Acute hemolysis crisis revealed a Wilson disease

Feugray, Guillaume; Guillerme, Jennifer; Fraissinet, François; Brunel, Valéry; Chagraoui, Abdeslam; Dumant-Forest, Clémentine; Lahary, A.

doi:10.1684/abc.2020.1574

Cited by 1 publication

(2 citation statements)

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“…Other WD complications include cardiovascular problems associated with portal hypertension, including arrhythmia, leukopenia, and thrombocytopenia 313,314 . Osteoarthritis, hemolytic anemia, hypophosphatemia, and renal dysfunction can also manifest due to abnormal Cu deposition 314‐317 …”

Section: Cu‐dependent Disease Elicited By Atp7b Mutations: Wilson Dis...mentioning

confidence: 99%

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

et al. 2021

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Copper (Cu) is an essential micronutrient required for the activity of redox-active enzymes involved in critical metabolic reactions, signaling pathways, and biological functions. Transporters and chaperones control Cu ion levels and bioavailability to ensure proper subcellular and systemic Cu distribution. Intensive research has focused on understanding how mammalian cells maintain Cu homeostasis, and how molecular signals coordinate Cu acquisition and storage within organs. In humans, mutations of genes that regulate Cu homeostasis or facilitate interactions with Cu ions lead to numerous pathologic conditions. Malfunctions of the Cu + -transporting ATPases ATP7A and ATP7B cause Menkes disease and Wilson disease, respectively. Additionally, defects in the mitochondrial and cellular distributions and homeostasis of Cu lead to severe neurodegenerative conditions, mitochondrial myopathies, and metabolic diseases. Cu has a dual nature in K E Y W O R D S cancer, copper, copper-dependent diseases, cuproproteins, Menkes disease, mitochondrial myopathies, Wilson disease

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Section: Cu‐dependent Disease Elicited By Atp7b Mutations: Wilson Dis...mentioning

confidence: 99%

“…313,314 Osteoarthritis, hemolytic anemia, hypophosphatemia, and renal dysfunction can also manifest due to abnormal Cu deposition. [314][315][316][317]…”

Section: Elicited By Atp7b Mutations: Wilson Diseasementioning

confidence: 99%