(Q36218735)

12 August 2017

Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice (English)

1 reference

12 August 2017

K Kollmann

1

1 reference

12 August 2017

M Damme

2

1 reference

12 August 2017

S Markmann

3

1 reference

12 August 2017

W Morelle

4

1 reference

12 August 2017

M Schweizer

5

1 reference

12 August 2017

I Hermans-Borgmeyer

6

1 reference

12 August 2017

A K Röchert

7

1 reference

12 August 2017

S Pohl

8

1 reference

12 August 2017

T Lübke

9

1 reference

12 August 2017

J-C Michalski

10

1 reference

12 August 2017

R Käkelä

11

1 reference

12 August 2017

S U Walkley

12

1 reference

12 August 2017

T Braulke

13

1 reference

12 August 2017

language of work or name

English

0 references

publication date

1 September 2012

1 reference

12 August 2017

1 reference

12 August 2017

135

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12 August 2017

2661-2675

1 reference

12 August 2017

Pt 9

1 reference

Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

The cellular pathology of lysosomal diseases

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Cerebellar alterations and gait defects as therapeutic outcome measures for enzyme replacement therapy in α-mannosidosis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Biological function of the cellular lipid BMP-BMP as a key activator for cholesterol sorting and membrane digestion

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Mannose phosphorylation in health and disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Comparative pathology of murine mucolipidosis types II and IIIC

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Lysosomal disorders: from storage to cellular damage

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Secondary lipid accumulation in lysosomal disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Sorting of lysosomal proteins

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Principles of lysosomal membrane degradation: Cellular topology and biochemistry of lysosomal lipid degradation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Proteomics of the lysosome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Essential role for autophagy protein Atg7 in the maintenance of axonal homeostasis and the prevention of axonal degeneration

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Endocytosis provides a major alternative pathway for lysosomal biogenesis in kidney proximal tubular cells

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Identification of sites of mannose 6-phosphorylation on lysosomal proteins

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Lysosomal metabolism of glycoproteins

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Characterization of the N-linked glycans of Giardia intestinalis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

High-efficiency deleter mice show that FLPe is an alternative to Cre-loxP

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Cellular uptake of saposin (SAP) precursor and lysosomal delivery by the low density lipoprotein receptor-related protein (LRP).

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Lysosomal biogenesis in lysosomal storage disorders

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

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

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437033

Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice

29 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS209

Roles for the pro-neurotrophin receptor sortilin in neuronal development, aging and brain injury

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS209

Analysis of phospholipid molecular species in brains from patients with infantile and juvenile neuronal-ceroid lipofuscinosis using liquid chromatography-electrospray ionization mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS209

Maternal Pumilio acts together with Nanos in germline development in Drosophila embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS209

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS209

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/10.1093%2FBRAIN%2FAWS209

Electrospray ionization ion trap mass spectrometry for structural characterization of oligosaccharides derivatized with 2-aminobenzamide

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS209

Neuronal localization and association of Niemann Pick C2 protein (HE1/NPC2) with the postsynaptic density

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS209

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/10.1093%2FBRAIN%2FAWS209

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS209

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

21 January 2018

1 reference

12 December 2020

Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis

1 reference

12 December 2020

Mutant enzymatic and cytological phenotypes in cultured human fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

Mistargeting of lysosomal enzymes in M(r) 46,000 mannose 6-phosphate receptor-deficient mice is compensated by carbohydrate-specific endocytotic receptors

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

I-cell disease. A further report on its pathology

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

10.1093/BRAIN/AWS209

1 reference

12 August 2017

1 reference

12 August 2017

1 reference