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

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

http://www.wikidata.org/entity/Q37880734

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Glucocerebrosidase is shaking up the synucleinopathies Lysosomal integral membrane protein-2: a new player in lysosome-related pathology Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells Bioanalysis of eukaryotic organelles Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease.Comprehensive functional characterization of murine infantile Batten disease including Parkinson-like behavior and dopaminergic markers.Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum.Lysosomal adaptation: how the lysosome responds to external cues Systems-based analyses of brain regions functionally impacted in Parkinson's disease reveals underlying causal mechanisms Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.Development of targeted therapies for Parkinson's disease and related synucleinopathies The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.An overview on the correlation of neurological disorders with cardiovascular disease.Synthesis and Evaluation of Hybrid Structures Composed of Two Glucosylceramide Synthase Inhibitors.Gaucher-Associated Parkinsonism.Cognitive impairment and dementia in Parkinson's disease: clinical features, diagnosis, and management.Glucocerebrosidase mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease.Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central China α-Synuclein-induced lysosomal dysfunction occurs through disruptions in protein trafficking in human midbrain synucleinopathy models.Quality control gone wrong: mitochondria, lysosomal storage disorders and neurodegeneration.Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations Animal models for Gaucher disease research.Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.Cerebrospinal fluid biomarkers in Parkinson disease.Sphingolipid lysosomal storage disorders.Genetic convergence of Parkinson's disease and lysosomal storage disorders.Endoplasmic reticulum and lysosomal Ca²⁺ stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts.Membrane lipids as therapeutic targets for Parkinson's disease: a possible link between Lewy pathology and membrane lipids.Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance.The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease.Beyond Krabbe's disease: The potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathies A lysosomal lair for a pathogenic protein pair Plasma oligomeric alpha-synuclein is associated with glucocerebrosidase activity in Gaucher disease.The Enigmatic Role of GBA2 in Controlling Locomotor Function.Neurodegenerative disorder with brain iron accumulation previously known as SENDA syndrome now genetically determined.Novel activity-based probes for broad-spectrum profiling of retaining β-exoglucosidases in situ and in vivo.Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease.iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis.Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.

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P2860

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

http://www.wikidata.org/entity/Q37880734

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 26 May 2011

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

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

@en

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

@nl

type

label

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

@en

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

@nl

prefLabel

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

@en

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

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Movement Disorders

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

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Alessandra Recchia

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Annick Raas-Rothschild

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Christoph Wiessner

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Christophe Lo Bianco

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Tamar Shachar

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P2860

Parkinsonism: A Review-of-Systems Approach to Diagnosis

Missing pieces in the Parkinson's disease puzzle

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

Regulation of autophagy by extracellular signal-regulated protein kinases during 1-methyl-4-phenylpyridinium-induced cell death

Alpha-synuclein in Lewy bodies

Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients

Parkinsonism caused by chronic usage of intravenous potassium permanganate

A block of autophagy in lysosomal storage disorders

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1593-1604

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scholarly article

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10.1002/MDS.23774

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9

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26

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Anthony H. Futerman

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2011-05-26T00:00:00Z

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21618611

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P921

Parkinson's disease