(Q37738863)

English

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

scientific article published on 21 April 2016

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

molecular chaperones

0 references

Parkinson's disease

1 reference

based on heuristic

inferred from title

Gaucher's disease

1 reference

based on heuristic

inferred from title

author name string

Olive Jung

1

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

Samarjit Patnaik

2

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

Juan Marugan

3

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

Ellen Sidransky

4

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

Wendy Westbroek

5

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

publication date

21 April 2016

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

Expert Review of Proteomics

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

13

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

5

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

471-479

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease.

1 reference

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A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment

1 reference

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Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model

1 reference

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Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States

1 reference

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GBA deficiency promotes SNCA/α-synuclein accumulation through autophagic inhibition by inactivated PPP2A.

1 reference

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Inhibitor versus chaperone behaviour of d-fagomine, DAB and LAB sp(2)-iminosugar conjugates against glycosidases: A structure-activity relationship study in Gaucher fibroblasts

1 reference

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Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease

1 reference

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Sustained Systemic Glucocerebrosidase Inhibition Induces Brain α-Synuclein Aggregation, Microglia and Complement C1q Activation in Mice

1 reference

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Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease

1 reference

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Variants associated with Gaucher disease in multiple system atrophy

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Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies.

1 reference

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22 August 2017

Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradation

1 reference

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A GCase chaperone improves motor function in a mouse model of synucleinopathy

1 reference

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Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs

1 reference

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1 reference

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22 August 2017

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

1 reference

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22 August 2017

Glucocerebrosidase is shaking up the synucleinopathies

1 reference

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22 August 2017

Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson's disease

1 reference

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22 August 2017

TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop

1 reference

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22 August 2017

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

1 reference

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Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits

1 reference

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22 August 2017

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

1 reference

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22 August 2017

Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5381920

22 August 2017

Gaucher disease: insights from a rare Mendelian disorder

1 reference

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22 August 2017

The link between the GBA gene and parkinsonism

1 reference

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22 August 2017

Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5381920

22 August 2017

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5381920

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Chaperone-mediated autophagy: a unique way to enter the lysosome world

1 reference

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The transcription factor TFEB links mTORC1 signaling to transcriptional control of lysosome homeostasis

1 reference

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22 August 2017

Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5381920

22 August 2017

Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5381920

22 August 2017

MTORC1 functions as a transcriptional regulator of autophagy by preventing nuclear transport of TFEB.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5381920

22 August 2017

Disruption of protein quality control in Parkinson's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5381920

22 August 2017

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5381920

22 August 2017

High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase

1 reference

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22 August 2017

Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease

1 reference

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22 August 2017

CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy

1 reference

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22 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5381920

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Microautophagy in mammalian cells: revisiting a 40-year-old conundrum

1 reference

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22 August 2017

TFEB links autophagy to lysosomal biogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5381920

22 August 2017

Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse.

1 reference

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22 August 2017

Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity

1 reference

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22 August 2017

Chaperone-mediated autophagy in protein quality control

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5381920

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A monozygotic twin pair with highly discordant Gaucher phenotypes

1 reference

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Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity

1 reference

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Eaten alive: a history of macroautophagy

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22 August 2017

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase

1 reference

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Glycosidase inhibition: assessing mimicry of the transition state

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22 August 2017

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

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The delivery of endocytosed cargo to lysosomes

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22 August 2017

Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease

1 reference

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

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22 August 2017

Review of miglustat for clinical management in Gaucher disease type 1.

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22 August 2017

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

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22 August 2017

Autophagy fights disease through cellular self-digestion

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22 August 2017

Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease

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22 August 2017

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The lysosome turns fifty

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ERAD: the long road to destruction

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Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses

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22 August 2017

Gaucher disease: complexity in a "simple" disorder

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22 August 2017

Enzyme therapy for lysosomal storage disease: principles, practice, and prospects

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22 August 2017

Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease

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22 August 2017

Bone and joint complications related to Gaucher disease

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22 August 2017

The fine structure of the cerebroside occurring in Gaucher's disease

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22 August 2017

Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease

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22 August 2017

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6 September 2017

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

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6 September 2017

Glucocerebrosidase deficits in sporadic Parkinson disease

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6 September 2017

Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expression

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

How I treat Gaucher disease

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6 September 2017

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14 September 2017

A Fluorescent sp2-iminosugar with pharmacological chaperone activity for gaucher disease: synthesis and intracellular distribution studies

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14 September 2017

Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations

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14 September 2017

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23 June 2018

Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease.

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23 June 2018

Fluorescence-quenched substrates for live cell imaging of human glucocerebrosidase activity.

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1 September 2018

Ratiometric two-photon fluorescent probe for quantitative detection of β-galactosidase activity in senescent cells

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1 September 2018

Cognitive impairment in carriers of glucocerebrosidase gene mutation in Parkinson disease patients.

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1 September 2018

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1 September 2018

Uncoupling protein 2 deficiency aggravates astrocytic endoplasmic reticulum stress and nod-like receptor protein 3 inflammasome activation

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1 September 2018

The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice

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1 September 2018

Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism.

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1 September 2018

Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5381920

1 September 2018

Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5381920

1 September 2018

Chemical chaperone therapy: clinical effect in murine G(M1)-gangliosidosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5381920

1 September 2018

Divergent phenotypes in Gaucher disease implicate the role of modifiers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5381920

1 September 2018

Gaucher's disease with Parkinson's disease: clinical and pathological aspects

1 reference

https://api.crossref.org/works/10.1080%2F14789450.2016.1174583

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1080%2F14789450.2016.1174583

21 January 2018

Parkinsonism among Gaucher disease carriers

1 reference

https://api.crossref.org/works/10.1080%2F14789450.2016.1174583

21 January 2018

Glucocerebrosidase mutations in subjects with parkinsonism

1 reference

https://api.crossref.org/works/10.1080%2F14789450.2016.1174583

21 January 2018

Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

1 reference

https://api.crossref.org/works/10.1080%2F14789450.2016.1174583

21 January 2018

Glucocerebrosidase mutations in Thai patients with Parkinson's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/27098312

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lysosomal accumulation of Trk protein in brain of GM₁ -gangliosidosis mouse and its restoration by chemical chaperone

1 reference

https://pubmed.ncbi.nlm.nih.gov/27098312

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Twin pairs showing discordance of phenotype in adult Gaucher's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/27098312

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Design and synthesis of highly potent and selective pharmacological chaperones for the treatment of Gaucher's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/27098312

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrasensitive in situ visualization of active glucocerebrosidase molecules

1 reference

https://pubmed.ncbi.nlm.nih.gov/27098312

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/27098312

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1080/14789450.2016.1174583

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

22 August 2017

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