Results 121 to 130 of about 10,389 (214)

Delayed Diagnosis of Type 1 Gaucher Disease at Age 15 After Years of Mild Cytopenias and Splenomegaly: A Case Report and Long-Term Follow-Up. [PDF]

Am J Case Rep
Muras-Szwedziak K, Kasznicki J, Wegner O, Wójcik M, Wojtyczka O.   +4 more
europepmc   +1 more source

<i>Hyssopus officinalis</i> L. (Lamiaceae) Cell Culture Extract Modulates Epidermal Lipid-Related and Differentiation Markers. [PDF]

Cells
Tito A, Vardaro E, De Lucia A, Falanga D, De Musis C, Colantuono A, Cefariello A, Ricci L, Vitiello G, Arra I, Di Lorenzo R, Diretto G, Demurtas OC, Sulli M, Pappas A, Greco G, Laneri S, Colucci MG.   +17 more
europepmc   +1 more source

Generation and Characterization of an Osteoclastic Cell Model of Gaucher's Bone Disease. [PDF]

Calcif Tissue Int
Patiño-Salazar JD, Gutiérrez-Ávila JD, Heredero-Jimenez S, Martín-Guerrero E, Martínez-Gil N, Cozar M, Ovejero D, Nogués X, Cinque L, Ardura JA, Gortazar AR, Grinberg D, Balcells S, Garcia-Giralt N, Rabionet R.   +14 more
europepmc   +1 more source

Genetic Architecture of Synaptic Failure in Dementia with Lewy Bodies: From α-Synuclein Proteoforms to GBA1-Mediated Plasticity Deficits. [PDF]

Genes (Basel)
Bougea A.
europepmc   +1 more source

Daily regulation of glucocerebrosidase activity and impact of fixed-time rotarod training in a mouse model of <i>Gba1</i>-associated Parkinson's disease. [PDF]

Front Cell Neurosci
Bertasini C, Tavakolian Haghighi S, Bruno MG, Paio F, Artusi CA, Brunelli M, Schena F, Venturelli M, Moretti U, Romanelli MG, Paolone G.   +10 more
europepmc   +1 more source

Glucocerebrosidase (GBA; GCase) [PDF]

Science-Business eXchange, 2011
openaire   +2 more sources

Prism[5]arene Iminosugar Bioconjugates Are Potent Multivalent Inhibitors and Mutation Specific Pharmacological Chaperones of Glucocerebrosidase (GCase) Activity. [PDF]

Bioconjug Chem
Palmieri A, Clemente F, Ignoto MM, Buonsenso F, Attanasio M, De Rosa M, Talotta C, Della Sala P, Del Regno R, Iuliano V, Morrone A, Cardona F, Goti A, Matassini C, Gaeta C.   +14 more
europepmc   +1 more source

Glucocerebrosidase (GBA; GCase) [PDF]

Science-Business eXchange, 2009
openaire   +1 more source

Associations of Monocyte Glucocerebrosidase with Cognition and Cholinergic Innervation in GBA1 Parkinson's Disease. [PDF]

Mov Disord
Slingerland S, van der Zee S, van Ijzendoorn SCD, Slomp AC, Boertien JM, Meles SK, Kol A, Geerlings M, van Laar T.   +8 more
europepmc   +1 more source

The Sphingolipid Balance and Endothelial Dysfunction in Lysosomal Storage Diseases: Shared Mechanisms in Gaucher, Niemann-Pick and Fabry Disease. [PDF]

Int J Mol Sci
Nekrasova A, Kutsev S, Shestopalov A.
europepmc   +1 more source