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Article

Modeling of Menkes disease via human induced pluripotent stem cells.

Biochemical and biophysical research communications - 14 Feb 2014

Suh Ji-Hoon, Kim Dongkyu, Kim Hyemin, Helfman David M, Choi Jin-Ho, Lee Beom Hee, Yoo Han-Wook, Han Yong-Mahn

Abstract excerpt

Menkes disease (MD) is a copper-deficient neurodegenerative disorder that manifests severe neurologic symptoms such as seizures, lethargic states, and hypotonia. Menkes disease is due to a dysfunction of ATP7A, but the pathophysiology of neurologic manifestation is poorly understood during embryonic development. To understand the pathophysiology of neurologic symptoms, molecular and cellular phenotypes were...

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PMID: 24468087
DOI: 10.1016/j.bbrc.2014.01.038

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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