(Q41626358)

English

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).

scientific article published on 13 June 2016

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scholarly article

1 reference

Europe PubMed Central

5 October 2017

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). (English)

1 reference

Europe PubMed Central

5 October 2017

Distal hereditary motor neuropathies

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based on heuristic

inferred from title

Stephan Züchner

10

object named as

Stephan Züchner

1 reference

Europe PubMed Central

5 October 2017

author name string

Gonzalo Perez-Siles

1

1 reference

Europe PubMed Central

5 October 2017

Adrienne Grant

2

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Europe PubMed Central

5 October 2017

Melina Ellis

3

1 reference

Europe PubMed Central

5 October 2017

Carolyn Ly

4

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Europe PubMed Central

5 October 2017

Aditi Kidambi

5

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Europe PubMed Central

5 October 2017

Mamdouh Khalil

6

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Europe PubMed Central

5 October 2017

Roxana M Llanos

7

1 reference

Europe PubMed Central

5 October 2017

Sharon La Fontaine

8

1 reference

Europe PubMed Central

5 October 2017

Alleene V Strickland

9

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Europe PubMed Central

5 October 2017

Sandra Bermeo

11

1 reference

Europe PubMed Central

5 October 2017

Elysia Neist

12

1 reference

Europe PubMed Central

5 October 2017

Tara C Brennan-Speranza

13

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Europe PubMed Central

5 October 2017

Reinaldo I Takata

14

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Europe PubMed Central

5 October 2017

Carlos E Speck-Martins

15

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Europe PubMed Central

5 October 2017

Julian F B Mercer

16

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5 October 2017

Garth A Nicholson

17

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Europe PubMed Central

5 October 2017

Marina L Kennerson

18

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5 October 2017

publication date

13 June 2016

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Europe PubMed Central

5 October 2017

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Europe PubMed Central

5 October 2017

8

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Europe PubMed Central

5 October 2017

9

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5 October 2017

981-992

1 reference

Europe PubMed Central

5 October 2017

Autonomous requirements of the Menkes disease protein in the nervous system

1 reference

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Copper at synapse: Release, binding and modulation of neurotransmission

1 reference

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Metal-deficient SOD1 in amyotrophic lateral sclerosis

1 reference

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X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron

1 reference

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The neuromuscular junction: measuring synapse size, fragmentation and changes in synaptic protein density using confocal fluorescence microscopy

1 reference

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A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease

1 reference

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Morphological analysis of neuromuscular junction development and degeneration in rodent lumbrical muscles.

1 reference

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Metabolism and functions of copper in brain.

1 reference

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An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.

1 reference

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6 October 2017

Copper stabilizes the Menkes copper-transporting ATPase (Atp7a) protein expressed in rat intestinal epithelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

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Immunohistological and electrophysiological evidence that N-acetylaspartylglutamate is a co-transmitter at the vertebrate neuromuscular junction

1 reference

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Osteoblasts mediate the adverse effects of glucocorticoids on fuel metabolism.

1 reference

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6 October 2017

Fiji: an open-source platform for biological-image analysis

1 reference

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6 October 2017

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 October 2017

Crystal structure of a copper-transporting PIB-type ATPase

1 reference

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ApoE isoform-specific regulation of regeneration in the peripheral nervous system

1 reference

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6 October 2017

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

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Myostatin in the pathophysiology of skeletal muscle

1 reference

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Glutamate receptors localize postsynaptically at neuromuscular junctions in mice

1 reference

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Analyzing real-time PCR data by the comparative C(T) method

1 reference

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6 October 2017

ATP7A (Menkes protein) functions in axonal targeting and synaptogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 October 2017

Dynamics of endogenous ATP7A (Menkes protein) in intestinal epithelial cells: copper-dependent redistribution between two intracellular sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 October 2017

Functional copper transport explains neurologic sparing in occipital horn syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 October 2017

Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 October 2017

ATP7B mediates vesicular sequestration of copper: insight into biliary copper excretion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 October 2017

NMDA receptor activation mediates copper homeostasis in hippocampal neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 October 2017

Menkes protein contributes to the function of peptidylglycine alpha-amidating monooxygenase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 October 2017

Metabolic and molecular bases of Menkes disease and occipital horn syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 October 2017

The role of copper in neurodegenerative disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 October 2017

Identification of point mutations in 41 unrelated patients affected with Menkes disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 October 2017

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 October 2017

Aluminum, calcium, and iron in the spinal cord of patients with sporadic amyotrophic lateral sclerosis using laser microprobe mass spectroscopy: a preliminary study

1 reference

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6 October 2017

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 October 2017

Isolation of a partial candidate gene for Menkes disease by positional cloning

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 October 2017

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 October 2017

Diverse mutations in patients with Menkes disease often lead to exon skipping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 October 2017

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

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Copper(II)-induced self-oligomerization of alpha-synuclein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

6 June 2018

Twenty-five novel mutations including duplications in the ATP7A gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

19 August 2018

Dysregulation of iron homeostasis in the CNS contributes to disease progression in a mouse model of amyotrophic lateral sclerosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

19 August 2018

Myogenin regulates a distinct genetic program in adult muscle stem cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

19 August 2018

Copper exposure induces trafficking of the menkes protein in intestinal epithelium of ATP7A transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

19 August 2018

Rapid and robust screening of the Menkes disease/occipital horn syndrome gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5586149

19 August 2018

Activation of ADP-ribosylation factor regulates biogenesis of the ATP7A-containing trans-Golgi network compartment and its Cu-induced trafficking

1 reference

https://api.crossref.org/works/10.1039%2FC6MT00082G

21 January 2018

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1 reference

https://pubmed.ncbi.nlm.nih.gov/27293072

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Simplex PCR assay for sex determination in mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/27293072

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Production of conditional point mutant knockin mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/27293072

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1 reference

https://pubmed.ncbi.nlm.nih.gov/27293072

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based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1039/C6MT00082G

1 reference

Europe PubMed Central

5 October 2017

1 reference

Europe PubMed Central

5 October 2017

1 reference

Europe PubMed Central

5 October 2017

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