Mutations in a P-type ATPase gene cause axonal degeneration (Q27332275)

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11 February 2020

title

Mutations in a P-type ATPase gene cause axonal degeneration (English)

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ATPase, aminophospholipid transporter-like, class I, type 8A, member 2

11 February 2020

main subject

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GOA release 2020-03-11

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11 February 2020

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11 February 2020

Roderick T Bronson

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11 February 2020

author name string

Wilhelmine N de Vries

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11 February 2020

Richard S Smith

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11 February 2020

Dana L Wright

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11 February 2020

Kevin L Seburn

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11 February 2020

Simon W M John

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11 February 2020

language of work or name

English

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publication date

9 August 2012

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11 February 2020

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11 February 2020

volume

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11 February 2020

issue

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11 February 2020

page(s)

e1002853

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Creative Commons Attribution 4.0 International

11 February 2020

start time

9 August 2012

1 reference

April 2022 Public Data File from Crossref

copyrighted

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cites work

Intracellular phosphatidylserine is essential for retrograde membrane traffic through endosomes

1 reference

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APP binds DR6 to trigger axon pruning and neuron death via distinct caspases

21 March 2017

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The Vac14p-Fig4p complex acts independently of Vac7p and couples PI3,5P2 synthesis and turnover

21 March 2017

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Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

21 March 2017

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Susceptibility to neurodegeneration in a glaucoma is modified by Bax gene dosage

21 March 2017

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Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome

21 March 2017

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Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease

21 March 2017

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An 85-kb tandem triplication in the slow Wallerian degeneration (Wlds) mouse

21 March 2017

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Phosphoinositides in cell regulation and membrane dynamics

21 March 2017

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Role for Drs2p, a P-type ATPase and potential aminophospholipid translocase, in yeast late Golgi function

21 March 2017

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A subfamily of P-type ATPases with aminophospholipid transporting activity

21 March 2017

1 reference

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Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

21 March 2017

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X-linked cholestasis in mouse due to mutations of the P4-ATPase ATP11C

21 March 2017

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A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis

21 March 2017

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Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina

21 March 2017

1 reference

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Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies

21 March 2017

1 reference

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Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J

21 March 2017

1 reference

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Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

21 March 2017

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Genetic and age related models of neurodegeneration in mice: dystrophic axons

21 March 2017

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Atp8a1 deficiency is associated with phosphatidylserine externalization in hippocampus and delayed hippocampus-dependent learning

21 March 2017

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ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes

21 March 2017

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ATP8B1 is essential for maintaining normal hearing

21 March 2017

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A novel aminophospholipid transporter exclusively expressed in spermatozoa is required for membrane lipid asymmetry and normal fertilization

21 March 2017

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Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

21 March 2017

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The P4-type ATPase ATP11C is essential for B lymphopoiesis in adult bone marrow

28 September 2017

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WldS, Nmnats and axon degeneration-progress in the past two decades

28 September 2017

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The Wlds transgene reduces axon loss in a Charcot-Marie-Tooth disease 1A rat model and nicotinamide delays post-traumatic axonal degeneration

28 September 2017

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Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

28 September 2017

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COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review

28 September 2017

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Phosphatidylserine regulation of Ca2+-triggered exocytosis and fusion pores in PC12 cells.

28 September 2017

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Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes

28 September 2017

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P4 ATPases - lipid flippases and their role in disease

28 September 2017

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Function and dysfunction of the PI system in membrane trafficking.

28 September 2017

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Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration

28 September 2017

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Axons of retinal ganglion cells are insulted in the optic nerve early in DBA/2J glaucoma

28 September 2017

1 reference

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An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model

28 September 2017

1 reference

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Phosphoinositide 5-phosphatase Fig 4p is required for both acute rise and subsequent fall in stress-induced phosphatidylinositol 3,5-bisphosphate levels

28 September 2017

1 reference

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The Inheritance of a Retinal Abnormality in White Mice

28 September 2017

1 reference

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Inherited glaucoma in DBA/2J mice: pertinent disease features for studying the neurodegeneration

28 September 2017

1 reference

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Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.

28 September 2017

1 reference

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High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma

28 September 2017

1 reference

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Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis

28 September 2017

1 reference

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Identification of a functional role for lipid asymmetry in biological membranes: Phosphatidylserine-skeletal protein interactions modulate membrane stability

28 September 2017

1 reference

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Wallerian degeneration of injured axons and synapses is delayed by a Ube4b/Nmnat chimeric gene.

28 September 2017

1 reference

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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415440

PCR analysis of DNA from 70-year-old sections of rodless retina demonstrates identity with the mouse rd defect

28 September 2017

1 reference

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Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415440

Critical role of the beta-subunit CDC50A in the stable expression, assembly, subcellular localization, and lipid transport activity of the P4-ATPase ATP8A2

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415440

Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415440

Mice heterozygous for Atp10c, a putative amphipath, represent a novel model of obesity and type 2 diabetes

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415440

A Chinese hamster ovary cell mutant defective in the non-endocytic uptake of fluorescent analogs of phosphatidylserine: isolation using a cytosol acidification protocol

2 June 2018

1 reference

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The wabbler-lethal mouse. An electron microscopic study of the nervous system

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415440

Focal accumulation of phosphorylated neurofilaments within anterior horn cell in familial amyotrophic lateral sclerosis

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415440

Wallerian degeneration in the optic nerve of the wabbler-lethal (wl/wl) mouse

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415440

Axonal degeneration is regulated by the apoptotic machinery or a NAD+-sensitive pathway in insects and mammals

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415440

Role of C. elegans TAT-1 protein in maintaining plasma membrane phosphatidylserine asymmetry.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415440

Retinal ganglion cells downregulate gene expression and lose their axons within the optic nerve head in a mouse glaucoma model.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415440

ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415440

Role of COL4A1 in small-vessel disease and hemorrhagic stroke

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415440

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415440

The slow Wallerian degeneration gene, WldS, inhibits axonal spheroid pathology in gracile axonal dystrophy mice

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415440

Absence of Wallerian Degeneration does not Hinder Regeneration in Peripheral Nerve

27 November 2018

1 reference

12 December 2020

Inhibiting axon degeneration and synapse loss attenuates apoptosis and disease progression in a mouse model of motoneuron disease

1 reference

12 December 2020

Different populations of macrophages use either the vitronectin receptor or the phosphatidylserine receptor to recognize and remove apoptotic cells

1 reference

12 December 2020

Evidence that the Rate of Wallerian Degeneration is Controlled by a Single Autosomal Dominant Gene

1 reference

12 December 2020

RETINAL DEGENERATION IN THE MOUSE: LOCATION OF THE RD LOCUS IN LINKAGE GROUP XVII

1 reference

12 December 2020

Evidence that Very Slow Wallerian Degeneration in C57BL/Ola Mice is an Intrinsic Property of the Peripheral Nerve

1 reference

12 December 2020

Very Slow Retrograde and Wallerian Degeneration in the CNS of C57BL/Ola Mice

1 reference

12 December 2020

Persistence of neuromuscular junctions after axotomy in mice with slow Wallerian degeneration (C57BL/WldS)

1 reference

12 December 2020

Paraphenylenediamine: a new method for tracing human visual pathways

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1002853

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22912588%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22912588%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

22912588

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22912588%20AND%20SRC:MED&resulttype=core&format=json