimran Ari, Deborah Elstein (487463), Mascher Hermann, Deborah Elstein, Ari Zimran, Röhle Anja, Wittstock Matthias, Arndt Rolfs, Grittner Ulrike, Tobias Böttcher (451245), Grittner, U, Jan Lukas, Rolfs Arndt, Jan Lukas (338014), Rayk Hübner (487464), Rayk Hübner, Uta Gölnitz, Ales Dudesek, Lukas Jan, Anja Röhle, Daniel Mascher (487462), Meyer, W, Tobias Böttcher, Giese, A-K, Mascher Daniel, Giese Anne-Katrin, Hermann Mascher (440562), Anne-Katrin Giese, Goelnitz, U, Daniel Mascher, Dudesek Ales, Ulrike Grittner, Uta Gölnitz (87824), Zimran, A, Matthias Wittstock (487467), Mascher, H, Elstein, D, Dudesek, A, Gölnitz Uta, Matthias Wittstock, Böttcher Tobias, Hübner Rayk, Ulrike Grittner (440560), Mascher, D, Ari Zimran (266246), Lukas, J, Wolfgang Meyer, Meyer Wolfgang, Wolfgang Meyer (440563), Elstein Deborah, Anja Röhle (487465), Ales Dudesek (487466)   +59 more
core   +1 more source

Progress of non‐motor symptoms in early‐onset Parkinson's disease

Ibrain, Volume 11, Issue 4, Page 422-438, Winter 2025.
This study reviews the research progress related to non‐motor symptoms (NMS) in patients with early onset Parkinson's disease (EOPD), including neuropsychiatric symptoms, autonomic dysfunction, sleep disorders, and sensory disorders and also summarizes the characteristics of NMS in the genetic form of Parkinson's disease (PD).
Fanshi Zhang, Aidi Luo, Shusheng Liao, Mei Liu, Jun Zhang, Zucai Xu   +5 more
wiley   +1 more source

Synthesis and Evaluation of Hybrid Structures Composed of Two Glucosylceramide Synthase Inhibitors

, 2015
Glucosylceramide metabolism and the enzymes involved have attracted significant interest in medicinal chemistry, because aberrations in the levels of glycolipids that are derived from glucosylceramide are causative in a range of human diseases including ...
Houben, Judith, Hoogendoorn, Sascha, Aerts, J.M.F.G., Strijland, A., van den Berg, Richard, Johannes M. F. G. Aerts, Maria Joao Ferraz, Jeroen D. C. Codée, Ghisaidoobe, Amar B. T., Overkleeft, H.S., Tom Wennekes, Bonger, Kimberly M., van der Marel, Gijsbert A., Aerts, Johannes M. F. G., Gijsbert A. van der Marel, Bonger, K.M., Anneke Strijland, Ferraz, M.J., Overkleeft, Herman S., Ghisaidoobe, Amar B T, Wennekes, T., Vanrijssel, Erwin R., Herman S. Overkleeft, Rijssel, E.R. van, Ghisaidoobe, A.B.T., Sascha Hoogendoorn, Ghisaidoobe, Amar B.T., van Rijssel, Erwin R., Hoogendoorn, S., Strijland, Anneke, Amar B. T. Ghisaidoobe, Codee, J.D.C., Berg, R.J.B.H.N. van der, Codée, Jeroen D.C., Codée, Jeroen D C, Marel, G.A. van der, Wennekes, Tom, Judith Houben, Codée, Jeroen D. C., Erwin R. van Rijssel, Kimberly M. Bonger, Houben, J., van den Berg, Richard J. B. H. N., Vandenberg, Richard J B H N, Wilma E. Donker‐Koopman, Donker-Koopman, W.E., Ferraz, Maria Joao, Donker-Koopman, Wilma E., Aerts, Johannes M.F.G., Vandermarel, Gijsbert A., Aerts, Johannes M F G, Richard J. B. H. N. van den Berg   +51 more
core   +1 more source

Parkinson's Disease and Cancer: Mechanistic Insights and Therapeutic Opportunities From Cancer Neuroscience

MedComm – Oncology, Volume 4, Issue 4, December 2025.
Parkinson's disease (PD) and glioma are neurological disorders with distinct and even opposing mechanisms: α‐synuclein deposition and neuronal loss in PD versus glial cell malignancy in glioma. Despite these differences, their contrasting pathologies highlight multiple therapeutic targets.
Tianli Pan, Lin Yuan, Ruoyang Zhao, Liting Lu, Yinghao Zhi, Yuying Li, Min Wu, Yongye Huang   +7 more
wiley   +1 more source

Splenic Artery Aneurysm in Gaucher Disease: A Hybrid Study Combining Case Report, Scoping Review, and Clinical Survey

JIMD Reports, Volume 66, Issue 6, November 2025.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder caused by pathogenic variants in the GBA gene. Splenic artery aneurysm (SAA) is an uncommon and underrecognized complication of GD, particularly in the absence of traditional risk factors. SAA carries a high risk of rupture and significant mortality.
Paolo Manzi, Anita Vergatti, Veronica Abate, Nadia Altavilla, Michelina Sibilio, Pietro Venetucci, Paolo Tirelli, Domenico Rendina, Antonio Barbato   +8 more
wiley   +1 more source

Effects of X‐Ray Irradiation on the Biological Parameters, Gut Microbiota, and Gene Expression of Bactrocera dorsalis: Implications for the Sterile Insect Technique

Evolutionary Applications, Volume 18, Issue 10, October 2025.
ABSTRACT The sterile insect technique (SIT), traditionally reliant on gamma irradiation, has been an effective strategy for controlling Bactrocera dorsalis. However, strict regulations governing gamma radiation sources and the limited research on the responses of B. dorsalis to X‐ray irradiation have hindered the further development of SIT.
Jia Lin, Wensha Ding, Jun Chen, Guoqing Yue, Bo Wang, Qing'e Ji   +5 more
wiley   +1 more source