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Molecular pathways of nonalcoholic fatty liver disease development and progression
F Bessone, MV Razori, MG Roma - Cellular and Molecular Life Sciences, 2019 - Springer
Nonalcoholic fatty liver disease (NAFLD) is a main hepatic manifestation of metabolic
syndrome. It represents a wide spectrum of histopathological abnormalities ranging from …
syndrome. It represents a wide spectrum of histopathological abnormalities ranging from …
Cholesterol handling in lysosomes and beyond
Lysosomes are of major importance for the regulation of cellular cholesterol homeostasis.
Food-derived cholesterol and cholesterol esters contained within lipoproteins are delivered …
Food-derived cholesterol and cholesterol esters contained within lipoproteins are delivered …
[HTML][HTML] Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease
DL Bernstein, H Hülkova, MG Bialer, RJ Desnick - Journal of hepatology, 2013 - Elsevier
Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL)
activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the …
activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the …
Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency
M Pericleous, C Kelly, T Wang… - The lancet …, 2017 - thelancet.com
Lysosomal acid lipase deficiency is a rare, autosomal recessive condition caused by
mutations in the gene encoding lysosomal acid lipase (LIPA) that result in reduced or absent …
mutations in the gene encoding lysosomal acid lipase (LIPA) that result in reduced or absent …
Genetic factors that affect nonalcoholic fatty liver disease: A systematic clinical review
TJ Severson, S Besur… - World journal of …, 2016 - pmc.ncbi.nlm.nih.gov
AIM: To investigate roles of genetic polymorphisms in non-alcoholic fatty liver disease
(NAFLD) onset, severity, and outcome through systematic literature review. METHODS: The …
(NAFLD) onset, severity, and outcome through systematic literature review. METHODS: The …
[PDF][PDF] Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups
SA Scott, B Liu, I Nazarenko, S Martis, J Kozlitina… - …, 2013 - Wiley Online Library
Cholesteryl ester storage disease (CESD) and Wolman disease are autosomal recessive
later‐onset and severe infantile disorders, respectively, which result from the deficient …
later‐onset and severe infantile disorders, respectively, which result from the deficient …
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis
The interpretation of genomic variants has become one of the paramount challenges in the
post-genome sequencing era. In this review we summarize nearly 20 years of research on …
post-genome sequencing era. In this review we summarize nearly 20 years of research on …
The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD
Background & Aims Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive
condition that may present in a mild form (cholesteryl ester storage disease [CESD]), which …
condition that may present in a mild form (cholesteryl ester storage disease [CESD]), which …
Platycodin D inhibits autophagy and increases glioblastoma cell death via LDLR upregulation
Targeting autophagy is a promising therapeutic approach in cancer therapy. Here, we
screened 30 traditional herbal medicines to identify novel autophagy regulators and found …
screened 30 traditional herbal medicines to identify novel autophagy regulators and found …
[HTML][HTML] Non-alcoholic fatty liver disease development: A multifactorial pathogenic phenomena
Non-alcoholic fatty liver disease (NAFLD), characterized by the accumulation of excessive
intrahepatic fat, is a leading metabolic disorder also considered as the hepatic manifestation …
intrahepatic fat, is a leading metabolic disorder also considered as the hepatic manifestation …