Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV. (Q34516832)

2 August 2017

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

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2 August 2017

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Matthew C Micsenyi

1

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2 August 2017

Kostantin Dobrenis

2

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2 August 2017

Gloria Stephney

3

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2 August 2017

James Pickel

4

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2 August 2017

Marie T Vanier

5

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2 August 2017

Susan A Slaugenhaupt

6

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2 August 2017

Steven U Walkley

7

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2 August 2017

1 February 2009

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Journal of Neuropathology & Experimental Neurology

2 August 2017

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2 August 2017

68

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2 August 2017

125-135

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2 August 2017

2

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Frontotemporal lobar degeneration with ubiquitinated tau-negative inclusions and additional alpha-synuclein pathology but also unusual cerebellar ubiquitinated p62-positive, TDP-43-negative inclusions

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

The N-terminus and Phe52 residue of LC3 recruit p62/SQSTM1 into autophagosomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Autophagic dysfunction in mucolipidosis type IV patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Membrane traffic and turnover in TRP-ML1-deficient cells: a revised model for mucolipidosis type IV pathogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Isolated ocular disease is associated with decreased mucolipin-1 channel conductance

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Autophagy in the Pathogenesis of Disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

A block of autophagy in lysosomal storage disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Lysosomes: fusion and function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

TRPML and lysosomal function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Signaling, polyubiquitination, trafficking, and inclusions: sequestosome 1/p62's role in neurodegenerative disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Cation channel activity of mucolipin-1: the effect of calcium.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

CUPpling calcium to lysosomal biogenesis.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

The neurogenetics of mucolipidosis type IV

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Ubiquitin-binding protein p62 is present in neuronal and glial inclusions in human tauopathies and synucleinopathies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Mucolipidosis IV consists of one complementation group

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Cellular pathology of lysosomal storage disorders.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Mucolipidosis IV: morphology and histochemistry of an autopsy case.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Pathobiology of neuronal storage disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Mucolipidosis type IV: Clinical manifestations and natural history

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Low and moderate concentrations of lysobisphosphatidic acid in brain and liver of patients affected by some storage diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Identification of the gene causing mucolipidosis type IV.

7 July 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E3181942CF0

Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E3181942CF0

Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E3181942CF0

Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E3181942CF0

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/10.1097%2FNEN.0B013E3181942CF0

Mitochondrial aberrations in mucolipidosis Type IV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E3181942CF0

Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E3181942CF0

Morphogenesis of Lewy bodies: dissimilar incorporation of alpha-synuclein, ubiquitin, and p62.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232971

Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV

27 October 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E3181942CF0

Elevated lysosomal pH in Mucolipidosis type IV cells

21 January 2018

1 reference

12 December 2020

Mucolipidosis type IV: abnormal transport of lipids to lysosomes

1 reference

12 December 2020

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

1 reference

12 December 2020

Mucolipidosis type IV: a mild form with late onset

1 reference

12 December 2020

Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV

1 reference

12 December 2020

Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis

1 reference

12 December 2020

Phospholipids accumulation in mucolipidosis IV cultured fibroblasts

1 reference

12 December 2020

10.1097/NEN.0B013E3181942CF0

Identifiers

DOI

1 reference

2 August 2017

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2 August 2017

1 reference