Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase (Q47716415)

5 February 2018

title

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase (English)

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5 February 2018

Marshall Horwitz

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Kimberly Meade-White

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5 February 2018

author name string

Kathleen F Benson

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Feng-Qian Li

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Richard E Person

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Dalila Albani

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Zhijun Duan

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Jeremy Wechsler

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Kayleen Williams

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Gregory M Acland

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Glenn Niemeyer

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Clinton D Lothrop

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language of work or name

English

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publication date

3 August 2003

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5 February 2018

published in

Nature Genetics

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volume

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issue

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page(s)

90-96

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Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

cites work

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7 January 2021

Characterization of mutant neutrophil elastase in severe congenital neutropenia

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7 January 2021

Cyclic hormonogenesis in gray collie dogs: interactions of hematopoietic and endocrine systems

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Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

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Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2

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Genetic analyses of adaptin function from yeast to mammals.

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Characterization of the adaptor-related protein complex, AP-3

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Molecular bases for the recognition of tyrosine-based sorting signals

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Dileucine-based sorting signals bind to the beta chain of AP-1 at a site distinct and regulated differently from the tyrosine-based motif-binding site

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7 January 2021

The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness

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7 January 2021

Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4

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7 January 2021

Carboxyl-terminal prodomain-deleted human leukocyte elastase and cathepsin G are efficiently targeted to granules and enzymatically activated in the rat basophilic/mast cell line RBL.

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7 January 2021

Distinct granule populations in human neutrophils and lysosomal organelles identified by immuno-electron microscopy

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7 January 2021

Role of neutrophil elastase in bone marrow failure syndromes: molecular genetic revival of the chalone hypothesis

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7 January 2021

Evaluation of methods for the prediction of membrane spanning regions

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7 January 2021

Cell surface-bound elastase and cathepsin G on human neutrophils: a novel, non-oxidative mechanism by which neutrophils focus and preserve catalytic activity of serine proteinases

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7 January 2021

Identification of elastases associated with purified plasma membranes isolated from human monocytes and lymphocytes

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7 January 2021

Human coagulation factor V is activated to the functional cofactor by elastase and cathepsin G expressed at the monocyte surface

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7 January 2021

Activation of progelatinase B by membranes of human polymorphonuclear granulocytes

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7 January 2021

Processing of the human transferrin receptor at distinct positions within the stalk region by neutrophil elastase and cathepsin G.

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7 January 2021

Elastase-like enzymes in human neutrophils localized by ultrastructural cytochemistry

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7 January 2021

Selective plasma membrane permeabilization by freeze-thawing and immunofluorescence epitope access to determine the topology of intracellular membrane proteins

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7 January 2021

Subcellular localization of the small GTPase Rab5a in resting and stimulated human neutrophils.

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7 January 2021

The cytochrome P450 superfamily: biochemistry, evolution and drug metabolism in humans

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7 January 2021

Identifiers

DOI

10.1038/NG1224

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5 February 2018

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5 February 2018