Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts (Q43298158)

18 November 2017

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

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18 November 2017

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Takanobu Otomo

1

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18 November 2017

Katsumi Higaki

2

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18 November 2017

Eiji Nanba

3

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18 November 2017

Keiichi Ozono

4

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18 November 2017

Norio Sakai

5

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18 November 2017

7 July 2009

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Molecular Genetics and Metabolism

18 November 2017

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18 November 2017

98

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18 November 2017

4

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18 November 2017

393-399

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

18 November 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

Sorting of lysosomal proteins

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

Autophagy: process and function

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

A block of autophagy in lysosomal storage disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

Structural basis for sorting mechanism of p62 in selective autophagy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

Mitochondrial aberrations in mucolipidosis Type IV.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

3-Methyladenine: specific inhibitor of autophagic/lysosomal protein degradation in isolated rat hepatocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

Lysosomal disorders: from storage to cellular damage

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

Two Beclin 1-binding proteins, Atg14L and Rubicon, reciprocally regulate autophagy at different stages

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

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.2009.07.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

Mitochondrial fragmentation in neurodegeneration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

Mitochondria in the aetiology and pathogenesis of Parkinson's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

I-cell disease: clinical studies of 21 Japanese cases.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.002

inferred from DOI database lookup

7 January 2021

based on heuristic

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DOI

10.1016/J.YMGME.2009.07.002

1 reference

18 November 2017

1 reference