(Q34244952)

31 July 2017

title

A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology (English)

1 reference

31 July 2017

Benjamin Edwards

6

0 references

Frances Platt

object named as

Frances M Platt

7

0 references

Kay Davies

8

object named as

Kay E Davies

1 reference

31 July 2017

Peter L Oliver

5

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author name string

Leigh Paton

1

1 reference

31 July 2017

Emmanuelle Bitoun

2

1 reference

31 July 2017

Janet Kenyon

3

1 reference

31 July 2017

David A Priestman

4

1 reference

31 July 2017

language of work or name

English

0 references

publication date

8 August 2014

1 reference

31 July 2017

number of pages

13

1 reference

Journal of Biological Chemistry

inferred from page(s)

published in

1 reference

31 July 2017

volume

289

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31 July 2017

issue

39

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31 July 2017

page(s)

26709-26721

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describes a project that uses

31 July 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4175314/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

GluN1 hypomorph mice exhibit wide-ranging behavioral alterations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

The cellular pathology of lysosomal diseases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

The role of habituation in hippocampus-dependent spatial working memory tasks: evidence from GluA1 AMPA receptor subunit knockout mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

A simple composite phenotype scoring system for evaluating mouse models of cerebellar ataxia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Comparative pathology of murine mucolipidosis types II and IIIC

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Sorting of lysosomal proteins

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Proteomics of the lysosome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

CatWalk-assisted gait analysis in the assessment of spinal cord injury

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Identification of sites of mannose 6-phosphorylation on lysosomal proteins

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

The mechanisms of vesicle budding and fusion

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Motor performance and regional brain metabolism of spontaneous murine mutations with cerebellar atrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Mechanisms of motor learning in the cerebellum

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Anatomic organization of the basilar pontine projections from prefrontal cortices in rhesus monkey.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Circuitry of the frontal association cortex and its relevance to dementia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

An emerging concept. The cerebellar contribution to higher function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Clinical Aspects of Niemann-Pick Type C Disease in the Adult

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Ectopic dendrites occur only on cortical pyramidal cells containing elevated GM2 ganglioside in alpha-mannosidosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

Phosphohexosyl recognition is a general characteristic of pinocytosis of lysosomal glycosidases by human fibroblasts

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

I-cell disease (mucolipidosis II):a report on its pathology

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

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

28 July 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.586156

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.586156

Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.586156

Automated quantitative gait analysis during overground locomotion in the rat: its application to spinal cord contusion and transection injuries

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.586156

Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.586156

MPTP potentiates 3-nitropropionic acid-induced striatal damage in mice: reference to striatonigral degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.586156

Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependent

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.586156

Cerebellar degeneration in the Niemann-Pick type C mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.586156

Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.586156

Mental retardation and epilepsy in patients with isolated cerebellar hypoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.586156

Genetic approaches to molecular and cellular cognition: a focus on LTP and learning and memory

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.586156

Deficiency of UDP-N-acetylglucosamine: Lysosomal enzyme N-acetylglucosamine-1-phosphotransferase in organs of I-cell patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.586156

Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.586156

Role of cytoplasmic C-terminal amino acids of membrane proteins in ER export.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4175314

A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands

28 October 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.586156

"I-cell" disease: leakage of lysosomal enzymes into extracellular fluids

21 January 2018

1 reference

12 December 2020

Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype

1 reference

12 December 2020

Cerebellar involvement in murine sphingomyelinosis: a new model of Niemann-Pick disease

1 reference

12 December 2020

Mutant enzymatic and cytological phenotypes in cultured human fibroblasts

1 reference

12 December 2020

1 reference

12 December 2020

Spontaneous mucolipidosis in a cat: an animal model of human I-cell disease

1 reference

12 December 2020

The genetic mucolipidoses. Diagnosis and differential diagnosis

1 reference

12 December 2020

Is there a mechanism for introducing acid hydrolases into liver lysosomes that is independent of mannose 6-phosphate recognition? Evidence from I-cell disease

1 reference

12 December 2020

Identifiers

DOI

10.1074/JBC.M114.586156

1 reference

31 July 2017

1 reference

31 July 2017

1 reference