Results 91 to 100 of about 29,070 (238)
Periodontology 2000, EarlyView.AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer +4 more
wiley +1 more source
The what, which, when, why and who of Off responses in the auditory system
The Journal of Physiology, EarlyView.Abstract figure legend In this article, we will first review ‘What’ different mechanisms are involved in the generation of Off responses at the sub‐cortical and cortical level of the auditory system. Then, we evaluate ‘Which’ stimulus properties elicit Off responses at the different levels of the auditory system.
Jean‐Marc Edeline, Robert C. Liu
wiley +1 more source
Efferocytosis is impaired in Gaucher macrophages
Haematologica, 2017 Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, is characterized by the presence of glucosylceramide-laden macrophages resulting from impaired digestion of aged erythrocytes or apoptotic leukocytes.
Elma Aflaki +6 more
doaj +1 more source
A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse [PDF]
, 1995 Gaucher mice, created by targeted disruption of the glucocerebrosidase gene, are totally deficient in glucocerebrosidase and have a rapidly deteriorating clinical course analogous to the most severely affected type 2 human patients.
Eliason, W.K. (W.) +10 more
core +1 more source
JOR SPINE, Volume 9, Issue 2, June 2026.LMP is responsible for lysosomal dysfunction in IDD. The lipid composition changes in the lysosomal membrane, mediated by PLA2G15, are the cause of LMP. The C/EBPα significantly promotes PLA2G15 expression under PA overload stress. Inhibition of PLA2G15 alleviates PA‐induced LMP by inhibiting the hydrolysis of lysosomal membrane phospholipids. ABSTRACT
Liqun Duan +7 more
wiley +1 more source
A 30-Year-Old Carrier of Gaucher Disease with Multiple Myeloma
Case Reports in Oncological Medicine, 2019 We are reporting a case of a 30-year-old male with no past medical history who presented with new onset of renal failure, anemia, and splenomegaly and was diagnosed with multiple myeloma.
Juskaran Chadha +3 more
doaj +1 more source
Haematologica, 2009 There are few published data from real-world clinical experience with miglustat (Zavesca®), an oral inhibitor of glucosylceramide synthase, in type 1 Gaucher disease.
Pilar Giraldo +9 more
doaj +1 more source
Model for Quantitative Evaluation of Enzyme Replacement Treatment [PDF]
, 2009 Gaucher disease is the most frequent lysosomal disorder. Its enzyme replacement treatment was the new progress of modern biotechnology, successfully used in the last years.
Radeva B.
core
Intrinsic conformational equilibria position arrestin‐2 for activation
Protein Science, Volume 35, Issue 6, June 2026.Abstract Arrestins regulate G protein‐coupled receptor (GPCR) signaling by undergoing large‐scale conformational rearrangements, yet the solution‐state equilibria that underlie arrestin pre‐activation remain poorly defined. While prior studies identified slow conformational exchange at the interdomain interface, these minor states could not be ...
Tucker J. Shriver +6 more
wiley +1 more source
Gaucher Disease: an underdiagnosed disorder [PDF]
, 2011 OBJECTIVE: Gaucher disease is an inborn error of metabolism, clinically heterogeneous, whose prognosis may vary according to the presentation subtype.
Aoqui, William Luiz +4 more
core +4 more sources