Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees-Reference-Cited by-同舟云学术

Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees

Published:2018-03 Issue:3 Volume:6 Page:368-380.e6
ISSN:2405-4712
Container-title:Cell Systems
language:en
Short-container-title:Cell Systems

Author:

Zlatic Stephanie A.,Vrailas-Mortimer Alysia,Gokhale Avanti,Carey Lucas J.,Scott Elizabeth,Burch Reid,McCall Morgan M.,Rudin-Rush Samantha,Davis John Bowen,Hartwig Cortnie,Werner Erica,Li Lian,Petris Michael,Faundez Victor

Funder

National Institutes of Health

Goizueta Foundation STEM Success Initiative

Frances Marx Shillinglaw Women in Science

Emory University

Mattel Initiative

Publisher

Elsevier BV

Subject

Cell Biology,Histology,Pathology and Forensic Medicine

Reference86 articles.

1. OMIM.org: Online Mendelian Inheritance in Man (OMIM(R)), an online catalog of human genes and genetic disorders;Amberger;Nucleic Acids Res.,2015

2. Wilson's disease and other neurological copper disorders;Bandmann;Lancet Neurol.,2015

3. The activity of menkes disease protein ATP7A is essential for redox balance in mitochondria;Bhattacharjee;J. Biol. Chem.,2016

4. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration;Bilguvar;Proc. Natl. Acad. Sci. USA,2013

5. ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks;Bindea;Bioinformatics,2009

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