MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

(2012) Peter Huppke et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neonatal Erythroderma as a First Manifestation of Menkes Disease

(2012) J. Galve et al.   PEDIATRICS

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

(2011) Ling Yi et al.   HUMAN MOLECULAR GENETICS

ATP7A-related copper transport diseases—emerging concepts and future trends

(2011) Stephen G. Kaler   Nature Reviews Neurology

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy–Walker malformation carrying a de novo 8p deletion

(2011) Ginevra Zanni et al.   NEUROGENETICS

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

(2010) Marina L. Kennerson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Combined zebrafish-yeast chemical-genetic screens reveal gene-copper-nutrition interactions that modulate melanocyte pigmentation

(2010) H. Ishizaki et al.   Disease Models & Mechanisms

Long-term follow-up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation

(2010) Radan Bruha et al.   LIVER INTERNATIONAL

Multiple organelle-targeting signals in the N-terminal portion of peroxisomal membrane protein PMP70

(2009) S. Iwashita et al.   JOURNAL OF BIOCHEMISTRY

Disruption of AP1S1, Causing a Novel Neurocutaneous Syndrome, Perturbs Development of the Skin and Spinal Cord

(2008) Alexandre Montpetit et al.   PLoS Genetics