ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A

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

(2013) Diego Martinelli et al.   BRAIN

Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2–, AP-1–, and Rab22-dependent steps

(2013) Zoe G. Holloway et al.   MOLECULAR BIOLOGY OF THE CELL

The clathrin adaptor complexes as a paradigm for membrane-associated allostery

(2013) Bertram J. Canagarajah et al.   PROTEIN SCIENCE

Distinct and Overlapping Roles for AP-1 and GGAs Revealed by the “Knocksideways” System

(2012) Jennifer Hirst et al.   CURRENT BIOLOGY

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

(2011) Ling Yi et al.   HUMAN MOLECULAR GENETICS

Crystal structure of a copper-transporting PIB-type ATPase

(2011) Pontus Gourdon et al.   NATURE

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

(2011) Stephen G. Kaler   Nature Reviews Neurology

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

Human copper homeostasis: a network of interconnected pathways

(2010) Svetlana Lutsenko   CURRENT OPINION IN CHEMICAL BIOLOGY

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Valosin-containing protein disease: Inclusion body myopathy with Paget’s disease of the bone and fronto-temporal dementia

(2009) Conrad C. Weihl et al.   NEUROMUSCULAR DISORDERS