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 …

Cholesterol handling in lysosomes and beyond

Y Meng, S Heybrock, D Neculai, P Saftig - Trends in cell biology, 2020 - cell.com
Lysosomes are of major importance for the regulation of cellular cholesterol homeostasis.
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 …

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 …

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 …

[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 …

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis

N Caminsky, EJ Mucaki, PK Rogan - F1000Research, 2014 - pmc.ncbi.nlm.nih.gov
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 …

The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD

A Carter, SM Brackley, J Gao, JP Mann - Journal of hepatology, 2019 - Elsevier
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 …

Platycodin D inhibits autophagy and increases glioblastoma cell death via LDLR upregulation

SJ Lee, YJ Choi, HI Kim, HE Moon, SH Paek… - Molecular …, 2022 - Wiley Online Library
Targeting autophagy is a promising therapeutic approach in cancer therapy. Here, we
screened 30 traditional herbal medicines to identify novel autophagy regulators and found …

[HTML][HTML] Non-alcoholic fatty liver disease development: A multifactorial pathogenic phenomena

A Bashir, A Duseja, A De, M Mehta, P Tiwari - Liver Research, 2022 - Elsevier
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 …