A block of autophagy in lysosomal storage disorders (Q28252016)

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8 January 2020

title

A block of autophagy in lysosomal storage disorders (English)

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8 January 2020

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1

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8 January 2020

Diego Luis Medina

6

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8 January 2020

Carlo Tacchetti

8

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8 January 2020

Andrea Ballabio

10

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8 January 2020

author name string

Alessandro Fraldi

2

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8 January 2020

Luca Jahreiss

3

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8 January 2020

Carmine Spampanato

4

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8 January 2020

Consuelo Venturi

5

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8 January 2020

Raquel de Pablo

7

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8 January 2020

David C Rubinsztein

9

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language of work or name

English

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publication date

3 October 2007

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8 January 2020

published in

Human Molecular Genetics

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8 January 2020

volume

17

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issue

1

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8 January 2020

page(s)

119-129

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The cell biology of lysosomal storage disorders

8 January 2020

cites work

1 reference

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Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery

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Development of motor deficits in a murine model of mucopolysaccharidosis type IIIA (MPS-IIIA).

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Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes

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Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency

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Autophagosome formation in mammalian cells

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The roles of intracellular protein-degradation pathways in neurodegeneration

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Loss of autophagy in the central nervous system causes neurodegeneration in mice

21 January 2018

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

21 January 2018

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The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases

21 January 2018

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Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme

21 January 2018

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A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant

21 January 2018

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LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing

21 January 2018

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Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice

21 January 2018

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Neuronal macroautophagy: from development to degeneration

21 January 2018

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Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy

21 January 2018

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A molecular investigation of true dominance in Huntington's disease

21 January 2018

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α-Synuclein Is Degraded by Both Autophagy and the Proteasome

21 January 2018

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Autophagy in neurodegenerative disease: friend, foe or turncoat?

21 January 2018

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p62 Is a common component of cytoplasmic inclusions in protein aggregation diseases

21 January 2018

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

21 January 2018

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Selective degradation of mitochondria by mitophagy

21 January 2018

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

21 January 2018

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Mitochondrial aberrations in mucolipidosis Type IV.

21 January 2018

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Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis

21 January 2018

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Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease

21 January 2018

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

21 January 2018

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Inhibition of macroautophagy triggers apoptosis

21 January 2018

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Rapamycin pre-treatment protects against apoptosis

21 January 2018

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Proteasomal inhibition leads to formation of ubiquitin/alpha-synuclein-immunoreactive inclusions in PC12 cells

21 January 2018

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Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase

21 January 2018

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Impairment of the ubiquitin-proteasome system by protein aggregation

21 January 2018

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HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDM289

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17913701%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017