(Q37329304)

19 August 2017

1 reference

title

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism (English)

1 reference

19 August 2017

1 reference

parkinsonian syndrome

1 reference

John DePaolo

1

1 reference

19 August 2017

Ozlem Goker-Alpan

2

1 reference

19 August 2017

Ted Samaddar

3

1 reference

19 August 2017

Grisel Lopez

4

1 reference

19 August 2017

Ellen Sidransky

5

1 reference

19 August 2017

language of work or name

English

0 references

publication date

1 August 2009

1 reference

19 August 2017

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19 August 2017

24

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19 August 2017

11

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19 August 2017

1571-1578

1 reference

Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Parkinsonism among Gaucher disease carriers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Gaucher disease: complexity in a "simple" disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Glucocerebrosidase mutations in subjects with parkinsonism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

The relationship between Lewy body disease, Parkinson's disease, and Alzheimer's disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Colocalization of Tau and Alpha-Synuclein Epitopes in Lewy Bodies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Olfactory Receptor Database: a metadata-driven automated population from sources of gene and protein sequences

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Fatal attractions: abnormal protein aggregation and neuron death in Parkinson's disease and Lewy body dementia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Alpha-synuclein, especially the Parkinson's disease-associated mutants, forms pore-like annular and tubular protofibrils

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Lipid droplet binding and oligomerization properties of the Parkinson's disease protein alpha-synuclein

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Occurrence of Parkinson's syndrome in type I Gaucher disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Type 2 and type 3 Gaucher disease: a morphological and biochemical study

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

alpha-synuclein is required for the fibrillar nature of ubiquitinated inclusions induced by proteasomal inhibition in primary neurons.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Neuropathology provides clues to the pathophysiology of Gaucher disease

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Accelerated alpha-synuclein fibrillation in crowded milieu

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Vesicle permeabilization by protofibrillar alpha-synuclein is sensitive to Parkinson's disease-linked mutations and occurs by a pore-like mechanism.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Parkinson's syndrome preceding clinical manifestation of Gaucher's disease.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

The pathology of Gaucher disease.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

Analysis of the glucocerebrosidase gene in Parkinson's disease

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2736332

The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

3 December 2018

1 reference

12 December 2020

Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela

1 reference

12 December 2020

Increased incidence of Parkinson disease among relatives of patients with Gaucher disease

1 reference

12 December 2020

Association between Parkinson's disease and glucocerebrosidase mutations in Brazil

1 reference

12 December 2020

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset

1 reference

12 December 2020

[Neurological manifestations in patients with Gaucher disease and in their relatives]

1 reference

12 December 2020

Gaucher disease and parkinsonism: a phenotypic and genotypic characterization

1 reference

12 December 2020

Clinical features of parkinsonian patients with the alpha-synuclein (G209A) mutation

1 reference

12 December 2020

Identifiers

DOI

10.1002/MDS.22538

1 reference

19 August 2017

1 reference

19 August 2017

1 reference