Neuropathology provides clues to the pathophysiology of Gaucher disease

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Neuropathology provides clues to the pathophysiology of Gaucher disease is …
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scholarly articleQ13442814

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P356DOI10.1016/J.YMGME.2004.04.011
P698PubMed publication ID15234332
P5875ResearchGate publication ID8475079

P50authorRaphael SchiffmannQ91521266
P2093author name stringEllen Sidransky
John M Allman
Ajay Verma
Glenn D Sandberg
Alan Morrison
Alicia Lwin
Carlos Colegial
Kondi Wong
Laura K Wakefield
Tonghui Mixon
P2860cites workSphingolipidosesQ66707026
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Multiple modes of neuronal population activity emerge after modifying specific synapses in a model of the CA3 region of the hippocampusQ67961120
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Columnar organization in the subiculum formed by axon branches originating from single CA1 pyramidal neurons in the rat hippocampusQ69118712
Factors affecting the binding of glucosylceramidase to its natural substrate dispersionQ69393326
Gaucher's Disease: Neurologic Disorder in Adult SiblingsQ69541878
A quantitative analysis of the dendritic organization of pyramidal cells in the rat hippocampusQ70938099
Determination of Gaucher's disease phenotypes with monoclonal antibodyQ71822780
Monoclonal antibodies against human beta-glucocerebrosidaseQ72708933
Local synaptic circuits in rat hippocampus: interactions between pyramidal cellsQ72844362
alpha-Synuclein membrane interactions and lipid specificityQ74071513
The neuropathology of infantile Gaucher's diseaseQ74258136
Feedback connections from area MT of the squirrel monkey to areas V1 and V2Q74267350
Gaucher disease and parkinsonism: a phenotypic and genotypic characterizationQ74386360
Gaucher disease associated with parkinsonism: four further case reportsQ78775965
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locusQ28204048
Stabilization of alpha-synuclein secondary structure upon binding to synthetic membranesQ29617606
Neurological involvement in type 1 (adult) Gaucher's diseaseQ33620764
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's diseaseQ34082413
Management of neuronopathic Gaucher disease: a European consensus.Q34326941
Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher diseaseQ36312252
Axon pathology in Parkinson's disease and Lewy body dementia hippocampus contains alpha-, beta-, and gamma-synucleinQ36677512
Alpha-synuclein, especially the Parkinson's disease-associated mutants, forms pore-like annular and tubular protofibrilsQ39632694
The synaptic nature of the paroxysmal depolarizing shift in hippocampal neuronsQ40079359
Calcium pools mobilized by calcium or inositol 1,4,5-trisphosphate are differentially localized in rat heart and brainQ40241162
Rat brain endoplasmic reticulum calcium pools are anatomically and functionally segregatedQ40641865
Twenty five years of the "psychosine hypothesis": a personal perspective of its history and present statusQ40868687
Activity of the phosphatidylcholine biosynthetic pathway modulates the distribution of fatty acids into glycerolipids in proliferating cells.Q40901145
Both familial Parkinson's disease mutations accelerate alpha-synuclein aggregationQ40964871
Occurrence of Parkinson's syndrome in type I Gaucher diseaseQ41211077
Topographically organized reciprocal connections between areas 17 and MT (visual area of superior temporal sulcus) in the marmoset Callithrix jacchusQ41249040
Lysosphingolipids inhibit protein kinase C: implications for the sphingolipidosesQ41382443
Familial Psychosis and Diverse Neurologic Abnormalities in Adult-Onset Gaucher's DiseaseQ41438249
Giant synaptic potential hypothesis for epileptiform activityQ41648071
alpha-synuclein fibrillogenesis is nucleation-dependent. Implications for the pathogenesis of Parkinson's diseaseQ41676981
Excitatory synaptic interactions between CA3 neurones in the guinea-pig hippocampusQ41904635
Reactions of vessel walls and brain parenchyma to the accumulation of Gaucher cells in the Norrbottnian type (type III) of Gaucher diseaseQ42213816
Type 2 and type 3 Gaucher disease: a morphological and biochemical studyQ42221976
Specificity of human glucosylceramide beta-glucosidase towards synthetic glucosylsphingolipids inserted into liposomes. Kinetic studies in a detergent-free assay systemQ42222879
Neuropathology of the Norrbottnian type of Gaucher disease. Morphological and biochemical studiesQ42251245
Central nervous system involvement in adult-onset Gaucher's diseaseQ42271503
Organization of CA1 projections to the subiculum: A PHA-L analysis in the ratQ42467841
The hippocampal CA3 network: an in vivo intracellular labeling studyQ42504912
Intrinsic connections of macaque striate cortex: afferent and efferent connections of lamina 4C.Q44063118
Solubilization of glucocerebrosidase from human placenta and demonstration of a phospholipid requirement for its catalytic activityQ44113753
Phosphatidylcholine synthesis is elevated in neuronal models of Gaucher disease due to direct activation of CTP:phosphocholine cytidylyltransferase by glucosylceramideQ44132494
Aggresome-related biogenesis of Lewy bodiesQ44242992
Cytotoxicity of ventricular cerebrospinal fluid from Parkinson patients: correlation with clinical profiles and neurochemistry.Q44300712
Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanismsQ44412880
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?Q44479792
Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neuronsQ48153561
Parkinson's syndrome preceding clinical manifestation of Gaucher's diseaseQ48168785
Binding of alpha-synuclein to brain vesicles is abolished by familial Parkinson's disease mutation.Q48384247
Selective neurofibrillary degeneration of the hippocampal CA2 sector is associated with four-repeat tauopathiesQ48425178
Laminar organization of geniculocortical projections in Galago senegalensis and Aotus trivirgatusQ48426246
Thalamic and other subcortical projections to area MT (visual area of superior temporal sulcus) in the marmoset Callithrix jacchusQ48429413
Hippocampal lesions in the neuronal ceroid lipofuscinosesQ48763209
Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findingsQ48820932
Inositol trisphosphate and thapsigargin discriminate endoplasmic reticulum stores of calcium in rat brainQ48875724
Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher diseaseQ49037384
Acute infantile Gaucher's disease in identical twins. An account of clinical and neuropathologic observationsQ49063038
Areal and laminar distribution of neurons interconnecting the central visual cortical areas 17, 18, 19, and MT in squirrel monkey (Saimiri)Q49158667
Coactivation of Local Circuit NMDA Receptor Mediated epsps Induces Lasting Enhancement of Minimal Schaffer Collateral epsps in Slices of Rat HippocampusQ51710723
Membrane binding and self-association of alpha-synucleinsQ52543652
Distinctive neuropathology revealed by α-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4pQ57982330
Selective hippocampal neuron loss in dementia with Lewy bodiesQ59544658
P433issue3
P921main subjectGaucher's diseaseQ861645
pathophysiologyQ1135939
P304page(s)192-207
P577publication date2004-07-01
P1433published inMolecular Genetics and MetabolismQ6895949
P1476titleNeuropathology provides clues to the pathophysiology of Gaucher disease
P478volume82

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