Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells

TFEB regulates lysosomal proteostasis

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TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop

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The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

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Glucocerebrosidase in the pathogenesis and treatment of Parkinson disease: Fig. 1.

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A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies

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Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

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Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

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Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

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The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice

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Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts

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Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts

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Glucocerebrosidase Mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease

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A clinical and family history study of Parkinson's disease in heterozygousglucocerebrosidasemutation carriers

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The link between the GBA gene and parkinsonism

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The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

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GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology

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Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

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Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways

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Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond

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Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders

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Chaperone-Mediated Autophagy Markers in Parkinson Disease Brains

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Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses

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Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome

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Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

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Clinical and genetic study of Japanese patients with type 3 Gaucher disease

(2009) Asako Tajima et al.   MOLECULAR GENETICS AND METABOLISM

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

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