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「glucocerebrosidase」の検索結果

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Alterations in the properties of the cell membrane due to glycosphingolipid accumulation in a model of Gaucher disease.

GBA1 deficiency negatively affects physiological α-synuclein tetramers and related multimers.

α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.

Activity-Based Probes for Glycosidases: Profiling and Other Applications.

Fluorescence-Quenched Substrates for Quantitative Live Cell Imaging of Glucocerebrosidase Activity.

Pathological role of lipid interaction with α-synuclein in Parkinson's disease.

Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease.

Gaucher disease iPSC-derived osteoblasts have developmental and lysosomal defects that impair bone matrix deposition.

Reversible Conformational Conversion of α-Synuclein into Toxic Assemblies by Glucosylceramide.

Changes of the peripheral blood mononuclear cells membrane fluidity from type 1 Gaucher disease patients: an electron paramagnetic resonance study.

Reduced LRRK2 in association with retromer dysfunction in post-mortem brain tissue from LRRK2 mutation carriers.

The Enigmatic Role of GBA2 in Controlling Locomotor Function.

Application of Fourier transform infrared spectroscopy to biomolecular profiling of cultured fibroblast cells from Gaucher disease patients: A preliminary investigation.

Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma.

Lysosomal integral membrane protein-2 as a phospholipid receptor revealed by biophysical and cellular studies.

Altered Differentiation Potential of Gaucher's Disease iPSC Neuronal Progenitors due to Wnt/β-Catenin Downregulation.

The lysosomal enzyme alpha-Galactosidase A is deficient in Parkinson's disease brain in association with the pathologic accumulation of alpha-synuclein.

Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course.

[The clinical features of Parkinson's disease in patients with mutations and polymorphic variants of GBA gene].

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

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