(Q41962092)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24212238%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis (English)

1 reference

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29 February 2020

2

1 reference

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29 February 2020

Marco van Eijk

5

1 reference

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29 February 2020

Friederike Zunke

9

1 reference

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29 February 2020

Michael Schwake

10

1 reference

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Maria Clara Pereira Sá Miranda

29 February 2020

11

1 reference

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29 February 2020

Johannes Aerts

12

1 reference

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29 February 2020

author name string

Paulo Gaspar

1

1 reference

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29 February 2020

Anneke Strijland

3

1 reference

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29 February 2020

Saskia Scheij

4

1 reference

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29 February 2020

Jan Aten

6

1 reference

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29 February 2020

Herman S Overkleeft

7

1 reference

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29 February 2020

Andrea Balreira

8

1 reference

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29 February 2020

publication date

8 November 2013

1 reference

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Journal of Lipid Research

29 February 2020

published in

1 reference

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29 February 2020

volume

55

1 reference

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29 February 2020

issue

1

1 reference

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29 February 2020

page(s)

138-145

1 reference

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Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

29 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

Irreversible inhibitors and activity-based probes as research tools in chemical glycobiology.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

The biology of the Gaucher cell: the cradle of human chitinases.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

Substrate reduction therapy of glycosphingolipid storage disorders.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

Plasma and metabolic abnormalities in Gaucher's disease.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

Enhanced lysosomal acidification leads to increased chloroquine accumulation in CHO cells expressing the pfmdr1 gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

A procedure for the rapid purification in high yield of human glucocerebrosidase using immunoaffinity chromatography with monoclonal antibodies.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

Efficient routing of glucocerebrosidase to lysosomes requires complex oligosaccharide chain formation.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

Mannose 6-phosphate-independent targeting of cathepsin D to lysosomes in HepG2 cells

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

Novel activity-based probes for broad-spectrum profiling of retaining β-exoglucosidases in situ and in vivo.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3927471

Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation

18 August 2018

1 reference

12 December 2020

Function of oligosaccharide modification in glucocerebrosidase, a membrane-associated lysosomal hydrolase

1 reference

12 December 2020

Mannose 6-phosphate-independent membrane association of cathepsin D, glucocerebrosidase, and sphingolipid-activating protein in HepG2 cells

1 reference

12 December 2020

The synthetic pathway for glucosylsphingosine in cultured fibroblasts

1 reference

12 December 2020

Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease

1 reference

12 December 2020

HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma

1 reference

12 December 2020

Ultrasensitive in situ visualization of active glucocerebrosidase molecules

1 reference

12 December 2020

Activity-based profiling of retaining β-glucosidases: a comparative study

1 reference

12 December 2020

Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings

1 reference

12 December 2020

The occurrence of two immunologically distinguishable beta-glucocerebrosidases in human spleen

1 reference

12 December 2020

Identifiers

DOI

10.1194/JLR.M043802

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24212238%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

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29 February 2020

PubMed publication ID

24212238

1 reference