(Q37557163)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24127423%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II (English)

1 reference

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27 February 2020

11

1 reference

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27 February 2020

author name string

Katrin Kollmann

1

1 reference

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27 February 2020

Jan Malte Pestka

2

1 reference

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27 February 2020

Sonja Christin Kühn

3

1 reference

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27 February 2020

Elisabeth Schöne

4

1 reference

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27 February 2020

Michaela Schweizer

5

1 reference

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27 February 2020

Kathrin Karkmann

6

1 reference

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27 February 2020

Takanobu Otomo

7

1 reference

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27 February 2020

Philip Catala-Lehnen

8

1 reference

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27 February 2020

Antonio Virgilio Failla

9

1 reference

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27 February 2020

Robert Percy Marshall

10

1 reference

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27 February 2020

Rene Santer

12

1 reference

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27 February 2020

Michael Amling

13

1 reference

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27 February 2020

Thomas Braulke

14

1 reference

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27 February 2020

Thorsten Schinke

15

1 reference

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27 February 2020

publication date

15 October 2013

1 reference

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27 February 2020

published in

EMBO Molecular Medicine

1 reference

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27 February 2020

volume

5

1 reference

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27 February 2020

issue

12

1 reference

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27 February 2020

page(s)

1871-1886

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24127423%20AND%20SRC:MED&resulttype=core&format=json

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

27 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=3914524

Evidence for osteocyte regulation of bone homeostasis through RANKL expression

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Matrix-embedded cells control osteoclast formation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Bisphosphonates: the first 40 years

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Cellular and molecular mechanisms of bone remodeling.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

The natural history and osteodystrophy of mucolipidosis types II and III

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Mannose phosphorylation in health and disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Cholesterol synthesis inhibitor U18666A and the role of sterol metabolism and trafficking in numerous pathophysiological processes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Sorting of lysosomal proteins

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Vesicular trafficking in osteoclasts

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

The high mobility group transcription factor Sox8 is a negative regulator of osteoblast differentiation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Genetic regulation of osteoclast development and function

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Osteoclast differentiation and activation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Gene Expression Omnibus: NCBI gene expression and hybridization array data repository

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Normative data for iliac bone histomorphometry in growing children.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Activated T cells regulate bone loss and joint destruction in adjuvant arthritis through osteoprotegerin ligand

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

A Cbfa1-dependent genetic pathway controls bone formation beyond embryonic development

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Urinary excretion of pyridinium crosslinks in healthy 4-10 year olds

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Interleukin-6 deficient mice are protected from bone loss caused by estrogen depletion

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Cartilage resorption in the tibial epiphyseal plate of growing rats

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Bone histomorphometry: standardization of nomenclature, symbols, and units. Report of the ASBMR Histomorphometry Nomenclature Committee

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Polarized secretion of lysosomal enzymes: co-distribution of cation-independent mannose-6-phosphate receptors and lysosomal enzymes along the osteoclast exocytic pathway

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Osteoclast-derived coupling factors in bone remodeling

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Advances in osteoclast biology: old findings and new insights from mouse models

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Bisphosphonate use in conditions other than osteoporosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Bone disease in primary hyperparathyroidism.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Disruption of the Man-6-P targeting pathway in mice impairs osteoclast secretory lysosome biogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

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

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Mannose 6-phosphate-independent targeting of lysosomal enzymes in I-cell disease B lymphoblasts

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Is movement of mannose 6-phosphate-specific receptor triggered by binding of lysosomal enzymes?

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

IL-6 is produced by osteoblasts and induces bone resorption

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

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

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Endosomal accumulation of Toll-like receptor 4 causes constitutive secretion of cytokines and activation of signal transducers and activators of transcription in Niemann-Pick disease type C (NPC) fibroblasts: a potential basis for glial cell activat

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Impaired skeletal development in interleukin-6-transgenic mice: a model for the impact of chronic inflammation on the growing skeletal system

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Interleukin-6 and interleukin-11 support human osteoclast formation by a RANKL-independent mechanism.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Rescue of the skeletal phenotype of vitamin D receptor-ablated mice in the setting of normal mineral ion homeostasis: formal histomorphometric and biomechanical analyses

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914524

Calcitonin deficiency in mice progressively results in high bone turnover

1 September 2018

1 reference

12 December 2020

Molecular order in mucolipidosis II and III nomenclature

1 reference

12 December 2020

Electron microscopic localization of hydrolytic enzymes in osteoclasts

1 reference

12 December 2020

Proteolysis of Insulin-Like Growth Factors (IGF) and IGF Binding Proteins by Cathepsin D1

1 reference

12 December 2020

The genetic mucolipidoses. Diagnosis and differential diagnosis

1 reference

12 December 2020

Serum concentrations of intact parathyroid hormone in healthy children

1 reference

12 December 2020

The occurrence of specific cytoplasmic granules in the osteoclast

1 reference

12 December 2020

Mucolipidosis II presenting as severe neonatal hyperparathyroidism

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

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

1 reference

12 December 2020

Acid phosphatase of osteoclasts demonstrated by electron microscopic histochemistry

1 reference

12 December 2020

Identifiers

DOI

10.1002/EMMM.201302979

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24127423%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24127423%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

PubMed publication ID

24127423

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24127423%20AND%20SRC:MED&resulttype=core&format=json