Molecular Genetics and Metabolism
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- Sciencedirect from 1998, Ingenta, Rcgp, CSA, Proquest, and Gale
The effect of neonatal gene therapy with a gamma retroviral vector on cardiac valve disease in mucopolysaccharidosis VII dogs after a decade...
We conclude that neonatal RV-mediated gene therapy reduced cardiac valve disease in MPS VII dogs for up to 11 years, and propose that neonatal initiation of ERT should have a similar effect. © 2013....
Oxidative stress and Nrf2 signaling in McArdle disease.
We show that MD patients have elevated muscle protein carbonyls and 4-hydroxynonenal (4-HNE) in comparison with healthy, age and activity matched controls (P < 0.05). Nuclear abundance of Nrf2 and Nrf2-antioxidant response element (ARE) binding was also higher in MD patients compared with controls (...
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
The objective of the study was the characterization of ABCA1 gene mutations in 10 patients with extremely low HDL-cholesterol. Five patients (aged 6months to 76years) presented with splenomegaly and thrombocytopenia suggesting the diagnosis of Tangier disease (TD). Three of them were...
A shortcut to the lysosome: The mannose-6-phosphate-independent pathway.
We review the current knowledge on these two proteins: their discovery, study, structural features and cellular function, with special attention to their role as alternative receptors to lysosomal trafficking. Recent studies associating both LIMP2 and sortilin to disease are also extensively reviewe...
Left ventricular aneurysm in an adult patient with mucopolysaccharidosis type I: comment on pathogenesis of a novel complication.
We present an attenuated MPS I patient with a primary apical left ventricular aneurysm not associated with ischemia. We speculate that the defect in GAG catabolism leads not only to the storage of GAGs but also to alterations of the myocardial extracellular matrix. The latter ultimately being respon...
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.
We report and review the genotypes and phenotypes of 14 Thai patients with isolated MMA. Between 1997 and 2011, we identified 6 mut patients, 2 cblA patients, and 6 cblB patients. The mut and cblB patients had relatively severe phenotypes compared to relatively mild phenotypes of the cblA patients....
The O-GlcNAcase theory of diabetes: commentary on a candidate gene for diabetes
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
Although the retina is thought to primarily rely on glucose for fuel, inherited deficiency of one or more activities of mitochondrial trifunctional protein results in a pigmentary retinopathy leading to vision loss. Many other enzymatic deficiencies in fatty acid oxidation pathways have been describ...
Longitudinal Study of Cognition in Patients with Niemann-Pick Disease, Type C
Challenges in Cognitive Assessment of Children with MPS IIIA