Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature

(2019) Beyens et al.   Genes

Report of a novel ATP7A mutation causing distal motor neuropathy

(2019) Francesca Gualandi et al.   NEUROMUSCULAR DISORDERS

ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal dopamine-β-hydroxylase

(2018) Katharina Schmidt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Characterizing the molecular phenotype of an Atp7aT985I conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX)

(2016) Gonzalo Perez-Siles et al.   Metallomics

Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking

(2015) Ling Yi et al.   HUMAN MOLECULAR GENETICS

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

(2015) Victoria L Hodgkinson et al.   JOURNAL OF PATHOLOGY

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

(2014) Ling Yi et al.   Annals of the New York Academy of Sciences

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

Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R

(2008) Jingrong Tang et al.   MOLECULAR GENETICS AND METABOLISM

The Erv family of sulfhydryl oxidases

(2007) Deborah Fass   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH