Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction (Q37977777)

26 August 2017

Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction (English)

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26 August 2017

2

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26 August 2017

Maria Francisca Coutinho

series ordinal

1

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PubMed ID

22266136

26 August 2017

Sandra Alves

series ordinal

3

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26 August 2017

23 December 2011

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Molecular Genetics and Metabolism

26 August 2017

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26 August 2017

105

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26 August 2017

4

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26 August 2017

542-550

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Sorting of lysosomal proteins

26 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Proteomics of the lysosome

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Lysosomal storage disorders: emerging therapeutic options require early diagnosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Characterization of the mannose 6-phosphate-dependent pathway of lysosomal enzyme routing in an invertebrate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

UDP-GlcNAc:Glycoprotein N-acetylglucosamine-1-phosphotransferase mediates the initial step in the formation of the methylphosphomannosyl residues on the high mannose oligosaccharides of Dictyostelium discoideum glycoproteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Structural requirements for efficient processing and activation of recombinant human UDP-N-acetylglucosamine:lysosomal-enzyme-N-acetylglucosamine-1-phosphotransferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Generation of a lysosomal enzyme targeting signal in the secretory protein pepsinogen.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Lysine-based structure in the proregion of procathepsin L is the recognition site for mannose phosphorylation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Multiple signals regulate trafficking of the mannose 6-phosphate-uncovering enzyme

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Human mannose 6-phosphate-uncovering enzyme is synthesized as a proenzyme that is activated by the endoprotease furin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Domain 5 of the cation-independent mannose 6-phosphate receptor preferentially binds phosphodiesters (mannose 6-phosphate N-acetylglucosamine ester).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Structural basis for recognition of phosphodiester-containing lysosomal enzymes by the cation-independent mannose 6-phosphate receptor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

The biogenesis of lysosomes

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Imaging and imagination: understanding the endo-lysosomal system

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Roles for mannose-6-phosphate receptors in lysosomal enzyme sorting, IGF-II binding and clathrin-coat assembly

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Mannose 6-phosphate receptors: new twists in the tale

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Recognition of Dictyostelium discoideum lysosomal enzymes is conferred by the amino-terminal carbohydrate binding site of the insulin-like growth factor II/mannose 6-phosphate receptor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Localization of the carbohydrate recognition sites of the insulin-like growth factor II/mannose 6-phosphate receptor to domains 3 and 9 of the extracytoplasmic region

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

46 kd mannose 6-phosphate receptor: cloning, expression, and homology to the 215 kd mannose 6-phosphate receptor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Rapid equilibrium between monomeric, dimeric and tetrameric forms of the 46-kDa mannose 6-phosphate receptor at 37 degrees C. Possible relation to the function of the receptor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Targeted disruption of the M(r) 46,000 mannose 6-phosphate receptor gene in mice results in misrouting of lysosomal proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Targeted disruption of the mouse cation-dependent mannose 6-phosphate receptor results in partial missorting of multiple lysosomal enzymes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Mouse mutants lacking the cation-independent mannose 6-phosphate/insulin-like growth factor II receptor are impaired in lysosomal enzyme transport: comparison of cation-independent and cation-dependent mannose 6-phosphate receptor-deficient mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Re-expression of the mannose 6-phosphate receptors in receptor-deficient fibroblasts. Complementary function of the two mannose 6-phosphate receptors in lysosomal enzyme targeting

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Treatments for lysosomal storage disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

The genetic mucolipidoses. Diagnosis and differential diagnosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Mannose phosphorylation in health and disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Results of a genome-wide linkage scan for stuttering

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Genomewide significant linkage to stuttering on chromosome 12.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

New complexities in the genetics of stuttering: significant sex-specific linkage signals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Genetic studies of stuttering in a founder population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Mannose 6-phosphate receptor-dependent endocytosis of lysosomal enzymes is increased in sulfatide-storing kidney cells.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Molecular identification of a novel candidate sorting receptor purified from human brain by receptor-associated protein affinity chromatography

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

The 100-kDa neurotensin receptor is gp95/sortilin, a non-G-protein-coupled receptor

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Sortilin/neurotensin receptor-3 binds and mediates degradation of lipoprotein lipase

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

The lysosomal trafficking of sphingolipid activator proteins (SAPs) is mediated by sortilin

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

The lysosomal trafficking of acid sphingomyelinase is mediated by sortilin and mannose 6-phosphate receptor

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

Sortilin mediates the lysosomal targeting of cathepsins D and H

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.12.012

10.1016/J.YMGME.2011.12.012

7 January 2021

Identifiers

DOI

1 reference

26 August 2017

1 reference

PubMed ID

22266136