Results 71 to 80 of about 940,251 (149)

The effects of N-hexyl-O-glucosyl sphingosine on normal cultured human fibroblasts: a chemical model for Gaucher's disease

Journal of Lipid Research, 1976
Normal human skin fibroblasts were grown in the presence of N-hexyl-O-glucosyl sphingosine (HGS), an inhibitor of aryl glucosidase and glucocerebrosidase.
K R Warren, I A Schafer, J C Sullivan, M Petrelli, N S Radin   +4 more
doaj   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, Volume 13, Issue 10, Page 2379-2394, October 2026.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

Diving Deeper Into Mechanisms of Acrylamide‐Induced Toxicity: RNA Sequencing Reveals Transcriptomic Alteration and Retrotransposon Expression in Drosophila melanogaster

Environmental Toxicology, Volume 41, Issue 10, Page 1105-1118, October 2026.
ABSTRACT Given the inevitability of human and animal exposure to acrylamide, there is increasing concern regarding its potential health risks. While a number of molecular mechanisms have been proposed, the complexity of acrylamide toxicological pathways and interactions remains incompletely characterized.
Oluwabukola Mary Farodoye, Titilayomi Ayomide Otenaike, Daniela Moreira Mombach, Monica Medeiros Silva, Amos Olalekan Abolaji, Elgion Lucio Da Silva Loreto   +5 more
wiley   +1 more source

Mitochondria and quality control defects in a mouse model of Gaucher Disease-links to Parkinson's Disease [PDF]

, 2013
Mutations in the glucocerebrosidase (gba) gene cause Gaucher disease (GD), the most common lysosomal storage disorder, and increase susceptibility to Parkinson's disease (PD).
Gegg, ME, Osellame, LD, Richard-Londt, A, Brandner, S, Hargreaves, IP, Waddington, SN, Schapira, AHV, Rahim, AA, Duchen, MR, Schapira, AH   +9 more
core   +1 more source

Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease

American Journal of Hematology, Volume 101, Issue 9, Page 2197-2213, September 2026.
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

Glucocerebrosidase inhibitors: Future drugs for the treatment of Gaucher disease? [PDF]

, 2014
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 ...
Trapero, Ana, Llebaria, Amadeu
core   +1 more source

Exploring the long-term use of ambroxol in Gaucher disease type 2: insights from two pediatric cases

Frontiers in Neurology
Gaucher disease 2 (GD2) is a rare and rapidly progressive neuropathic lysosomal storage disorder with an average survival of 11–19 months. To date, no approved therapy is available, but the variant-dependent pharmacological chaperone ambroxol (ABX) has ...
Charlotte Aries, Anja Köhn, Karolin Täuber, Cornelia Rudolph, Tobias Böttcher, Peter Bauer, Steffen Fischer, Nicole Muschol   +7 more
doaj   +1 more source

Cell Death in Neurodegenerative Diseases: Molecular Mechanisms and Therapeutic Targets

MedComm, Volume 7, Issue 9, September 2026.
Regulated cell death pathways, including apoptosis, necroptosis, pyroptosis, ferroptosis, and autophagy‐dependent cell death, interact with mitochondrial dysfunction, proteostasis failure, lysosomal stress, glial remodeling, and neuroinflammation across major neurodegenerative diseases.
Tianjiao Li, Qian Zhang, Yichen Wu, Ruixue Huang   +3 more
wiley   +1 more source

Nanobioreactors with activity Β-glucocerebrosidase for treatment Gaucher disease

, 2020
La enfermedad de Gaucher es un trastorno metabólico y el más común entre las enfermedades de almacenamiento lisosomal, es causado por la deficiencia en la actividad de la enzima glucocerebrosidasa (Gcase).
CINDY NAYELY OLIVARES MEDINA
core  

Association Between Progranulin and Gaucher Disease

EBioMedicine, 2016
Background: Gaucher disease (GD) is a genetic disease caused by mutations in the GBA1 gene which result in reduced enzymatic activity of β-glucocerebrosidase (GCase). This study identified the progranulin (PGRN) gene (GRN) as another gene associated with
Jinlong Jian, Shuai Zhao, Qing-Yun Tian, Helen Liu, Yunpeng Zhao, Wen-Chi Chen, Gabriele Grunig, Paola A. Torres, Betty C. Wang, Bai Zeng, Gregory Pastores, Wei Tang, Ying Sun, Gregory A. Grabowski, Max Xiangtian Kong, Guilin Wang, Ying Chen, Fengxia Liang, Herman S. Overkleeft, Rachel Saunders-Pullman, Gerald L. Chan, Chuan-ju Liu   +21 more
doaj   +1 more source