Downregulation of myelination, energy, and translational genes in Menkes disease brain

Liu, Po-Ching; Chen, Yiwen; Centeno, José A.; Quezado, Martha; Lem, Kristen; Kaler, Stephen G.

doi:10.1016/j.ymgme.2005.04.007

Cited by 52 publications

(53 citation statements)

References 37 publications

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“…9,28 On the basis of the correlations between molecular findings and clinical success presented here, we suggest that the response to early copper treatment depends on the ATP7A genotype and that optimal outcomes occur only in patients with mutations that permit some residual copper transport. The normal neurodevelopmental outcomes in Patients 5 and 8 may reflect the combined effect of the correction of serum copper levels (Table 2) and the capacity for residual copper-transport activity associated with IVS9,DS,+6T→G and G666R, respectively.…”

Section: Discussionmentioning

confidence: 74%

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Neonatal Diagnosis and Treatment of Menkes Disease

Kaler¹,

Holmes²,

Goldstein³

et al. 2008

N Engl J Med

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284

291

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Section: Discussionmentioning

confidence: 74%

“…28 We used immunohistochemical analysis and confocal microscopy to evaluate ATP7A expression in cultured fibroblasts from Patient 2, who had an exon 1 deletion, and found no detectable signal (Fig. 3C).…”

Section: Characterization Of Mutationsmentioning

confidence: 99%

Neonatal Diagnosis and Treatment of Menkes Disease

Kaler¹,

Holmes²,

Goldstein³

et al. 2008

N Engl J Med

Self Cite

284

291

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“…Neuronal demyelination is also observed in MD patients due to ATP7A inactivation. 19 Mediation of ATP7A-related Figure 4 Schematic illustration of cellular copper transport. Copper is taken up across the plasma membrane by the copper uptake transporter (CTR1) as cuprous ions (CuI).…”

Section: Cellular Copper Metabolismmentioning

confidence: 99%

Menkes disease

Tümer

Møller²

2009

Eur J Hum Genet

333

276

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“…This also supports the role of ATP7A in brain Cu uptake. Neuronal demyelination is also observed in MD patients due to ATP7A inactivation [61].…”

Section:  Copper Homeostasis In MDmentioning

confidence: 99%

“…Late manifestations of the disease are blindness, subdural hematoma, and respiratory failure. Most patients die early due to infection, vascular complications (such as sudden and massive cerebral hemorrhage due to vascular rupture), or from the neurological degeneration it self [61].…”

Section:  Copper Homeostasis In MDmentioning

confidence: 99%

Study of Serum Copper and Iron in Children with Chronic Liver Diseases

Ibrahim¹

2013

Anat Physiol

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Trace elements have a major role as both oxidants and antioxidants, promoting and protecting from tissue damage respectively. As the liver has a pivotal role in trace elements metabolism and consequenyly their bioavailability, we aimed to measure serum levels of essential trace elements in children with chronic liver diseases (CLDs) regardless the etiology and to study their correlation with liver function tests. Serum zinc (Zn), copper (Cu) and iron (Fe); together with other trace elements parameters; were measured in 50 children with CLDs using spectrophotometry and their levels were compared with those age and sex matched healthy children as controls. Serum Cu, Fe, ferritin and transferrin saturation (TS) were significantly higher in the CLDs group than that in the control group; while serum Zn and total iron binding capacity (TIBC) were significantly lower in the CLDs than that in the control group. Serum Fe, Cu, TS and ferritin were positively correlated with biochemical parameters of liver damage; while serum Zn and TIBC were negatively correlated with biochemical parameters of liver damage. These results encourage inclusion of serum Zn, Cu and Fe as biomarkers for monitoring the severity of liver damage during routine assessment of children with CLDs. We recommended caution to avoid excess Fe and Cu intake in children with CLDs. Moreover, Zn supplementation could be encouraged in children with CLDs regardless its etiology.

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Downregulation of myelination, energy, and translational genes in Menkes disease brain

Cited by 52 publications

References 37 publications

Neonatal Diagnosis and Treatment of Menkes Disease

Neonatal Diagnosis and Treatment of Menkes Disease

Menkes disease

Study of Serum Copper and Iron in Children with Chronic Liver Diseases

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