(Q48866961)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21965301%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21965301%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

1

1 reference

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13 February 2020

Toshimitsu Suzuki

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21965301%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Kazuhiro Yamakawa

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21965301%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

author name string

Subramaniam Ganesh

series ordinal

4

1 reference

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13 February 2020

publication date

30 September 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21965301%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

published in

Human Molecular Genetics

1 reference

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13 February 2020

volume

21

1 reference

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13 February 2020

issue

1

1 reference

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13 February 2020

page(s)

175-184

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21965301%20AND%20SRC:MED&resulttype=core&format=json

Advances in the genetics of progressive myoclonus epilepsy

13 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Phosphate incorporation during glycogen synthesis and Lafora disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Abnormal metabolism of glycogen phosphate as a cause for Lafora disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Glycogen hyperphosphorylation underlies lafora body formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Malin and laforin are essential components of a protein complex that protects cells from thermal stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Laforin, the most common protein mutated in Lafora disease, regulates autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Bcl-2 antiapoptotic proteins inhibit Beclin 1-dependent autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Potential therapeutic applications of autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

mTOR regulation of autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

PRAS40 regulates mTORC1 kinase activity by functioning as a direct inhibitor of substrate binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Lysosomal proteolysis inhibition selectively disrupts axonal transport of degradative organelles and causes an Alzheimer's-like axonal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

At the acidic edge: emerging functions for lysosomal membrane proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Reversal of autophagy dysfunction in the TgCRND8 mouse model of Alzheimer's disease ameliorates amyloid pathologies and memory deficits

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

The autophagic and endocytic pathways converge at the nascent autophagic vacuoles

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Autophagosome formation: core machinery and adaptations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Mechanisms of endocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Rab GTPases as coordinators of vesicle traffic

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Role of Rab GTPases in membrane traffic and cell physiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Rab5 modulates aggregation and toxicity of mutant huntingtin through macroautophagy in cell and fly models of Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Rab7 regulates late endocytic trafficking downstream of multivesicular body biogenesis and cargo sequestration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Tau fragmentation, aggregation and clearance: the dual role of lysosomal processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Increased E4 activity in mice leads to ubiquitin-containing aggregates and degeneration of hypothalamic neurons resulting in obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Laforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Laforin in autophagy: a possible link between carbohydrate and protein in Lafora disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

p62 at the crossroads of autophagy, apoptosis, and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Coordination of membrane events during autophagy by multiple class III PI3-kinase complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Microarray analysis of hippocampal CA1 neurons implicates early endosomal dysfunction during Alzheimer's disease progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Regional selectivity of rab5 and rab7 protein upregulation in mild cognitive impairment and Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Endocytic pathway abnormalities precede amyloid beta deposition in sporadic Alzheimer's disease and Down syndrome: differential effects of APOE genotype and presenilin mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Rab5-stimulated up-regulation of the endocytic pathway increases intracellular beta-cleaved amyloid precursor protein carboxyl-terminal fragment levels and Abeta production

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Endosome function and dysfunction in Alzheimer's disease and other neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

The proteasome alpha-subunit XAPC7 interacts specifically with Rab7 and late endosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Essential role of the unfolded protein response regulator GRP78/BiP in protection from neuronal apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Dynein mutations impair autophagic clearance of aggregate-prone proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

The endosomal-lysosomal system of neurons in Alzheimer's disease pathogenesis: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

Proteasomes remain intact, but show early focal alteration in their composition in a mouse model of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR452

21 January 2018

Identifiers

DOI

10.1093/HMG/DDR452

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21965301%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference