Evidence map›Paper›PMID 41213165›Full record

ReviewPhysiology (Bethesda, Md.)2026

Copper in Human Health and Disease: Insights from Inherited Disorders.

Raffaella Petruzzelli, Elena V Polishchuk, Roman S Polishchuk

Abstract readReview
In one paragraph

Review in Physiology (Bethesda, Md.), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed.

  1. Review
  2. Review
  3. From copper imbalance to immunometabolic remodeling: cuproptosis-related vulnerability and therapeutic hypotheses in autoimmune diseases.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026
    Review
  4. Review
  5. Review
  6. Article
  7. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Raffaella PetruzzelliTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.ORCID 0000-0003-2868-4486
Elena V PolishchukTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
Roman S PolishchukTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.ORCID 0000-0002-7698-1955

Funding

EC | NextGenerationEU (NGEU) PE0000006European Joint Project -Rare Disease WilsonMedFondazione AIRC per la ricerca sul cancro ETS (AIRC) IG 17118Fondazione Telethon (FT) TGM22CBDM05Wilson Disease Organization
6 · The paper itself

Abstract

In recent years, our understanding of copper metabolism in humans has advanced considerably, driven in large part by insights from genetic disorders. Studies of Menkes disease, Wilson disease, MEDNIK (mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia) and KIDAR (autosomal recessive keratitis, ichthyosis, deafness) syndromes, and most recently CTR1 deficiency, have illuminated the fundamental principles of copper acquisition, intracellular distribution, and systemic elimination. These discoveries not only revealed the canonical roles of CTR1, ATP7A, and ATP7B but also uncovered auxiliary pathways of copper uptake, novel chaperone and organelle-specific distribution mechanisms, and the importance of trafficking adaptors in maintaining copper balance. Beyond its classical enzymatic functions, copper has emerged as a dynamic regulator of cell signaling, autophagy, metabolism, and immune surveillance, with mitochondrial dysfunction and cuproptosis representing key pathogenic outcomes of copper imbalance. The expanding view of copper as both a nutrient and a signaling ion highlights the complexity of its physiological regulation. In this review, we summarize the current knowledge of human copper homeostasis, focusing on how lessons from inherited disorders continue to redefine our understanding of copper physiology and inform therapeutic approaches.

Indexed as

CopperAnimalsHomeostasisHumansCopperATP7A/ATP7Bcopper homeostasisgenetic disordersMenkes diseaseWilson disease

Identifiers

PMID41213165
PMCPMC7618482

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.