scholarly article | Q13442814 |
P356 | DOI | 10.1111/JNC.13517 |
P698 | PubMed publication ID | 26860955 |
P2093 | author name string | Judith Blanz | |
Paul Saftig | |||
P2860 | cites work | Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease | Q21144949 |
Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease | Q22242985 | ||
Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase | Q22254584 | ||
Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity | Q24290192 | ||
PARIS (ZNF746) repression of PGC-1α contributes to neurodegeneration in Parkinson's disease | Q24294809 | ||
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase | Q24300793 | ||
Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies | Q24307627 | ||
Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2 | Q24315352 | ||
A receptor for the selective uptake and degradation of proteins by lysosomes | Q24319797 | ||
Molecular cloning of cDNA encoding an unrecognized component of amyloid in Alzheimer disease | Q24321355 | ||
Interplay of LRRK2 with chaperone-mediated autophagy | Q24322747 | ||
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure | Q54457927 | ||
Unfolded protein response | Q54488774 | ||
A critical histidine residue within LIMP-2 mediates pH sensitive binding to its ligand β-glucocerebrosidase. | Q54514779 | ||
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease | Q55670967 | ||
Direct Visualization of Saposin Remodelling of Lipid Bilayers | Q56004530 | ||
The role ofSCARB2as susceptibility factor in Parkinson's disease | Q57052388 | ||
The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG) | Q57613018 | ||
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease | Q24324577 | ||
Glycosphingolipid synthesis requires FAPP2 transfer of glucosylceramide | Q24337032 | ||
Glucocerebrosidase is shaking up the synucleinopathies | Q24337392 | ||
Structure of LIMP-2 provides functional insights with implications for SR-BI and CD36 | Q24338905 | ||
A role for a 70-kilodalton heat shock protein in lysosomal degradation of intracellular proteins | Q24339606 | ||
Disrupted autophagy leads to dopaminergic axon and dendrite degeneration and promotes presynaptic accumulation of α-synuclein and LRRK2 in the brain | Q24599233 | ||
The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction | Q24603159 | ||
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. | Q24634577 | ||
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease | Q24656668 | ||
Alpha-synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models | Q24683059 | ||
The role of saposin C in Gaucher disease | Q26862604 | ||
Glucocerebrosidase and Parkinson disease: Recent advances | Q27005669 | ||
Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice | Q27300108 | ||
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease | Q27860459 | ||
alpha-Synuclein locus triplication causes Parkinson's disease | Q27860533 | ||
Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes | Q27932080 | ||
Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity | Q27934988 | ||
Chaperone-mediated autophagy markers in Parkinson disease brains | Q28115026 | ||
Zn²⁺ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation | Q28116171 | ||
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase | Q28116395 | ||
PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity | Q28117134 | ||
ATP13A2/PARK9 regulates secretion of exosomes and α-synuclein | Q28118666 | ||
Loss of autophagy in the central nervous system causes neurodegeneration in mice | Q28131804 | ||
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease | Q28143436 | ||
LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice | Q28181137 | ||
Molecular dissection of autophagy: two ubiquitin-like systems | Q28206420 | ||
Fighting neurodegeneration with rapamycin: mechanistic insights | Q28243647 | ||
A mutation in SCARB2 is a modifier in gaucher disease | Q28244287 | ||
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis | Q28270717 | ||
Glucocerebrosidase mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease | Q36389683 | ||
Genetics of Parkinson disease: paradigm shifts and future prospects. | Q36423921 | ||
The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae | Q36456409 | ||
Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA | Q36487020 | ||
Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity. | Q36554541 | ||
The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi | Q36579554 | ||
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity | Q36595132 | ||
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies | Q36653957 | ||
Influence of microRNA deregulation on chaperone-mediated autophagy and α-synuclein pathology in Parkinson's disease. | Q36738118 | ||
GBA deficiency promotes SNCA/α-synuclein accumulation through autophagic inhibition by inactivated PPP2A. | Q36777244 | ||
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains | Q36801004 | ||
TFEB-mediated autophagy rescues midbrain dopamine neurons from α-synuclein toxicity | Q36835587 | ||
Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors | Q36951293 | ||
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). | Q37109338 | ||
Ambroxol: a CNS drug? | Q37164691 | ||
Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset | Q37180477 | ||
Saposin C protects glucocerebrosidase against α-synuclein inhibition. | Q37324687 | ||
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies | Q37346468 | ||
Lysosomal disorders: from storage to cellular damage | Q37359176 | ||
Gaucher's disease: deficiency of 'acid' -glucosidase and reconstitution of enzyme activity in vitro | Q37491868 | ||
Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. | Q37552855 | ||
Chaperone-mediated autophagy: selectivity pays off. | Q37621744 | ||
Glycosphingolipids--nature, function, and pharmacological modulation. | Q37622816 | ||
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease | Q37687674 | ||
Neuropathic Gaucher disease | Q37827417 | ||
Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease | Q37832784 | ||
Pharmacological chaperone therapy for Gaucher disease: a patent review. | Q37860332 | ||
Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond | Q37880734 | ||
A world of sphingolipids and glycolipids in the brain —Novel functions of simple lipids modified with glucose— | Q38002318 | ||
Gaucher disease paradigm: From ERAD to comorbidity | Q38012690 | ||
Lysosome-dependent pathways as a unifying theme in Parkinson's disease. | Q38038561 | ||
α-Synuclein ubiquitination and novel therapeutic targets for Parkinson's disease. | Q38156223 | ||
Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses | Q38163259 | ||
Extracellular α--synuclein-a novel and crucial factor in Lewy body diseases. | Q38182337 | ||
The significance of GBA for Parkinson's disease | Q38217376 | ||
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease | Q28287883 | ||
Mapping of a gene for Parkinson's disease to chromosome 4q21-q23 | Q28295005 | ||
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells | Q28308084 | ||
Gaucher disease: new molecular approaches to diagnosis and treatment | Q28319913 | ||
Neuropathic Gaucher's disease with normal 4-methylumbelliferyl-beta-glucosidase activity in the liver | Q28331934 | ||
Development and Characterization of a New Parkinson's Disease Model Resulting from Impaired Autophagy | Q28511536 | ||
Impairment of starvation-induced and constitutive autophagy in Atg7-deficient mice | Q28588080 | ||
LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance | Q28588670 | ||
Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport | Q28594812 | ||
Parkin promotes degradation of the mitochondrial pro-apoptotic ARTS protein | Q28727358 | ||
Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy | Q29614178 | ||
Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium | Q29614409 | ||
Parkinson's disease | Q29616302 | ||
Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice | Q30080023 | ||
Murine models of acute neuronopathic Gaucher disease | Q30480646 | ||
LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease | Q30627604 | ||
Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data | Q31072456 | ||
Fluorescence protease protection of GFP chimeras to reveal protein topology and subcellular localization | Q33234344 | ||
Sequence of two alleles responsible for Gaucher disease | Q33498681 | ||
Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals | Q33564845 | ||
Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction | Q33582743 | ||
Neurological involvement in type 1 (adult) Gaucher's disease | Q33620764 | ||
Lysosomal degradation of alpha-synuclein in vivo. | Q33810012 | ||
Parkin-mediated ubiquitination of mutant glucocerebrosidase leads to competition with its substrates PARIS and ARTS | Q33818612 | ||
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes | Q33849233 | ||
The risk of Parkinson's disease in type 1 Gaucher disease | Q33919614 | ||
Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization | Q34037141 | ||
Molecular and cell biology of acid beta-glucosidase and prosaposin | Q34070568 | ||
Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs | Q34165147 | ||
Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase | Q34286005 | ||
Signals from the lysosome: a control centre for cellular clearance and energy metabolism | Q34340780 | ||
Genetics of Parkinson's disease--state of the art, 2013. | Q34386801 | ||
Purification and characterization of a microsomal bile acid beta-glucosidase from human liver | Q34422348 | ||
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 leucocytes | Q48295824 | ||
Genetic analysis of the LAMP-2 gene promoter in patients with sporadic Parkinson's disease | Q48418264 | ||
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders | Q48491146 | ||
Alterations in lysosomal and proteasomal markers in Parkinson's disease: relationship to alpha-synuclein inclusions | Q48581414 | ||
Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha-synuclein | Q48581887 | ||
Differential phenotype in Parkinson's disease patients with severe versus mild GBA mutations | Q48582719 | ||
iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis | Q48729780 | ||
No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease | Q48768126 | ||
Boosting chaperone-mediated autophagy in vivo mitigates α-synuclein-induced neurodegeneration | Q50479107 | ||
Acid β-Glucosidase: Intrinsic Fluorescence and Conformational Changes Induced by Phospholipids and Saposin C | Q50523116 | ||
Isolation of cerebroside containing glucose (Glucosyl ceramide) and its possible significance in ganglioside synthesis | Q51185638 | ||
Neurological Signs in a Juvenile Form of Gaucher's Disease | Q51296293 | ||
Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways | Q51547401 | ||
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 variants | Q53663619 | ||
Gaucher's Disease: A Genetic Disease Detected in Skin Fibroblast Cultures | Q53822815 | ||
Altered expression of autophagic genes in the peripheral leukocytes of patients with sporadic Parkinson's disease | Q54376355 | ||
Gaucher disease: pathological mechanisms and modern management | Q34556549 | ||
The human glucocerebrosidase gene and pseudogene: structure and evolution | Q34561448 | ||
Mutations for Gaucher disease confer high susceptibility to Parkinson disease | Q34607524 | ||
Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage | Q34791322 | ||
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 function | Q34996827 | ||
Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility | Q35112485 | ||
CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy | Q35122963 | ||
α-Synuclein Interacts with Glucocerebrosidase Providing a Molecular Link between Parkinson and Gaucher Diseases | Q35150090 | ||
Loss of glucocerebrosidase 1 activity causes lysosomal dysfunction and α-synuclein aggregation | Q35152964 | ||
Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C. | Q35183019 | ||
A GCase chaperone improves motor function in a mouse model of synucleinopathy | Q35340158 | ||
Parkinsonism among Gaucher disease carriers | Q35444509 | ||
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-synuclein | Q35674483 | ||
Reconstitution of glucosylceramide flip-flop across endoplasmic reticulum: implications for mechanism of glycosphingolipid biosynthesis. | Q35940017 | ||
Exploring the link between glucocerebrosidase mutations and parkinsonism | Q35955350 | ||
Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders | Q35960413 | ||
Parkin loss leads to PARIS-dependent declines in mitochondrial mass and respiration | Q36079187 | ||
Molecular imaging of membrane interfaces reveals mode of beta-glucosidase activation by saposin C. | Q36141456 | ||
Molecular pathophysiology of Parkinson's disease | Q36196507 | ||
Parkinson's disease and α-synuclein expression | Q36346542 | ||
Gaucher-related synucleinopathies: the examination of sporadic neurodegeneration from a rare (disease) angle | Q38312200 | ||
The endosomal pathway in Parkinson's disease. | Q38363403 | ||
Targeted suppression of chaperone-mediated autophagy by miR-320a promotes α-synuclein aggregation | Q38957827 | ||
Cholesterol glucosylation is catalyzed by transglucosylation reaction of β-glucosidase 1. | Q39065310 | ||
Unfolded protein response in Gaucher disease: from human to Drosophila | Q39097940 | ||
The nonlysosomal β-glucosidase GBA2 promotes endoplasmic reticulum stress and impairs tumorigenicity of human melanoma cells | Q39257837 | ||
Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts | Q39360277 | ||
Novel sterol glucosyltransferase in the animal tissue and cultured cells: evidence that glucosylceramide as glucose donor | Q39577291 | ||
Pathogenic lysosomal depletion in Parkinson's disease | Q39655523 | ||
Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease | Q39667264 | ||
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease | Q39678386 | ||
Pre- and post-Golgi translocation of glucosylceramide in glycosphingolipid synthesis. | Q39751424 | ||
Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients | Q40030798 | ||
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 disease | Q41211077 | ||
Familial Psychosis and Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease | Q41438249 | ||
Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models | Q41871999 | ||
Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease | Q41886566 | ||
Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration | Q41887691 | ||
Regional deficiencies in chaperone-mediated autophagy underlie α-synuclein aggregation and neurodegeneration | Q42078692 | ||
Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease | Q42264281 | ||
Central nervous system involvement in adult-onset Gaucher's disease | Q42271503 | ||
Wild type alpha-synuclein is degraded by chaperone-mediated autophagy and macroautophagy in neuronal cells | Q42423397 | ||
No evidence for substrate accumulation in Parkinson brains with GBA mutations | Q42427199 | ||
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 fibroblasts | Q42494101 | ||
Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease | Q42558818 | ||
Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase | Q42763507 | ||
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease | Q42858649 | ||
Regulation of presynaptic neurotransmission by macroautophagy | Q43242957 | ||
Activity of plasma membrane beta-galactosidase and beta-glucosidase | Q43806974 | ||
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype | Q44123131 | ||
Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms | Q44412880 | ||
α-Synuclein Is Degraded by Both Autophagy and the Proteasome | Q44420467 | ||
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 degradation | Q44482194 | ||
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene | Q44601366 | ||
Prediction of severity of Gaucher's disease by identification of mutations at DNA level | Q44628881 | ||
The Sydney multicenter study of Parkinson's disease: the inevitability of dementia at 20 years | Q44801054 | ||
Enhanced calcium release in the acute neuronopathic form of Gaucher disease | Q45223329 | ||
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 chaperones | Q46910143 | ||
Neuropathology provides clues to the pathophysiology of Gaucher disease | Q47247270 | ||
Variation on a theme: identifying sequence variation in disease genes and defining pathogenicity | Q47960683 | ||
Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons | Q48153561 | ||
P407 | language of work or name | English | Q1860 |
P921 | main subject | Parkinson's disease | Q11085 |
Synuclein | Q24767155 | ||
P304 | page(s) | 198-215 | |
P577 | publication date | 2016-02-10 | |
P13046 | publication type of scholarly work | review article | Q7318358 |
P1433 | published in | Journal of Neurochemistry | Q6295643 |
P1476 | title | Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance | |
P478 | volume | 139 Suppl 1 |
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