(Q45864699)

17 December 2017

title

Pathology of the first autopsy case diagnosed as mucolipidosis type III α/β suggesting autophagic dysfunction (English)

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17 December 2017

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Hiroshi Kobayashi

1

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17 December 2017

Junko Takahashi-Fujigasaki

2

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17 December 2017

Takahiro Fukuda

3

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17 December 2017

Ken Sakurai

4

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17 December 2017

Yohta Shimada

5

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17 December 2017

Koichi Nomura

6

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17 December 2017

Masamichi Ariga

7

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17 December 2017

Toya Ohashi

8

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17 December 2017

Yoshikatsu Eto

9

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17 December 2017

Takanobu Otomo

10

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17 December 2017

Norio Sakai

11

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17 December 2017

Hiroyuki Ida

12

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17 December 2017

publication date

3 November 2010

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17 December 2017

Molecular Genetics and Metabolism

published in

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17 December 2017

volume

102

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17 December 2017

issue

2

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17 December 2017

page(s)

170-175

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17 December 2017

Trafficking of lysosomal enzymes in normal and disease states

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

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

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

Comparative pathology of murine mucolipidosis types II and IIIC

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

Regression of dilated-hypokinetic hypertrophic cardiomyopathy by biventricular cardiac pacing.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

Prevalence, clinical profile, and significance of left ventricular remodeling in the end-stage phase of hypertrophic cardiomyopathy

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

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

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

I-cell disease. A further report on its pathology

7 January 2021

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Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

A block of autophagy in lysosomal storage disorders

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

Altered gene expression in cells from patients with lysosomal storage disorders suggests impairment of the ubiquitin pathway.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

Lysosomal disorders: from storage to cellular damage

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

Cytochemical analysis of storage materials in cultured skin fibroblasts from patients with I-cell disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.014

10.1016/J.YMGME.2010.09.014

7 January 2021

Identifiers

DOI

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17 December 2017

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17 December 2017