(Q43236847)

English

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

scientific article published on 20 November 2009

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

membrane protein

1 reference

based on heuristic

inferred from title

author name string

Judith Blanz

1

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

Johann Groth

2

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

Christina Zachos

3

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

Christina Wehling

4

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

Paul Saftig

5

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

Michael Schwake

6

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

publication date

20 November 2009

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

19

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

563-572

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

Deafness in LIMP2-deficient mice due to early loss of the potassium channel KCNQ1/KCNE1 in marginal cells of the stria vascularis.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

The CD36, CLA-1 (CD36L1), and LIMPII (CD36L2) gene family: cellular distribution, chromosomal location, and genetic evolution

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

At the acidic edge: emerging functions for lysosomal membrane proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

A role for the lysosomal membrane protein LGP85 in the biogenesis and maintenance of endosomal and lysosomal morphology

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

The NH(2)-terminal transmembrane and lumenal domains of LGP85 are needed for the formation of enlarged endosomes/lysosomes.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

Gaucher disease: multiple lessons from a single gene disorder

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

Predicting coiled coils from protein sequences

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

CD36, a scavenger receptor involved in immunity, metabolism, angiogenesis, and behavior

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

CLA-1 and its splicing variant CLA-2 mediate bacterial adhesion and cytosolic bacterial invasion in mammalian cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

Characterization of CLA-1, a human homologue of rodent scavenger receptor BI, as a receptor for high density lipoprotein and apoptotic thymocytes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

Isolation of the thrombospondin membrane receptor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

Lysosomal integral membrane protein II binds thrombospondin-1. Structure-function homology with the cell adhesion molecule CD36 defines a conserved recognition motif

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

Scavenger receptor B2 is a cellular receptor for enterovirus 71

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP523

21 January 2018

Identifiers

10.1093/HMG/DDP523

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

ResearchGate publication ID

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