Search Results - "Shammas, Hadeel"
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Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization
Published in Scientific reports (28-03-2019)“…Niemann-Pick Type C (NP-C) is an inherited neurovisceral lysosomal storage disease characterized by a defect in the trafficking of endocytosed cholesterol. In…”
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Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability
Published in International journal of molecular sciences (19-03-2020)“…Niemann-Pick Type C (NPC) is an autosomal recessive lysosomal storage disease leading to progressive neurodegeneration. Mutations in the gene, which accounts…”
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Impact of Dietary Modifications on Plasma Sirtuins 1, 3 and 5 in Older Overweight Individuals Undergoing 12-Weeks of Circuit Training
Published in Nutrients (27-10-2021)“…Sirtuins are nicotinamide adenine dinucleotide (NAD+)-dependent deacetylases that regulate numerous pathways such as mitochondrial energy metabolism in the…”
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Analysis of Sirtuin 1 and Sirtuin 3 at Enzyme and Protein Levels in Human Breast Milk during the Neonatal Period
Published in Metabolites (29-05-2021)“…Breast feeding is regarded as the preferred nutrition modality for children during the first few months of life. It not only furthers growth and development…”
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Effect of Rosa canina Methanol Extract on Membrane Trafficking in Different Niemann‐Pick C1 Phenotypes
Published in The FASEB journal (01-05-2022)“…Niemann Pick type C (NPC) disease is an autosomal recessive lysosomal storage disorder that is caused by mutations in Niemann‐Pick C1 (NPC1) or Niemann‐Pick C2…”
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Niemann‐Pick C1 Pathophysiology Associates with Different Classes of Protein Trafficking Phenotypes Elicited by NPC‐1 Mutations
Published in The FASEB journal (01-04-2019)“…Niemann‐Pick Type C disease (NP‐C) is caused by a defect in the trafficking of endocytosed cholesterol with sequestration of cholesterol in lysosomes and late…”
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Rosa canina L. Methanol Extract and Its Component Rutin Reduce Cholesterol More Efficiently than Miglustat in Niemann–Pick C Fibroblasts
Published in International journal of molecular sciences (01-11-2024)“…Niemann–Pick type C (NPC) disease is an autosomal recessive lysosomal storage disorder where 95% of the cases are caused by mutations in the Niemann–Pick C1…”
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Case study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro
Published in Bioscience reports (30-04-2017)“…It is still not entirely clear how α-galactosidase A (GAA) deficiency translates into clinical symptoms of Fabry disease (FD). The present communication…”
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Lipid raft abnormalities and subsequent protein trafficking effects in Niemann‐Pick type C1 (LB158)
Published in The FASEB journal (01-04-2014)“…Many proteins and lipid components are organized within membrane microdomains, known as lipid rafts (LR). LR are cholesterol‐ and sphingolipid‐rich membranes…”
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The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease
Published in JIMD Reports, Volume 25 (01-01-2016)“…The molecular basis of gastrointestinal intolerances in a severe case of Niemann-Pick type C disease was analyzed in an intestinal biopsy specimen. The enzyme…”
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