(Q53387936)

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Pathogenic LRRK2 mutations, through increased kinase activity, produce enlarged lysosomes with reduced degradative capacity and increase ATP13A2 expression.

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Europe PubMed Central

PubMed publication ID

13 May 2018

http://europepmc.org/abstract/MED/26251043

Pathogenic LRRK2 mutations, through increased kinase activity, produce enlarged lysosomes with reduced degradative capacity and increase ATP13A2 expression. (English)

1 reference

Europe PubMed Central

PubMed publication ID

13 May 2018

http://europepmc.org/abstract/MED/26251043

author name string

Anastasia G Henry

1

1 reference

Europe PubMed Central

PubMed publication ID

13 May 2018

http://europepmc.org/abstract/MED/26251043

Soheil Aghamohammadzadeh

2

1 reference

Europe PubMed Central

PubMed publication ID

13 May 2018

http://europepmc.org/abstract/MED/26251043

Harry Samaroo

3

1 reference

Europe PubMed Central

PubMed publication ID

13 May 2018

http://europepmc.org/abstract/MED/26251043

Yi Chen

4

1 reference

Europe PubMed Central

PubMed publication ID

13 May 2018

http://europepmc.org/abstract/MED/26251043

Kewa Mou

5

1 reference

Europe PubMed Central

PubMed publication ID

13 May 2018

http://europepmc.org/abstract/MED/26251043

Elie Needle

6

1 reference

Europe PubMed Central

PubMed publication ID

13 May 2018

http://europepmc.org/abstract/MED/26251043

Warren D Hirst

7

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Europe PubMed Central

PubMed publication ID

13 May 2018

http://europepmc.org/abstract/MED/26251043

publication date

6 August 2015

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Europe PubMed Central

PubMed publication ID

13 May 2018

http://europepmc.org/abstract/MED/26251043

Human Molecular Genetics

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Europe PubMed Central

PubMed publication ID

13 May 2018

http://europepmc.org/abstract/MED/26251043

24

1 reference

Europe PubMed Central

PubMed publication ID

13 May 2018

http://europepmc.org/abstract/MED/26251043

21

1 reference

Europe PubMed Central

PubMed publication ID

13 May 2018

http://europepmc.org/abstract/MED/26251043

6013-6028

1 reference

Europe PubMed Central

PubMed publication ID

13 May 2018

http://europepmc.org/abstract/MED/26251043

Regulation mechanisms and signaling pathways of autophagy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Lysosomes: fusion and function

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Endocytosis and molecular sorting

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Endosome maturation, transport and functions

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Lysosomes and autophagy in cell death control

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Signals from the lysosome: a control centre for cellular clearance and energy metabolism

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Lysosomal impairment in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Role of endosomes and lysosomes in human disease.

1 reference

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21 January 2018

The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction

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21 January 2018

Inflammation in Alzheimer disease-a brief review of the basic science and clinical literature

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21 January 2018

Alpha-synuclein in Lewy bodies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Pathogenic lysosomal depletion in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Alterations in lysosomal and proteasomal markers in Parkinson's disease: relationship to alpha-synuclein inclusions

1 reference

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21 January 2018

Chaperone-mediated autophagy markers in Parkinson disease brains

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Dysfunction of the autophagy/lysosomal degradation pathway is a shared feature of the genetic synucleinopathies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Analysis of LRRK2 accessory repeat domains: prediction of repeat length, number and sites of Parkinson's disease mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Characterization of a selective inhibitor of the Parkinson's disease kinase LRRK2.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Kinase activity of mutant LRRK2 mediates neuronal toxicity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

LRRK2 regulates synaptic vesicle endocytosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Localization of LRRK2 to membranous and vesicular structures in mammalian brain

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Interplay of LRRK2 with chaperone-mediated autophagy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Dysregulation of lysosomal morphology by pathogenic LRRK2 is corrected by TPC2 inhibition

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Inhibition of LRRK2 kinase activity stimulates macroautophagy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

LRRK2 controls synaptic vesicle storage and mobilization within the recycling pool

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Roles of the Drosophila LRRK2 homolog in Rab7-dependent lysosomal positioning

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

An RNA-sequencing transcriptome and splicing database of glia, neurons, and vascular cells of the cerebral cortex.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Loss of leucine-rich repeat kinase 2 causes age-dependent bi-phasic alterations of the autophagy pathway

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

The LRRK2 G2019S mutant exacerbates basal autophagy through activation of the MEK/ERK pathway

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Leucine-rich repeat kinase 2 regulates autophagy through a calcium-dependent pathway involving NAADP

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

LRRK2 regulates autophagic activity and localizes to specific membrane microdomains in a novel human genomic reporter cellular model

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Role of autophagy in G2019S-LRRK2-associated neurite shortening in differentiated SH-SY5Y cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Loss of leucine-rich repeat kinase 2 causes impairment of protein degradation pathways, accumulation of alpha-synuclein, and apoptotic cell death in aged mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Inhibition of LRRK2 kinase activity leads to dephosphorylation of Ser(910)/Ser(935), disruption of 14-3-3 binding and altered cytoplasmic localization

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Abnormal localization of leucine-rich repeat kinase 2 to the endosomal-lysosomal compartment in lewy body disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Leucine-rich repeat kinase 2 associates with lipid rafts

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Discovery and preclinical profiling of 3-[4-(morpholin-4-yl)-7H-pyrrolo[2,3-d]pyrimidin-5-yl]benzonitrile (PF-06447475), a highly potent, selective, brain penetrant, and in vivo active LRRK2 kinase inhibitor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

LRRK2 kinase activity and biology are not uniformly predicted by its autophosphorylation and cellular phosphorylation site status

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Ser1292 autophosphorylation is an indicator of LRRK2 kinase activity and contributes to the cellular effects of PD mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

ATP13A2 (PARK9) protein levels are reduced in brain tissue of cases with Lewy bodies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Expression analysis of Lrrk1, Lrrk2 and Lrrk2 splice variants in mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

LRRK2 expression in normal and pathologic human brain and in human cell lines

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

LRRK2 inhibition attenuates microglial inflammatory responses

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Mechanisms of Disease: astrocytes in neurodegenerative disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Astrocyte-neuron metabolic relationships: for better and for worse

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Astrocytic expression of Parkinson's disease-related A53T alpha-synuclein causes neurodegeneration in mice.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

The familial Parkinsonism gene LRRK2 regulates neurite process morphology

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Analyzing 54,936 Samples Supports the Association Between CD2AP rs9349407 Polymorphism and Alzheimer's Disease Susceptibility

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

The Parkinson's disease protein LRRK2 impairs proteasome substrate clearance without affecting proteasome catalytic activity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

The R1441C mutation of LRRK2 disrupts GTP hydrolysis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

The Parkinson's disease-associated protein, leucine-rich repeat kinase 2 (LRRK2), is an authentic GTPase that stimulates kinase activity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Insight into the mode of action of the LRRK2 Y1699C pathogenic mutant

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

LRRK2 phosphorylates moesin at threonine-558: characterization of how Parkinson's disease mutants affect kinase activity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

The Roc domain of leucine-rich repeat kinase 2 is sufficient for interaction with microtubules

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

LRRK2 Parkinson disease mutations enhance its microtubule association.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

A QUICK screen for Lrrk2 interaction partners--leucine-rich repeat kinase 2 is involved in actin cytoskeleton dynamics.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Phosphorylation of ezrin/radixin/moesin proteins by LRRK2 promotes the rearrangement of actin cytoskeleton in neuronal morphogenesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

TFEB-mediated autophagy rescues midbrain dopamine neurons from α-synuclein toxicity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Enhanced striatal dopamine transmission and motor performance with LRRK2 overexpression in mice is eliminated by familial Parkinson's disease mutation G2019S

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

LRRK2 knockout mice have an intact dopaminergic system but display alterations in exploratory and motor co-ordination behaviors

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

LRRK2 protein levels are determined by kinase function and are crucial for kidney and lung homeostasis in mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

Restoration of lysosomal pH in RPE cells from cultured human and ABCA4(-/-) mice: pharmacologic approaches and functional recovery

1 reference

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21 January 2018

HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV314

21 January 2018

New assay using fluorogenic substrates and immunofluorescence staining to measure cysteine cathepsin activity in live cell subpopulations

1 reference

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21 January 2018

Autophagic proteolysis of long-lived proteins in nonliver cells.

1 reference

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21 January 2018

A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease

1 reference

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21 January 2018

Identifiers

10.1093/HMG/DDV314

1 reference

Europe PubMed Central

PubMed publication ID

13 May 2018

http://europepmc.org/abstract/MED/26251043

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

13 May 2018

http://europepmc.org/abstract/MED/26251043

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