Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).

doi:10.1039/c6mt00082g

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).

Metallomics : integrated biometal science - 1 Sept 2016

Perez-Siles Gonzalo, Grant Adrienne, Ellis Melina, Ly Carolyn, Kidambi Aditi, Khalil Mamdouh, Llanos Roxana M, Fontaine Sharon La, Strickland Alleene V, Züchner Stephan, Bermeo Sandra, Neist Elysia, Brennan-Speranza Tara C, Takata Reinaldo I, Speck-Martins Carlos E, Mercer Julian F B, Nicholson Garth A, Kennerson Marina L

Abstract excerpt

ATP7A is a P-type ATPase essential for cellular copper (Cu) transport and homeostasis. Loss-of-function ATP7A mutations causing systemic Cu deficiency are associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome. We previously identified two rare ATP7A missense mutations (P1386S and T994I) leading to a non-fatal form of motor neuron disorder, X-linked distal hereditary motor...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Behavior, Animal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Copper

Share to Copper-Transporting ATPases

Share to Embryo, Mammalian

Share to Genetic Diseases, X-Linked

Share to Motor Neuron Disease

Share to Myogenin

Share to Myostatin

Source

Open in PubMed Open full text

Identifiers

PMID: 27293072
DOI: 10.1039/c6mt00082g
PMCID: PMC5586149

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).PMID 27293072Read ↗

X‐linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuronSemantic proximity Read ↗

Conditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesis.Semantic proximity Read ↗

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs.Semantic proximity Read ↗

Autonomous requirements of the Menkes disease protein in the nervous system.Semantic proximity Read ↗

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.Semantic proximity Read ↗

Mutation spectrum of ATP7A, the gene defective in Menkes disease.Semantic proximity Read ↗

An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.Semantic proximity Read ↗

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.Semantic proximity Read ↗

Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking.Semantic proximity Read ↗

Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies.Semantic proximity Read ↗

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.Semantic proximity Read ↗

The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.