Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance

scientific article published on 10 February 2016

Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1111/JNC.13517
P698PubMed publication ID26860955

P2093author name stringJudith Blanz
Paul Saftig
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Impairment of starvation-induced and constitutive autophagy in Atg7-deficient miceQ28588080
LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearanceQ28588670
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Parkin promotes degradation of the mitochondrial pro-apoptotic ARTS proteinQ28727358
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Parkinson's diseaseQ29616302
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Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunctionQ33582743
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Lysosomal degradation of alpha-synuclein in vivo.Q33810012
Parkin-mediated ubiquitination of mutant glucocerebrosidase leads to competition with its substrates PARIS and ARTSQ33818612
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Molecular and cell biology of acid beta-glucosidase and prosaposinQ34070568
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Purification and characterization of a microsomal bile acid beta-glucosidase from human liverQ34422348
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.Q34463167
Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytesQ48295824
Genetic analysis of the LAMP-2 gene promoter in patients with sporadic Parkinson's diseaseQ48418264
Glucocerebrosidase mutations are an important risk factor for Lewy body disordersQ48491146
Alterations in lysosomal and proteasomal markers in Parkinson's disease: relationship to alpha-synuclein inclusionsQ48581414
Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha-synucleinQ48581887
Differential phenotype in Parkinson's disease patients with severe versus mild GBA mutationsQ48582719
iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasisQ48729780
No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher diseaseQ48768126
Boosting chaperone-mediated autophagy in vivo mitigates α-synuclein-induced neurodegenerationQ50479107
Acid β-Glucosidase: Intrinsic Fluorescence and Conformational Changes Induced by Phospholipids and Saposin CQ50523116
Isolation of cerebroside containing glucose (Glucosyl ceramide) and its possible significance in ganglioside synthesisQ51185638
Neurological Signs in a Juvenile Form of Gaucher's DiseaseQ51296293
Characterization of the CLEAR network reveals an integrated control of cellular clearance pathwaysQ51547401
Non-neuronopathic Gaucher disease due to saposin C deficiency.Q53523366
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.Q53650869
Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variantsQ53663619
Gaucher's Disease: A Genetic Disease Detected in Skin Fibroblast CulturesQ53822815
Altered expression of autophagic genes in the peripheral leukocytes of patients with sporadic Parkinson's diseaseQ54376355
Gaucher disease: pathological mechanisms and modern managementQ34556549
The human glucocerebrosidase gene and pseudogene: structure and evolutionQ34561448
Mutations for Gaucher disease confer high susceptibility to Parkinson diseaseQ34607524
Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storageQ34791322
Structural features of membrane-bound glucocerebrosidase and α-synuclein probed by neutron reflectometry and fluorescence spectroscopy.Q34964902
Lysosome biogenesis and lysosomal membrane proteins: trafficking meets functionQ34996827
Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertilityQ35112485
CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathyQ35122963
α-Synuclein Interacts with Glucocerebrosidase Providing a Molecular Link between Parkinson and Gaucher DiseasesQ35150090
Loss of glucocerebrosidase 1 activity causes lysosomal dysfunction and α-synuclein aggregationQ35152964
Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C.Q35183019
A GCase chaperone improves motor function in a mouse model of synucleinopathyQ35340158
Parkinsonism among Gaucher disease carriersQ35444509
Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies.Q35596071
Glucocerebrosidase depletion enhances cell-to-cell transmission of α-synucleinQ35674483
Reconstitution of glucosylceramide flip-flop across endoplasmic reticulum: implications for mechanism of glycosphingolipid biosynthesis.Q35940017
Exploring the link between glucocerebrosidase mutations and parkinsonismQ35955350
Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disordersQ35960413
Parkin loss leads to PARIS-dependent declines in mitochondrial mass and respirationQ36079187
Molecular imaging of membrane interfaces reveals mode of beta-glucosidase activation by saposin C.Q36141456
Molecular pathophysiology of Parkinson's diseaseQ36196507
Parkinson's disease and α-synuclein expressionQ36346542
Gaucher-related synucleinopathies: the examination of sporadic neurodegeneration from a rare (disease) angleQ38312200
The endosomal pathway in Parkinson's disease.Q38363403
Targeted suppression of chaperone-mediated autophagy by miR-320a promotes α-synuclein aggregationQ38957827
Cholesterol glucosylation is catalyzed by transglucosylation reaction of β-glucosidase 1.Q39065310
Unfolded protein response in Gaucher disease: from human to DrosophilaQ39097940
The nonlysosomal β-glucosidase GBA2 promotes endoplasmic reticulum stress and impairs tumorigenicity of human melanoma cellsQ39257837
Cell surface associated glycohydrolases in normal and Gaucher disease fibroblastsQ39360277
Novel sterol glucosyltransferase in the animal tissue and cultured cells: evidence that glucosylceramide as glucose donorQ39577291
Pathogenic lysosomal depletion in Parkinson's diseaseQ39655523
Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's diseaseQ39667264
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher diseaseQ39678386
Pre- and post-Golgi translocation of glucosylceramide in glycosphingolipid synthesis.Q39751424
Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patientsQ40030798
Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3.Q40606943
Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2.Q40685291
Occurrence of Parkinson's syndrome in type I Gaucher diseaseQ41211077
Familial Psychosis and Diverse Neurologic Abnormalities in Adult-Onset Gaucher's DiseaseQ41438249
Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse modelsQ41871999
Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher diseaseQ41886566
Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegenerationQ41887691
Regional deficiencies in chaperone-mediated autophagy underlie α-synuclein aggregation and neurodegenerationQ42078692
Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher diseaseQ42264281
Central nervous system involvement in adult-onset Gaucher's diseaseQ42271503
Wild type alpha-synuclein is degraded by chaperone-mediated autophagy and macroautophagy in neuronal cellsQ42423397
No evidence for substrate accumulation in Parkinson brains with GBA mutationsQ42427199
Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells.Q42478628
Plasma membrane production of ceramide from ganglioside GM3 in human fibroblastsQ42494101
Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher diseaseQ42558818
Ambroxol as a pharmacological chaperone for mutant glucocerebrosidaseQ42763507
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's diseaseQ42858649
Regulation of presynaptic neurotransmission by macroautophagyQ43242957
Activity of plasma membrane beta-galactosidase and beta-glucosidaseQ43806974
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotypeQ44123131
Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanismsQ44412880
α-Synuclein Is Degraded by Both Autophagy and the ProteasomeQ44420467
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?Q44479792
Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradationQ44482194
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase geneQ44601366
Prediction of severity of Gaucher's disease by identification of mutations at DNA levelQ44628881
The Sydney multicenter study of Parkinson's disease: the inevitability of dementia at 20 yearsQ44801054
Enhanced calcium release in the acute neuronopathic form of Gaucher diseaseQ45223329
Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism.Q45940253
Analysis of interactive effect of stretch reflex and shortening reaction on rigidity in Parkinson's disease.Q45987316
ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperonesQ46910143
Neuropathology provides clues to the pathophysiology of Gaucher diseaseQ47247270
Variation on a theme: identifying sequence variation in disease genes and defining pathogenicityQ47960683
Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neuronsQ48153561
P407language of work or nameEnglishQ1860
P921main subjectParkinson's diseaseQ11085
SynucleinQ24767155
P304page(s)198-215
P577publication date2016-02-10
P13046publication type of scholarly workreview articleQ7318358
P1433published inJournal of NeurochemistryQ6295643
P1476titleParkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance
P478volume139 Suppl 1

Reverse relations

cites work (P2860)
Q38825770199 years of Parkinson disease - what have we learned and what is the path to the future?
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