(Q57468485)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30315684%20AND%20SRC:MED&resulttype=core&format=json

28 April 2020

1 reference

8 October 2022

Neurological effects of glucocerebrosidase gene mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30315684%20AND%20SRC:MED&resulttype=core&format=json

28 April 2020

author name string

D Hughes

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30315684%20AND%20SRC:MED&resulttype=core&format=json

28 April 2020

A Mehta

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30315684%20AND%20SRC:MED&resulttype=core&format=json

28 April 2020

language of work or name

English

0 references

publication date

13 December 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30315684%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Neurology

28 April 2020

1 March 2019

1 reference

8 October 2022

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30315684%20AND%20SRC:MED&resulttype=core&format=json

28 April 2020

8 October 2022

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30315684%20AND%20SRC:MED&resulttype=core&format=json

28 April 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30315684%20AND%20SRC:MED&resulttype=core&format=json

28 April 2020

page(s)

388-e29

1 reference

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Creative Commons Attribution

28 April 2020

copyright license

1 reference

8 October 2022

Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings

1 reference

12 December 2020

Toward gene therapy for Gaucher disease

1 reference

12 December 2020

Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease

1 reference

12 December 2020

Gaucher disease--Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment

1 reference

12 December 2020

Neuropathology of the Norrbottnian type of Gaucher disease. Morphological and biochemical studies

1 reference

12 December 2020

Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10.

1 reference

12 December 2020

Alpha-synuclein in Lewy bodies

1 reference

12 December 2020

Retroviral transfer of the glucocerebrosidase gene into CD34+ cells from patients with Gaucher disease: in vivo detection of transduced cells without myeloablation

1 reference

12 December 2020

Oxidative stress induces amyloid-like aggregate formation of NACP/alpha-synuclein in vitro

1 reference

12 December 2020

Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation

1 reference

12 December 2020

Conformational properties of alpha-synuclein in its free and lipid-associated states

1 reference

12 December 2020

Staging of brain pathology related to sporadic Parkinson's disease

1 reference

12 December 2020

Glucocerebrosidase mutation T369M appears to be another polymorphism

1 reference

12 December 2020

α-Synuclein Is Degraded by Both Autophagy and the Proteasome

1 reference

12 December 2020

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

1 reference

12 December 2020

Neuropathology provides clues to the pathophysiology of Gaucher disease

1 reference

12 December 2020

Aggregated alpha-synuclein activates microglia: a process leading to disease progression in Parkinson's disease

1 reference

12 December 2020

Microglial inflammation in the parkinsonian substantia nigra: relationship to alpha-synuclein deposition

1 reference

12 December 2020

Divergent phenotypes in Gaucher disease implicate the role of modifiers

1 reference

12 December 2020

Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease

1 reference

12 December 2020

Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease.

1 reference

12 December 2020

ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity

1 reference

12 December 2020

In vivo imaging of microglial activation with [11C](R)-PK11195 PET in idiopathic Parkinson's disease

1 reference

12 December 2020

Hematologically important mutations: Gaucher disease

1 reference

12 December 2020

Characterization of neuronopathic Gaucher disease among ethnic Poles

1 reference

12 December 2020

Role of cytokines in inflammatory process in Parkinson's disease.

1 reference

12 December 2020

Targeted delivery of proteins across the blood-brain barrier

1 reference

12 December 2020

Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease

1 reference

12 December 2020

Peripheral inflammatory biomarkers and risk of Parkinson's disease

1 reference

12 December 2020

Murine models of acute neuronopathic Gaucher disease

1 reference

12 December 2020

Lewy bodies in grafted neurons in subjects with Parkinson's disease suggest host-to-graft disease propagation

1 reference

12 December 2020

Peripheral cytokines profile in Parkinson's disease.

1 reference

12 December 2020

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III.

1 reference

12 December 2020

Structural insights on physiological functions and pathological effects of alpha-synuclein.

1 reference

12 December 2020

Randomized, controlled trial of miglustat in Gaucher's disease type 3.

1 reference

12 December 2020

Phenotype, diagnosis, and treatment of Gaucher's disease

1 reference

12 December 2020

Biopsies of olfactory epithelium in patients with Parkinson's disease.

1 reference

12 December 2020

On the mechanism of internalization of alpha-synuclein into microglia: roles of ganglioside GM1 and lipid raft

1 reference

12 December 2020

Alpha-synuclein induces migration of BV-2 microglial cells by up-regulation of CD44 and MT1-MMP.

1 reference

12 December 2020

LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

1 reference

12 December 2020

Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria

1 reference

12 December 2020

New strategies for enzyme replacement therapy for lysosomal storage diseases

1 reference

12 December 2020

Alpha-synuclein activates microglia by inducing the expressions of matrix metalloproteinases and the subsequent activation of protease-activated receptor-1.

1 reference

12 December 2020

Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study

1 reference

12 December 2020

Colonic biopsies to assess the neuropathology of Parkinson's disease and its relationship with symptoms

1 reference

12 December 2020

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

1 reference

12 December 2020

CSF from Parkinson disease patients differentially affects cultured microglia and astrocytes.

1 reference

12 December 2020

Immunoprotection against toxic biomarkers is retained during Parkinson's disease progression

1 reference

12 December 2020

Neuroinflammation and α-synuclein dysfunction potentiate each other, driving chronic progression of neurodegeneration in a mouse model of Parkinson's disease.

1 reference

12 December 2020

Alpha-synuclein release by neurons activates the inflammatory response in a microglial cell line.

1 reference

12 December 2020

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies

1 reference

12 December 2020

Alpha-synuclein in colonic submucosa in early untreated Parkinson's disease

1 reference

12 December 2020

The enigma of the E326K mutation in acid β-glucocerebrosidase

1 reference

12 December 2020

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

1 reference

12 December 2020

Animal models for Gaucher disease research

1 reference

12 December 2020

Autonomic involvement in Parkinson's disease: pathology, pathophysiology, clinical features and possible peripheral biomarkers

1 reference

12 December 2020

Invariant natural killer T cells recognize lipid self antigen induced by microbial danger signals

1 reference

12 December 2020

Hyposmia and cognitive impairment in Gaucher disease patients and carriers

1 reference

12 December 2020

The cognitive profile of type 1 Gaucher disease patients

1 reference

12 December 2020

Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups

1 reference

12 December 2020

Intracerebral inoculation of pathological α-synuclein initiates a rapidly progressive neurodegenerative α-synucleinopathy in mice

1 reference

12 December 2020

Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease

1 reference

12 December 2020

An innovative approach to the treatment of Gaucher disease and possibly other metabolic disorders of the brain

1 reference

12 December 2020

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

1 reference

12 December 2020

Meta-analysis of early nonmotor features and risk factors for Parkinson disease

1 reference

12 December 2020

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

1 reference

12 December 2020

Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity.

1 reference

12 December 2020

Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies

1 reference

12 December 2020

Prion-like spreading of pathological α-synuclein in brain

1 reference

12 December 2020

Adaptive changes in autophagy after UPS impairment in Parkinson's disease

1 reference

12 December 2020

Immunological cells and functions in Gaucher disease

1 reference

12 December 2020

Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature

1 reference

12 December 2020

Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations.

1 reference

12 December 2020

Transfer of human α-synuclein from the olfactory bulb to interconnected brain regions in mice

1 reference

12 December 2020

Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients

1 reference

12 December 2020

Saposin C protects glucocerebrosidase against α-synuclein inhibition.

1 reference

12 December 2020

Induction of CNS α-synuclein pathology by fibrillar and non-amyloidogenic recombinant α-synuclein

1 reference

12 December 2020

Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients

1 reference

12 December 2020

Autophagy in aging and neurodegenerative diseases: implications for pathogenesis and therapy

1 reference

12 December 2020

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

1 reference

12 December 2020

Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann–Pick disease type C1 mice

1 reference

12 December 2020

Glucocerebrosidase deficits in sporadic Parkinson disease

1 reference

12 December 2020

CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings

1 reference

12 December 2020

Management of Gaucher disease: enzyme replacement therapy

1 reference

12 December 2020

Inflammation is genetically implicated in Parkinson's disease.

1 reference

12 December 2020

Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort.

1 reference

12 December 2020

Differential effects of severe vs mild GBA mutations on Parkinson disease

1 reference

12 December 2020

Lentiviral gene therapy using cellular promoters cures type 1 Gaucher disease in mice

1 reference

12 December 2020

Progressive decline of glucocerebrosidase in aging and Parkinson's disease.

1 reference

12 December 2020

Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System

1 reference

12 December 2020

Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry

1 reference

12 December 2020

Gaucher disease and comorbidities: B-cell malignancy and parkinsonism

1 reference

12 December 2020

No evidence for substrate accumulation in Parkinson brains with GBA mutations

1 reference

12 December 2020

Tandem Mass Spectrometry Multiplex Analysis of Glucosylceramide and Galactosylceramide Isoforms in Brain Tissues at Different Stages of Parkinson Disease

1 reference

12 December 2020

Mutations of glucocerebrosidase gene and susceptibility to Parkinson's disease: An updated meta-analysis in a European population

1 reference

12 December 2020

Pathological α-synuclein in gastrointestinal tissues from prodromal Parkinson disease patients

1 reference

12 December 2020

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.

1 reference

12 December 2020

Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease

1 reference

12 December 2020

Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt

1 reference

12 December 2020

The contribution of mutant GBA to the development of Parkinson disease in Drosophila.

1 reference

12 December 2020

Lipid microbubbles as a vehicle for targeted drug delivery using focused ultrasound-induced blood-brain barrier opening.

1 reference

12 December 2020

Human gene therapy: novel approaches to improve the current gene delivery systems

1 reference

12 December 2020

Survival and dementia in GBA-associated Parkinson's disease: The mutation matters

1 reference

12 December 2020

Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's

1 reference

12 December 2020

Glucosylceramide synthase inhibition alleviates aberrations in synucleinopathy models

1 reference

12 December 2020

Glucosylsphingosine promotes α-synuclein pathology in mutant GBA-associated Parkinson's disease.

1 reference

12 December 2020

Insights into the structural biology of Gaucher disease

1 reference

12 December 2020

Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis.

1 reference

12 December 2020

Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of the mouse brain.

1 reference

12 December 2020

Identifiers

DOI

10.1111/ENE.13837

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30315684%20AND%20SRC:MED&resulttype=core&format=json

28 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30315684%20AND%20SRC:MED&resulttype=core&format=json

28 April 2020

PubMed publication ID

30315684

1 reference