Gaucher disease paradigm: from ERAD to comorbidity (Q38012690)

27 August 2017

title

Gaucher disease paradigm: from ERAD to comorbidity (English)

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27 August 2017

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Inna Bendikov-Bar

1

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27 August 2017

Mia Horowitz

series ordinal

2

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27 August 2017

publication date

11 June 2012

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27 August 2017

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27 August 2017

volume

33

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27 August 2017

issue

10

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27 August 2017

page(s)

1398-1407

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

27 August 2017

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Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing.

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New glucocerebrosidase inhibitors by exploration of chemical diversity of N-substituted aminocyclitols using click chemistry and in situ screening

21 January 2018

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A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

21 January 2018

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Accumulation of protein-bound epidermal glucosylceramides in beta-glucocerebrosidase deficient type 2 Gaucher mice.

21 January 2018

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Glucosidase acid beta gene mutations in Egyptian children with Gaucher disease and relation to disease phenotypes

21 January 2018

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No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease

21 January 2018

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Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy

21 January 2018

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PINK1-parkin-dependent mitophagy involves ubiquitination of mitofusins 1 and 2: Implications for Parkinson disease pathogenesis

21 January 2018

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Rapid assembly of a library of lipophilic iminosugars via the thiol-ene reaction yields promising pharmacological chaperones for the treatment of Gaucher disease

21 January 2018

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

21 January 2018

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Phenotype, diagnosis, and treatment of Gaucher's disease

21 January 2018

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Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity

21 January 2018

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Aberrant retention of tyrosinase in the endoplasmic reticulum mediates accelerated degradation of the enzyme and contributes to the dedifferentiated phenotype of amelanotic melanoma cells

21 January 2018

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Roles of N-linked glycans in the endoplasmic reticulum

21 January 2018

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21 January 2018

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Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

Mechanism and components of endoplasmic reticulum-associated degradation

21 January 2018

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

21 January 2018

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Protein dislocation from the ER requires polyubiquitination and the AAA-ATPase Cdc48.

21 January 2018

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Multiple proteolytic systems, including the proteasome, contribute to CFTR processing

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

The unfolded protein response is required to maintain the integrity of the endoplasmic reticulum, prevent oxidative stress and preserve differentiation in β-cells

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

Identification of Gaucher disease mutations found in Saudi Arabia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

COPII-cargo interactions direct protein sorting into ER-derived transport vesicles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Risk of malignant disease among 1525 adult male US Veterans with Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Disease-causing mutations in parkin impair mitochondrial ubiquitination, aggregation, and HDAC6-dependent mitophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

A membrane protein required for dislocation of misfolded proteins from the ER

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

Association between early-onset Parkinson's disease and mutations in the parkin gene

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

Collodion babies with Gaucher's disease

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

Characterization of glycoproteins and their associated oligosaccharides through the use of endoglycosidases

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

BiP acts as a molecular ratchet during posttranslational transport of prepro-alpha factor across the ER membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

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

21 January 2018

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Assembly of ER-associated protein degradation in vitro: dependence on cytosol, calnexin, and ATP.

21 January 2018

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Progress in the pathogenesis and genetics of Parkinson's disease

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

Molecular pathophysiology of Parkinson's disease

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

A high throughput glucocerebrosidase assay using the natural substrate glucosylceramide

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Chemical and biological approaches synergize to ameliorate protein-folding diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Structure of full-length cDNA coding for sulfatide activator, a Co-beta-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Parkin is recruited selectively to impaired mitochondria and promotes their autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Endoplasmic reticulum Ca2+ increases enhance mutant glucocerebrosidase proteostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Overexpression of human glucocerebrosidase containing different-sized leaders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Enhanced calcium release in the acute neuronopathic form of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Polyubiquitin chains: polymeric protein signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Sec61p mediates export of a misfolded secretory protein from the endoplasmic reticulum to the cytosol for degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Structural analysis of the human glucocerebrosidase genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Molecular cloning of a human co-beta-glucosidase cDNA: evidence that four sphingolipid hydrolase activator proteins are encoded by single genes in humans and rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Gaucher disease and cancer incidence: a study from the Gaucher Registry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Role of Sec61p in the ER-associated degradation of short-lived transmembrane proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Ubiquitin ligase gp78 increases solubility and facilitates degradation of the Z variant of alpha-1-antitrypsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

CHOP/GADD153 is a mediator of apoptotic death in substantia nigra dopamine neurons in an in vivo neurotoxin model of parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

alpha-Synuclein in filamentous inclusions of Lewy bodies from Parkinson's disease and dementia with lewy bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

Type 2 gaucher disease: an expanding phenotype

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

21 January 2018

1 reference

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Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals

21 January 2018

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Non-neuronopathic Gaucher disease due to saposin C deficiency.

21 January 2018

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A mutation in SCARB2 is a modifier in Gaucher disease

21 January 2018

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One step at a time: endoplasmic reticulum-associated degradation

21 January 2018

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Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts

21 January 2018

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ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones

21 January 2018

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Sec61p is required for ERAD-L: genetic dissection of the translocation and ERAD-L functions of Sec61P using novel derivatives of CPY.

21 January 2018

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Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease

21 January 2018

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Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models

21 January 2018

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A membrane protein complex mediates retro-translocation from the ER lumen into the cytosol

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

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

21 January 2018

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How I treat Gaucher disease

21 January 2018

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Differential expression of the human glucocerebrosidase-coding gene

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22124

Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies

21 January 2018

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7 January 2021

Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant

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7 January 2021

Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC)

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7 January 2021

Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients

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7 January 2021

Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant

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7 January 2021

Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder

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7 January 2021

Increased incidence of cancer in adult Gaucher disease in Western Europe

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7 January 2021

Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene

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7 January 2021

Prevalent and rare mutations among Gaucher patients

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7 January 2021

The precursor of sulfatide activator protein is processed to three different proteins

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7 January 2021

Identification of a novel mutation, I403T, in Cuban type 1 Gaucher disease

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7 January 2021

N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease

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7 January 2021

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

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7 January 2021

Increased risk of cancer in patients with Gaucher disease

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https://api.crossref.org/works/10.1002%2FHUMU.22124

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.22124

7 January 2021

Gaucher disease and parkinsonism: a phenotypic and genotypic characterization

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https://api.crossref.org/works/10.1002%2FHUMU.22124

7 January 2021

Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22124

7 January 2021

Identifiers

DOI

10.1002/HUMU.22124

1 reference

27 August 2017

1 reference