Results 41 to 50 of about 9,202 (225)

Glucocerebrosidase mutations and the pathogenesis of Parkinson disease [PDF]

Annals of Medicine, 2013
Parkinson disease (PD) is the second most common neurodegenerative disease after Alzheimer disease with a lifetime risk in the UK population of almost 5%. An association between PD and Gaucher disease (GD) derived from the observation that GD patients and their heterozygous carrier relatives were at increased risk of PD.
Michelle S, Beavan, Anthony H V, Schapira   +1 more
openaire   +2 more sources

Expression of mutated glucocerebrosidase alleles in human cells [PDF]

, 1997
Gaucher disease is a heterogeneous disease characterized by impaired activity of the lysosomal enzyme glucocerebrosidase. This heterogeneity is attributed to a large number of mutations in the corresponding gene.
Gatt, S., Pasmanik-Chor, M., Stein, O.E., Horowitz, M., Stein, E. O., Aerts, J.M.F.G., Madar-Shapiro, L., Aerts, H.   +7 more
core   +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

Polymorphisms in the human glucocerebrosidase gene

Genomics, 1992
The two glucocerebrosidase genes from a patient with Gaucher disease were cloned and 8850 bp of each sequenced. Each clone had a single nucleotide change accounting for the clinical glucocerebrosidase deficiency, an A to G transition at cDNA nucleotide 1226 in one clone, and an insertion of a G at cDNA nucleotide 84 in the other clone.
E, Beutler, C, West, T, Gelbart
openaire   +2 more sources

Glucocerebrosidase deficits in sporadic Parkinson disease [PDF]

Autophagy, 2014
Parkinson disease (PD) is a progressive neurodegenerative movement disorder characterized pathologically by abnormal SNCA/α-synuclein protein inclusions in neurons. Impaired lysosomal autophagic degradation of cellular proteins is implicated in PD pathogenesis and progression.
Murphy, Karen E, Halliday, Glenda
openaire   +3 more sources

Probing the Inhibitor versus Chaperone Properties of sp2-Iminosugars towards Human β-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease

Molecules, 2018
A series of sp2-iminosugar glycomimetics differing in the reducing or nonreducing character, the configurational pattern (d-gluco or l-ido), the architecture of the glycone skeleton, and the nature of the nonglycone substituent has been synthesized and ...
Teresa Mena-Barragán, M. Isabel García-Moreno, Alen Sevšek, Tetsuya Okazaki, Eiji Nanba, Katsumi Higaki, Nathaniel I. Martin, Roland J. Pieters, José M. García Fernández, Carmen Ortiz Mellet   +9 more
doaj   +1 more source

Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease

American Journal of Hematology, EarlyView.
ABSTRACT Chronic antigenic stimulation is implicated in the pathogenesis of monoclonal gammopathy and multiple myeloma, yet longitudinal human evidence linking sustained antigen exposure to modifiable clonal plasma cell evolution remains limited. Gaucher disease (GD), caused by biallelic GBA1 pathogenic variants, is characterized by accumulation of ...
Noor Ul Ain, Noffar Bar, Lilu Guo, Katherine Klinger, Punita Gupta, Atta Ur Rahman, Ruhua Yang, Yanhong Deng, Natalia Neparidze, Shiny Nair, Pramod K. Mistry   +10 more
wiley   +1 more source

Nanomaterial‐based immune therapeutic strategies in neurodegenerative diseases

BMEMat, EarlyView.
This review highlights the immunomodulatory potential of nanomaterials (NMs) in treating neurodegenerative diseases (NDs). It focuses on their roles in regulating innate and adaptive immune responses to maintain immune homeostasis. By providing insights into these mechanisms, the review lays the groundwork for innovative NMs therapeutic strategies to ...
Xinru Zhou, Jia Liu, Shulin Lai, Suhan Yin, Bingmin Luo, Longquan Shao, Yiyuan Kang   +6 more
wiley   +1 more source

A Systematic Review on Disease‐Modifying Therapies in Parkinsonian Disorders

Clinical Pharmacology &Therapeutics, EarlyView.
Parkinsonian disorders, including Parkinson's disease, Lewy body dementia, multiple system atrophy, and progressive supranuclear palsy, are progressive neurodegenerative conditions with no treatment options to slow disease progression. This systematic review provides an overview of evidence of disease‐modifying therapies that have been evaluated in ...
Pepijn P.N.M. Eijsvogel, Lars M.G. Smits, Philip H.C. Kremer, Geert Jan Groeneveld   +3 more
wiley   +1 more source

Glucocerebrosidase Inhibitors For The Treatment of Gaucher Disease

Future Medicinal Chemistry, 2013
Gaucher disease is a progressive lysosomal storage disorder caused by a deficiency in the activity of β-glucocerebrosidase and is characterized by the accumulation of the glycosphingolipid glucosylceramide in the lysosomes of macrophages that leads to dysfunction in multiple organ system.
Trapero, Ana, Llebaria, Amadeu
openaire   +3 more sources