Menkes Disease: Another Example of Progress in the Development of Pharmaceuticals for Rare Childhood Diseases, But Much Still Remains to Be Done.

Research Progress on Copper Metabolism, Cuprotosis, and Their Regulatory Mechanism in Tumor Diagnosis and Treatment.

Zycubo (copper histidinate), the first treatment for pediatric Menkes disease.

Copper Homeostasis and Cuproptosis in Neurological Disorders.

Patient Burden in the Treatment of Wilson Disease in the United States: An Analysis of Real-World Health Insurance Claims Data from the Komodo database.

Concerns regarding the safety and efficacy of ES-Cu-Captisol for Menkes disease. Reply.

Concerns regarding the safety and efficacy of ES-Cu-Captisol for Menkes disease.

Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders.

Distinct signaling mechanisms and proteome phenotypes are elicited by compartment-specific genetic defects of copper homeostasis.

NON-REDUNDANT ROLES OF COPPER TRANSPORTERS ATP7A AND ATP7B IN NORADRENERGIC SIGNALING.

Deciphering Copper Homeostasis and Cuproptosis: Biological Mechanisms, Disease Connections, and Cutting-Edge Copper-Based Nanomedicine.

CRISPR prime editing as a promising therapeutic avenue for Menkes disease: the next step in correcting ATP7A mutations.

Role of cuproptosis in digestive system tumors (Review).

Retropseudogene insertion generated through retrotransposition in the ATP7A gene results in premature stop codons and a case of Menkes disease.

Early-onset urinary calculi in Menkes disease: A rare presentation in a 5-month-old infant.

Elesclomol-Mediated Alterations of Liver Metabolism in the Context of Mouse Mblac1 Disruption.

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

Copper homeostasis and cuproptosis: implications for neurodegenerative diseases.

Novel ATP7A Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.

Interference-free SERS tags for copper ion sensing upon hypoxia by in situ hot-spot generation.

Intravenous AAV9-ATP7A plus subcutaneous copper histidinate optimizes outcomes in a lethal Menkes disease mouse model.

Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease.

Alpha-synuclein null mutation exacerbates the phenotype of a model of Menkes disease in female mice.

Atp7a deficiency induces axonal and myelin developmental defects in zebrafish via ferroptosis.

Severe Shock Caused by Rupture of Bladder Diverticulum in a Patient With Menkes Disease: A Case Report.

Overcoming barriers in Menkes disease: A standardized high quality and stable injectable copper histidinate.

Elesclomol rescues mitochondrial copper deficiency in disease models without triggering cuproptosis.

Menkes disease with unilateral lacrimal fistula.

Identification of a Novel ATP7A Variant in a Chinese Boy With Developmental Delay and Epilepsy.

Restoration of Genetic Code in Macular Mouse Fibroblasts via APOBEC1-Mediated RNA Editing.

Copper homeostasis and pregnancy complications: a comprehensive review.

Two Cases of Menkes Disease With Similar Intracranial Arterial Tortuosity on Brain Magnetic Resonance Imaging.

Copper homeostasis and neurodegenerative diseases.

Case Report: A male newborn with occipital horn syndrome.

Copper and Colorectal Cancer.

Novel, likely pathogenic variant in ATP7A associated with Menkes disease diagnosed with ultrarapid genome sequencing.

[Epilepsy and inborn errors of metabolism].

Mammalian copper homeostasis: physiological roles and molecular mechanisms.

Focus on cuproptosis: Exploring new mechanisms and therapeutic application prospects of cuproptosis regulation.

Role of copper in central nervous system physiology and pathology.

Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.

[Research progress on regulatory mechanism of renal copper homeostasis].

Brain and the whole-body bone imaging appearances in Menkes disease: a case report and literature review.

Unraveling Copper Exchange in the Atox1-Cu(I)-Mnk1 Heterodimer: A Simulation Approach.

The physiological and pathophysiological roles of copper in the nervous system.

Synthesis and Biological Activities of Some Metal Complexes of Peptides: A Review.

Mechanism of Cu entry into the brain: many unanswered questions.

Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

Cuproptosis: Unraveling the Mechanisms of Copper-Induced Cell Death and Its Implication in Cancer Therapy.

Disorders of Copper Metabolism in Children-A Problem too Rarely Recognized.

Copper release by MOF-74(Cu): a novel pharmacological alternative to diseases with deficiency of a vital oligoelement.

Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.

Insights Into the Role of Copper in Neurodegenerative Diseases and the Therapeutic Potential of Natural Compounds.

[Analysis of clinical characteristics and ATP7A gene variants in a Chinese pedigree affected with Menkes disease].

Massive thrombosis in internal jugular phlebectasia in Menkes disease.

The Tao of Copper Metabolism: From Physiology to Pathology.

Current and Future of "Turn-On" Based Small-Molecule Copper Probes for Cuproptosis.

LAT1 (SLC7A5) catalyzes copper(histidinate) transport switching from antiport to uniport mechanism.

Copper-transporting ATPases throughout the animal evolution - From clinics to basal neuron-less animals.

An ESIPT solvatochromic fluorescent and colorimetric probe for sensitive and selective detection of copper ions in environmental samples and cell lines.

Genetic etiology of progressive pediatric neurological disorders.

Bioactive copper(II) agents and their potential involvement in the treatment of copper deficiency-related orphan diseases.

The 100 top-cited articles in the field of Wilson's disease from 1990 to 2022: A bibliometric study.

Integrating reduced amino acid composition into PSSM for improving copper ion-binding protein prediction.

[Clinical and genetic analysis of three children with Menkes disease due to variants of ATP7A gene].

Regulatory roles of copper metabolism and cuproptosis in human cancers.

Ethics in pre-ART genetics: a missed X-linked Menkes disease case.

Menkes disease complicated by concurrent ACY1 deficiency: A case report.

Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease.

FDX1-dependent and independent mechanisms of elesclomol-mediated intracellular copper delivery.

Copper homeostasis and the ubiquitin proteasome system.

ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.

Atp7b-dependent choroid plexus dysfunction causes transient copper deficit and metabolic changes in the developing mouse brain.

Evaluation of hair structural abnormalities in children with different neurological diseases.

Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1.

Heterogeneous nuclear ribonucleoprotein hnRNPA2/B1 regulates the abundance of the copper-transporter ATP7A in an isoform-dependent manner.

Mitochondrial copper in human genetic disorders.

Decreased Expression of the Slc31a1 Gene and Cytoplasmic Relocalization of Membrane CTR1 Protein in Renal Epithelial Cells: A Potent Protective Mechanism against Copper Nephrotoxicity in a Mouse Model of Menkes Disease.

Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.

Elesclomol elevates cellular and mitochondrial iron levels by delivering copper to the iron import machinery.

Almost misdiagnosed Menkes disease: A case report.

Oral Elesclomol Treatment Alleviates Copper Deficiency in Animal Models.

Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease.

Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review.

Critical Points in the Methodology of Preparing Copper (II) Histidinate Injections and their Quality Assessment Applying Color Measurement.

Early clinical signs and treatment of Menkes disease.

Abnormal Development of Neural Stem Cell Niche in the Dentate Gyrus of Menkes Disease.

Menkes Disease: Clinical Presentation and Imaging Characteristics.

Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease.

Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children.

Tracking Labile Copper Fluctuation In Vivo/Ex Vivo: Design and Application of a Ratiometric Near-Infrared Fluorophore Derived from 4-Aminostyrene-Conjugated Boron Dipyrromethene.

Seizures of unknown etiology associated with brittle hair: A diagnostic challenge.

Pili Torti: A Feature of Numerous Congenital and Acquired Conditions.

Tubular Dysfunction and Ruptured Ureter in a Child with Menkes Syndrome.

Menkes disease diagnosed by a novel ATP7A frameshift mutation in a patient with infantile spasms-a case report.

Pharmacokinetics of CuGTSM, a Novel Drug Candidate, in a Mouse Model of Menkes Disease.

The molecular and cellular basis of copper dysregulation and its relationship with human pathologies.

Therapeutic Use of Trace Elements in Dermatology.

Copper nutrition and biochemistry and human (patho)physiology.

Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease.

Neuropathological findings in a 17-month-old boy with kinky hair due to Menkes disease.

Genetic causes of fractures and subdural hematomas: fact versus fiction.

Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15.

ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle.

Hair Abnormalities: Key to Suspecting Menkes Disease.

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.

[Pedigree study and analysis of ATP7A gene variants in three children with Menkes disease].

Antioxidant vs. Prooxidant Properties of the Flavonoid, Kaempferol, in the Presence of Cu(II) Ions: A ROS-Scavenging Activity, Fenton Reaction and DNA Damage Study.

COMMD1, a multi-potent intracellular protein involved in copper homeostasis, protein trafficking, inflammation, and cancer.

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

Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit.

Copper Dyshomeostasis in Neurodegenerative Diseases-Therapeutic Implications.

Effect of homeostatic iron regulator protein gene mutation on Wilson's disease clinical manifestation: original data and literature review.

Investigation of Genetic Modifiers of Copper Toxicosis in Labrador Retrievers.

ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.

Repurposing elesclomol, an investigational drug for the treatment of copper metabolism disorders.

ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.

Laparoscopic patch repair of a Morgagni hernia in Menkes disease.

LC-ICP-MS method for the determination of "extractable copper" in serum.

Wilson's Disease: Diagnosis of Wilson's Disease in Ethiopian Young Sisters.

Targeted next generation sequencing for newborn screening of Menkes disease.

[Menkes disease, a diagnosis to consider in case of severe epilepsy with hyperlactacidemia: a case report].

Cancer Pro-oxidant Therapy Through Copper Redox Cycling: Repurposing Disulfiram and Tetrathiomolybdate.

Low function of natural killer cells in treated classic Menkes disease.

Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD).

Zinc Monotherapy as an Alternative Treatment Option for Decompensated Liver Disease due to Wilson Disease?

The molecular mechanisms of copper metabolism and its roles in human diseases.

Visual Dermatology: Menkes Disease.

An Unusual Presentation of Menkes Disease Masquerading as a Leukodystrophy with Macrocephaly.

Rare Genetic Diseases: Nature's Experiments on Human Development.

Elesclomol alleviates Menkes pathology and mortality by escorting Cu to cuproenzymes in mice.

Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects.

Functional analyses of copper transporter genes in the human liver cell line HepG2.

[Genetic analysis of a male infant with Menkes disease].

Reduced Neutrophil Extracellular Trap (NET) Formation During Systemic Inflammation in Mice With Menkes Disease and Wilson Disease: Copper Requirement for NET Release.

Osseous Metaplasia in a Bladder Diverticulum in a Patient with Mosaic Menkes Disease.

Copper and the brain noradrenergic system.

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

Report of a novel ATP7A mutation causing distal motor neuropathy.

Wormian Bones and Dilated Scalp Veins in an Infant With Epilepsy.

Animal Models of Normal and Disturbed Iron and Copper Metabolism.

Adipocyte-specific disruption of ATPase copper transporting α in mice accelerates lipoatrophy.

A severe case of Menkes disease with repeated bone fracture during the neonatal period, followed by multiple arterial occlusion.

Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).

Copper Deficiency: Causes, Manifestations, and Treatment.

Imaging findings of Menkes disease, a radiographic mimic of abusive trauma.

Classification and differential diagnosis of Wilson's disease.

Ratiometric two-photon microscopy reveals attomolar copper buffering in normal and Menkes mutant cells.

Long surviving classical Menkes disease treated with weekly intravenous copper therapy.

Síntesis y uso de histidinato de cobre en niños con enfermedad de Menkes en México.

Fatal Exsanguination Following Rupture of an Iliac Artery Aneurysm in an Infant With Menkes Disease.

ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis.

Biological role of copper as an essential trace element in the human organism.

Urological Problems in Patients with Menkes Disease.

Copper complexes for biomedical applications: Structural insights, antioxidant activity and neuron compatibility.

A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease.

Novel ATP7A gene mutation in a patient with Menkes disease.

Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!

Cu2+ selective chelators relieve copper-induced oxidative stress in vivo.

Predictable and precise template-free CRISPR editing of pathogenic variants.

Chelating principles in Menkes and Wilson diseases: Choosing the right compounds in the right combinations at the right time.

ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal dopamine-β-hydroxylase.

Emergent embolization of a ruptured splenic artery aneurysm complicating Menkes disease.

Disulfiram enhanced delivery of orally administered copper into the central nervous system in Menkes disease mouse model.

Menkes disease: Oral administration of glyoxal-bis(N(4)-methylthiosemicarbazonato)-copper(II) rescues the macular mouse.

Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model.

Growing skull fracture at birth: a rare presentation of Menkes disease.

Neuroimaging findings in Menkes disease: a rare neurodegenerative disorder.

Vacuolization in Myeloid and Erythroid Precursors in a Child with Menkes Disease.

Neuroimaging in Menkes Disease.

Interaction between the AAA ATPase p97/VCP and a concealed UBX domain in the copper transporter ATP7A is associated with motor neuron degeneration.

Multimodal LA-ICP-MS and nanoSIMS imaging enables copper mapping within photoreceptor megamitochondria in a zebrafish model of Menkes disease.

Spontaneous retroperitoneal hemorrhage in Menkes disease: A rare case report.

Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees.

[Recent Trends of Trace Element Studies in Clinical Medicine in Japan].

Disorders of metal metabolism.

Wilson disease and related copper disorders.

The Pivotal Role of Copper in Neurodegeneration: A New Strategy for the Therapy of Neurodegenerative Disorders.

Tuning the Color Palette of Fluorescent Copper Sensors through Systematic Heteroatom Substitution at Rhodol Cores.

Menkes disease: A rare disorder.

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype.

How to use tests for disorders of copper metabolism.

Management of hyperplastic gastric polyp following upper gastrointestinal bleeding in infant with Menkes' disease.

A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.

Evidence for widespread, severe brain copper deficiency in Alzheimer's dementia.

Neuroimaging Changes in Menkes Disease, Part 1.

Neuroimaging Changes in Menkes Disease, Part 2.

Gene expression patterns in the progression of canine copper-associated chronic hepatitis.

13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.

[Analysis of clinical features and genetic mutations in a Chinese family affected with Menkes disease].

Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.

Menkes Disease Mimicking Child Abuse.

Menkes disease and response to copper histidine: An Indian case series.

The role of insufficient copper in lipid synthesis and fatty-liver disease.