Associated Papers
Novel ATP7A Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.
Writzl K et al.
Genes, 2025
Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.
Ovchinnikova EV et al.
International Journal of Molecular Sciences, 2024
Wilson disease-causing mutations in the carboxyl terminus of ATP7B regulates its localization and Golgi exit selectively in the unpolarized cells.
Chakraborty K et al.
Metallomics : Integrated Biometal Science, 2023
Copper homeostasis and the ubiquitin proteasome system.
Zhang B et al.
Metallomics : Integrated Biometal Science, 2023
The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.
Bakkar N et al.
Neurobiology of Disease, 2021
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs.
Perez-Siles G et al.
Disease Models & Mechanisms, 2020
Report of a novel ATP7A mutation causing distal motor neuropathy.
Gualandi F et al.
Neuromuscular Disorders : Nmd, 2019
Interaction between the AAA ATPase p97/VCP and a concealed UBX domain in the copper transporter ATP7A is associated with motor neuron degeneration.
Yi L et al.
The Journal of Biological Chemistry, 2018
In Vivo Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease.
Mercer SW et al.
The Journal of Biological Chemistry, 2017
Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).
Perez-Siles G et al.
Metallomics : Integrated Biometal Science, 2016
Menkes disease: what a multidisciplinary approach can do.
Ojha R et al.
Journal of Multidisciplinary Healthcare, 2016
X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron.
Hodgkinson VL et al.
The Journal of Pathology, 2015
Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking.
Yi L et al.
Human Molecular Genetics, 2015
Wilson's disease and other neurological copper disorders.
Bandmann O et al.
The Lancet. Neurology, 2015
Mottled Mice and Non-Mammalian Models of Menkes Disease.
Lenartowicz M et al.
Frontiers in Molecular Neuroscience, 2015
ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A.
Yi L et al.
Annals of the New York Academy of Sciences, 2014
Golgi in copper homeostasis: a view from the membrane trafficking field.
Polishchuk R et al.
Histochemistry and Cell Biology, 2013
Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2-, AP-1-, and Rab22-dependent steps.
Holloway ZG et al.
Molecular Biology of the Cell, 2013
Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis.
Telianidis J et al.
Frontiers in Aging Neuroscience, 2013
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.
Yi L et al.
Human Molecular Genetics, 2012
Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders.
Merner ND et al.
Clinical Genetics, 2011
ATP7A-related copper transport diseases-emerging concepts and future trends.
Kaler SG
Nature Reviews. Neurology, 2011
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
Kennerson ML et al.
American Journal of Human Genetics, 2010