(Q28244287)

2

0 references

Nidhi Gupta

3

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Jae H Choi

4

0 references

Nima Moaven

5

0 references

Wendy Westbroek

6

0 references

Ozlem Goker-Alpan

7

0 references

Ehud Goldin

8

0 references

Barbara K Stubblefield

9

0 references

Edwin Kolodny

10

0 references

Nahid Tayebi

11

0 references

Ellen Sidransky

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

12

0 references

language of work or name

English

0 references

publication date

November 2011

0 references

published in

Human Mutation

0 references

volume

32

0 references

issue

11

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page(s)

1232-8

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196787

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196787

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196787

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196787

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196787

Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196787

Two acidic amino acid residues, Asp(470) and Glu(471), contained in the carboxyl cytoplasmic tail of a major lysosomal membrane protein, LGP85/LIMP II, are important for its accumulation in secondary lysosomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196787

Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196787

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196787

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

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.21566

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.21566

Non-neuronopathic Gaucher disease due to saposin C deficiency.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.21566

Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21796727

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Three unique base pair changes in a family with Gaucher disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21796727

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21796727