Results 111 to 120 of about 9,202 (225)

Molecular analysis and expression of the human glucocerebrosidase gene

, 2017
Gaucher disease is the most prevalent lysosomal lipid storage disease caused by deficient glucocerebrosidase activity. It is transmitted as an autosomal recessive trait.
Wei, Chao
core  

Progressive decline of glucocerebrosidase in aging and Parkinson's disease

, 2015
The principal risk factor for developing most adult onset neurodegenerative diseases is aging, with incidence rising significantly after age 50. Despite research efforts, the causes of Parkinson's disease (PD) remain unknown.
Hallett, Penelope, Rocha, Emily M, Cao, Hongmei, Isacson, Ole, Rocha, Emily M., Smith, Gaynor A, Brown, Eilish, Park, Eric, Smith, Gaynor A.   +8 more
core   +1 more source

Acid ceramidase overactivity drives ceramide loss, leading to atopic dry skin and Th2‐skewed immune polarization

The Journal of Pathology, Volume 269, Issue 2, Page 232-247, June 2026.
Abstract Ceramide deficiency in the stratum corneum (SC) is a key etiological factor in atopic dermatitis (AD). To clarify the direct role of SC ceramide depletion in impairing SC barrier and water‐holding functions and in initiating AD‐like skin symptoms and disease‐specific molecular alterations, we generated Tg mice overexpressing a mutant form of ...
Mariko Takada, Miho Sashikawa‐Kimura, Yusuke Ohno, Md Razib Hossain, Xiaonan Xie, Kazuhisa Iwabuchi, Mayumi Komine, Mamitaro Ohtsuki, Genji Imokawa   +8 more
wiley   +1 more source

Next-Generation Sequencing Analysis of GBA1: The Challenge of Detecting Complex Recombinant Alleles

Frontiers in Genetics, 2021
Elizabeth G. Woo, Nahid Tayebi, Ellen Sidransky   +2 more
doaj   +1 more source

Estudo da doença de Gaucher em Santa Catarina Study of Gaucher disease in Santa Catarina

Revista Brasileira de Hematologia e Hemoterapia, 2008
A doença de Gaucher (DG) foi a primeira doença de armazenamento lisossomal descrita e a mais encontrada. Caracteriza-se pela deficiência hereditária da atividade da enzima lisossomal glucocerebrosidase, que bloqueia o metabolismo do glicocerebrosídeo.
Jovino S. Ferreira, Vera Lúcia P. C. Ferreira, David C. Ferreira   +2 more
doaj   +1 more source

Deciphering Freezing of Gait: What Neuropathology Reveals About an Episodic Phenomenon

European Journal of Neuroscience, Volume 63, Issue 12, June 2026.
Freezing of gait (FoG) occurs across Parkinson's disease, multiple neurodegenerative conditions and non‐neurodegenerative disorders. This review synthesizes the structural, neurochemical and proteinopathic substrates underlying FoG, showing how cumulative damage to distributed locomotor circuits—compounded by overlapping pathologies—progressively ...
Gabor G. Kovacs
wiley   +1 more source

Studies on the turnover of glucocerebrosidase in cultured rat peritoneal macrophages and normal human fibroblasts [PDF]

, 1986
The kinetics of glucocerebrosidase synthesis and degradation in rat peritoneal macrophages and in human fibroblasts have been studied using conduritol B epoxide (CBE), an irreversible and specific inhibitor of mammalian glucocerebrosidase.
Das, Pijush K., Murray, Gary J., Barranger, John A.   +2 more
core   +1 more source

Iminosugar-Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers [PDF]

A remarkable enhancer of human glucocerebrosidase enzyme (GCase) was identified among a set of dihydroazulene-tagged iminosugars. An unprecedented 3.9-fold increase in GCase activity was detected on fibroblasts bearing the homozygous L444P mutation ...
Davighi, Maria Giulia, Goti, Andrea, Paoli, Paolo, Clemente, Francesca, Andreasen, Emilie Sperling, Morrone, Amelia, Cardona, Francesca, Matassini, Camilla, Nielsen, Mogens Brøndsted, Cacciarini, Martina   +9 more
core   +1 more source

Neurosteroid Levels in GBA Mutated and Non-Mutated Parkinson’s Disease: A Possible Factor Influencing Clinical Phenotype?

Biomolecules
Neurosteroids are pleiotropic molecules involved in various neurodegenerative diseases with neuroinflammation. We assessed neurosteroids’ serum levels in a cohort of Parkinson’s Disease (PD) patients with heterozygous glucocerebrosidase (GBA) mutations ...
Francesco Cavallieri, Chiara Lucchi, Sara Grisanti, Edoardo Monfrini, Valentina Fioravanti, Giulia Toschi, Giulia Di Rauso, Jessica Rossi, Alessio Di Fonzo, Giuseppe Biagini, Franco Valzania   +10 more
doaj   +1 more source

Nrf2/NOX2 Pathway Dysregulation and Oxidative Stress Biomarkers in Gaucher Disease–Associated Parkinsonism: Insights Into a Potential Therapeutic Target

Journal of Cellular and Molecular Medicine, Volume 30, Issue 11, June 2026.
ABSTRACT Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder, yet its underlying genetic and molecular mechanisms remain incompletely understood. Variants in the GBA gene, encoding the lysosomal enzyme glucocerebrosidase, are not only responsible for Gaucher disease (GD) but also represent a significant genetic risk factor ...
Alessio Ardizzone, Marika Lanza, Anna Paola Capra, Giovanna Casili, Maria Bulzomì, Fabiola De Luca, Irene Paterniti, Michela Campolo, Emanuela Esposito   +8 more
wiley   +1 more source