Results 1 to 10 of about 6,168 (166)

Crystal structure of human lysosomal acid lipase and its implications in cholesteryl ester storage disease. [PDF]

J Lipid Res, 2020
Lysosomal acid lipase (LAL) is a serine hydrolase that hydrolyzes cholesteryl ester (CE) and TGs delivered to the lysosomes into free cholesterol and fatty acids.
Rajamohan F, Reyes AR, Tu M, Nedoma NL, Hoth LR, Schwaid AG, Kurumbail RG, Ward J, Han S.   +8 more
europepmc   +2 more sources

Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group. [PDF]

Orphanet J Rare Dis
Background Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive ultrarare lysosomal storage disease caused by pathogenic/likely pathogenic variants in the LIPA gene. The age of onset and progression rate can significantly vary, possibly due
AlSayed M, Al Rasadi K, AlDhaheri NS, Al-Hussaini A, Awaji A, Al Tenaiji A, Bzeizi KI, Miqdady M, Al Hashmi N, Alfadhel M.   +9 more
europepmc   +2 more sources

Lysosomal acid lipase deficiency in a 6-year-old child: case report

Archives of the Balkan Medical Union, 2020
Introduction. Cholesteryl ester storage disease or lysosomal acid lipase deficiency is a rare severe congenital enzyme pathology of lysosomal storage disorders.
Oleksandra SHULHAI, Anna KABAKOVA, Anna-Mariia SHULHAI   +2 more
doaj   +1 more source

Drosophila Lipase 3 Mediates the Metabolic Response to Starvation and Aging

Frontiers in Aging, 2022
The human LIPA gene encodes for the enzyme lysosomal acid lipase, which hydrolyzes cholesteryl ester and triacylglycerol. Lysosomal acid lipase deficiency results in Wolman disease and cholesteryl ester storage disease.
Lea Hänschke, Christoph Heier, Christoph Heier, Christoph Heier, Santiago José Maya Palacios, Huseyin Erdem Özek, Christoph Thiele, Reinhard Bauer, Ronald P. Kühnlein, Ronald P. Kühnlein, Ronald P. Kühnlein, Margret H. Bülow   +11 more
doaj   +1 more source

Fatty liver in a child: Looking beyond nonalcoholic fatty liver disease

Indian Pediatrics Case Reports, 2021
Background: Cholesteryl ester storage disease (CESD) is a rare genetic condition caused due to deficiency of the enzyme lysosomal acid lipase (LAL). The condition is characterized by poor growth, dyslipidemia, and fatty liver.
Jaya Agarwal, Ajmal Hasan, Mayank Mehrotra, Rashmi Kapoor   +3 more
doaj   +1 more source

Prostate cancer cell proliferation is influenced by LDL-cholesterol availability and cholesteryl ester turnover

Cancer & Metabolism, 2022
Background Prostate cancer growth is driven by androgen receptor signaling, and advanced disease is initially treatable by depleting circulating androgens.
Nikki L. Raftopulos, Tinashe C. Washaya, Andreas Niederprüm, Antonia Egert, Mariam F. Hakeem-Sanni, Bianca Varney, Atqiya Aishah, Mariya L. Georgieva, Ellinor Olsson, Diandra Z. dos Santos, Zeyad D. Nassar, Blake J. Cochran, Shilpa R. Nagarajan, Meghna S. Kakani, Jordan F. Hastings, David R. Croucher, Kerry-Anne Rye, Lisa M. Butler, Thomas Grewal, Andrew J. Hoy   +19 more
doaj   +1 more source

Lysosomal acid lipase deficiency in pediatric patients: a scoping review

Jornal de Pediatria, 2022
Objective: Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. Early diagnosis is crucial for effective therapy and long-term survival.
Camila da Rosa Witeck, Anne Calbusch Schmitz, Júlia Meller Dias de Oliveira, André Luís Porporatti, Graziela De Luca Canto, Maria Marlene de Souza Pires   +5 more
doaj   +1 more source

A novel variant in the LIPA gene associated with distinct phenotype

Balkan Journal of Medical Genetics, 2023
Deficiency of lysosomal acid lipase (LAL-D) is caused by biallelic pathogenic variants in the LIPA gene. Spectrum of LAL-D ranges from early onset of hepatosplenomegaly and psychomotor regression (Wolman disease) to a more chronic course (cholesteryl ...
Sarajlija A., Armengol L., Maver A., Kitic I., Prokic D., Cehic M., Djuricic M.S., Peterlin B.   +7 more
doaj   +1 more source

Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease

Frontiers in Genetics, 2022
Lysosomal acid lipase (LAL), encoded by the gene LIPA, is the sole neutral lipid hydrolase in lysosomes, responsible for cleavage of cholesteryl esters and triglycerides into their component parts.
Katrina J. Besler, Valentin Blanchard, Gordon A. Francis   +2 more
doaj   +1 more source

Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease

Journal of Lipid Research, 1999
Human lysosomal acid lipase/cholesteryl ester hydrolase (hLAL) is essential for the intralysosomal metabolism of cholesteryl esters and triglycerides taken up by receptor-mediated endocytosis of lipoprotein particles.
Peter Lohse, Sylke Maas, Pia Lohse, Adrian C. Sewell, Otto P. van Diggelen, Dietrich Seidel   +5 more
doaj   +1 more source