(Q35121137)

6 August 2017

1 reference

title

Genetic defects in copper metabolism (English)

1 reference

6 August 2017

Genetic Defects in Copper Metabolism (English)

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

30 December 2023

author name string

Hoon Shim

1

1 reference

6 August 2017

Z. Leah Harris

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12730458

30 December 2023

language of work or name

English

0 references

publication date

1 May 2003

1 reference

full work available at URL

6 August 2017

https://academic.oup.com/jn/article-pdf/133/5/1527S/30327149/1527s.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12730458

http://jn.nutrition.org/cgi/content/abstract/133/5_suppl_1/1527S

30 December 2023

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12730458

https://api.elsevier.com/content/article/PII:S0022316622159018?httpAccept=text/xml

30 December 2023

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

https://api.elsevier.com/content/article/PII:S0022316622159018?httpAccept=text/plain

30 December 2023

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

http://academic.oup.com/jn/article-pdf/133/5/1527S/24181123/1527s.pdf

30 December 2023

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

30 December 2023

1 reference

6 August 2017

133

1 reference

6 August 2017

1527S-31S

1 reference

6 August 2017

5 Suppl 1

1 reference

Superoxide dismutase is an abundant component in cell bodies, dendrites, and axons of motor neurons and in a subset of other neurons

6 August 2017

1

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

The role of copper in neurodegenerative disease

30 December 2023

2

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Human whole-body copper metabolism

30 December 2023

3

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Absorption, transport, and hepatic metabolism of copper and zinc: special reference to metallothionein and ceruloplasmin

30 December 2023

4

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

hCTR1: a human gene for copper uptake identified by complementation in yeast

30 December 2023

6

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Isolation of a murine copper transporter gene, tissue specific expression and functional complementation of a yeast copper transport mutant.

30 December 2023

7

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

The copper transporter CTR1 provides an essential function in mammalian embryonic development

30 December 2023

8

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Essential role for mammalian copper transporter Ctr1 in copper homeostasis and embryonic development

30 December 2023

9

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Biochemical characterization and subcellular localization of human copper transporter 1 (hCTR1)

30 December 2023

10

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment

30 December 2023

11

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

The copper chaperone for superoxide dismutase

30 December 2023

12

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Characterization of a novel, membrane-bound, 80-kDa matrix-degrading protease from human breast cancer cells. Monoclonal antibody production, isolation, and localization

30 December 2023

13

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver

30 December 2023

14

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Genetic and molecular basis for copper toxicity

30 December 2023

15

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease).

30 December 2023

17

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

The metallochaperone Atox1 plays a critical role in perinatal copper homeostasis

30 December 2023

19

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Functional studies on the Wilson copper P-type ATPase and toxic milk mouse mutant

30 December 2023

20

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene

30 December 2023

21

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Identification of a new copper metabolism gene by positional cloning in a purebred dog population

30 December 2023

22

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis

30 December 2023

23

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

The role of ceruloplasmin in iron metabolism

30 December 2023

26

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration

30 December 2023

27

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family

30 December 2023

29

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Aceruloplasminemia: molecular characterization of this disorder of iron metabolism

30 December 2023

30

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

30 December 2023

31

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

A nonsense mutation of the ceruloplasmin gene in hereditary ceruloplasmin deficiency with diabetes mellitus

30 December 2023

32

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease.

30 December 2023

34

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

Copper transport and metabolism are normal in aceruloplasminemic mice

30 December 2023

37

1 reference

https://api.crossref.org/works/10.1093/JN/133.5.1527S

30 December 2023

Identifiers

0 references

1 reference