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

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

Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain

(2010) Anthony Donsante et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Copper Metallochaperones

(2010) Nigel J. Robinson et al.   Annual Review of Biochemistry

Cardiac Copper Deficiency Activates a Systemic Signaling Mechanism that Communicates with the Copper Acquisition and Storage Organs

(2010) Byung-Eun Kim et al.   Cell Metabolism

Cellular copper distribution: a mechanistic systems biology approach

(2010) Lucia Banci et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Occipital horn syndrome: report of a patient and review of the literature

(2010) Masato Tsukahara et al.   CLINICAL GENETICS

Molecular mechanisms of copper homeostasis

(2010) Vasiliki Lalioti   Frontiers in Bioscience-Landmark

Molecular correlates of epilepsy in early diagnosed and treated Menkes disease

(2010) Stephen G. Kaler et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Long-term skeletal findings in Menkes disease

(2010) Eva Amador et al.   PEDIATRIC RADIOLOGY

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease

(2009) Stephen G. Kaler et al.   ANNALS OF NEUROLOGY

Rab7 and the CMT2B disease

(2009) Laura Cogli et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Molecular diagnosis of Menkes disease: Genotype–phenotype correlation

(2009) Lisbeth Birk Møller et al.   BIOCHIMIE

The multi-layered regulation of copper translocating P-type ATPases

(2009) Nicholas A. Veldhuis et al.   BIOMETALS

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway

(2009) Vincenzo Lupo et al.   HUMAN MOLECULAR GENETICS

Mistargeting of SH3TC2 away from the recycling endosome causes Charcot–Marie–Tooth disease type 4C

(2009) Rhys C. Roberts et al.   HUMAN MOLECULAR GENETICS

A Role for the ATP7A Copper-transporting ATPase in Macrophage Bactericidal Activity

(2009) Carine White et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural organization of human Cu-transporting ATPases: learning from building blocks

(2009) Amanda N. Barry et al.   JOURNAL OF BIOLOGICAL INORGANIC CHEMISTRY

Axonal sensory motor neuropathy in copper-deficient Wilson's disease

(2009) Alexandra Foubert-Samier et al.   MUSCLE & NERVE

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

(2009) Michaela Auer-Grumbach et al.   NATURE GENETICS

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

(2009) Patrick A. Dion et al.   NATURE REVIEWS GENETICS

Interactions of peptide amidation and copper: Novel biomarkers and mechanisms of neural dysfunction

(2009) Danielle Bousquet-Moore et al.   NEUROBIOLOGY OF DISEASE

Relative Efficiencies of Plasma Catechol Levels and Ratios for Neonatal Diagnosis of Menkes Disease

(2009) David S. Goldstein et al.   NEUROCHEMICAL RESEARCH

X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21

(2009) M. Kennerson et al.   NEUROLOGY

New developments in the regulation of intestinal copper absorption

(2009) Peter VE van den Berghe et al.   NUTRITION REVIEWS

When metals compete: a case of copper-deficiency myeloneuropathy and anemia

(2009) Rebecca I Spain et al.   Nature clinical practice. Neurology

Copper transport to the brain by the blood-brain barrier and blood-CSF barrier

(2008) Byung-Sun Choi et al.   BRAIN RESEARCH

Role of copper transporters in resistance to platinating agents

(2008) Cara A. Rabik et al.   CANCER CHEMOTHERAPY AND PHARMACOLOGY

Molecular mechanisms of inherited demyelinating neuropathies

(2008) Steven S. Scherer et al.   GLIA

Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system

(2008) Gloria Hsi et al.   HUMAN MUTATION

Role of Menkes ATPase in Angiotensin II-Induced Hypertension

(2008) Zhenyu Qin et al.   HYPERTENSION

Clinical and electrodiagnostic findings in copper deficiency myeloneuropathy

(2008) B P Goodman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Case of sensory ataxic ganglionopathy–myelopathy in copper deficiency

(2008) Gabriella Zara et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A functional equivalent of endoplasmic reticulum and Golgi in axons for secretion of locally synthesized proteins

(2008) Tanuja T. Merianda et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

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

Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes

(2008) Subba Rao Gangi Setty et al.   NATURE

Mechanisms for copper acquisition, distribution and regulation

(2008) Byung-Eun Kim et al.   Nature Chemical Biology

Neonatal Diagnosis and Treatment of Menkes Disease

(2008) Stephen G. Kaler et al.   NEW ENGLAND JOURNAL OF MEDICINE

In vivo correction of a Menkes disease model using antisense oligonucleotides

(2008) E. C. Madsen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Zebrafish Mutants calamity and catastrophe Define Critical Pathways of Gene–Nutrient Interactions in Developmental Copper Metabolism

(2008) Erik C. Madsen et al.   PLoS Genetics