Results 1 to 10 of about 6,542 (163)

Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single‐center observational study [PDF]

Pharmacology Research & Perspectives, 2021
Lysosomal acid lipase deficiency (LAL‐D) is an autosomal recessive disease characterized by hypoalphalipoproteinemia, mixed hyperlipemia, and fatty liver (FL) due to mutations in LIPAse A, lysosomal acid type (LIPA) gene.
Andrea Pasta, Paolo Borro, Anna Laura Cremonini, Elena Formisano, Giulia Tozzi, Stefano Cecchi, Raffaele Fresa, Sara Labanca, Afscin Djahandideh, Samir Giuseppe Sukkar, Antonino Picciotto, Livia Pisciotta   +11 more
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A novel variant in the LIPA gene associated with distinct phenotype [PDF]

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   +4 more sources

Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature  [PDF]

Journal of Medical Case Reports, 2023
Background Wolman disease is a rare disease caused by the absence of functional liposomal acid lipase due to mutations in LIPA gene. It presents with organomegaly, malabsorption, and adrenal calcifications.
Kosar Asna Ashari, Aileen Azari-Yam, Mohammad Shahrooei, Vahid Ziaee   +3 more
doaj   +4 more sources

Integrative genetic and expression profiling prioritizes LIPA in mononuclear phagocytes as a candidate regulator of carotid plaque [PDF]

Frontiers in Immunology
BackgroundAtherosclerosis shows vascular bed specificity, yet research has focused on coronary arteries, leaving the causal genetics and immune cell-specific mechanisms of carotid plaque (CP) unexplored.
Zhuyuan Yu, Shuhua Mao, Ying Song, Xiangyuan Meng, Jianing Yu, Ziyu Zong, Tianlin Gao, Hao Chen   +7 more
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Therapeutic efficacy of rscAAVrh74.miniCMV.LIPA gene therapy in a mouse model of lysosomal acid lipase deficiency

Molecular Therapy: Methods & Clinical Development, 2022
Lysosomal acid lipase deficiency (LAL-D) presents as one of two rare autosomal recessive diseases: Wolman disease (WD), a severe disorder presenting in infancy characterized by absent or very low LAL activity, and cholesteryl ester storage disease (CESD),
Patricia Lam, Anna Ashbrook, Deborah A. Zygmunt, Cong Yan, Hong Du, Paul T. Martin   +5 more
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Lovastatin Targets LIPA to Induce ER Stress-Mediated Apoptosis in Acute Myeloid Leukemia: A Multi-Omics Study [PDF]

International Journal of General Medicine
Jie Wei,1,* Guan Ye Nai,2,3,* GuoWu Lin,4,* Yu Mei Huang,1 Wei Jie Zhou,4 Rong rong Liu1 1Departments of Hematology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, People’s Republic of China ...
Wei J, Nai GY, Lin G, Huang YM, Zhou WJ, Liu RR   +5 more
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Case Report: Wolman disease caused by LIPA variants in two Chinese infants and a focused literature synthesis [PDF]

Frontiers in Pediatrics
BackgroundWolman disease is the severe infantile form of lysosomal acid lipase deficiency, caused by biallelic pathogenic variants in the Lysosomal Acid Lipase (LIPA) gene.
Leping Zhang, Qiong Yu, Xinjing Ge, Xinbao Xie   +3 more
doaj   +2 more sources

Identification of key biomarkers for myocardial infarction by multi-omics analysis and machine learning [PDF]

Frontiers in Immunology
BackgroundAcute myocardial infarction (AMI) is one of the leading causes of mortality worldwide. Despite extensive research, only a limited number of genes have been identified as reliable biomarkers for the diagnosis and treatment of AMI.
Jiacheng Wu, Jiacheng Wu, Jiacheng Wu, Yulu Yang, Jianwu Huang, Jianwu Huang, Jianwu Huang, Xuehan Li, Xuehan Li, Xuehan Li, Qian Ma, Qian Ma, Qian Ma, Hao Chen, Hao Chen, Hao Chen, Yalei Wang, Yalei Wang, Yalei Wang, Erha Lama, Erha Lama, Erha Lama, Zhihua Qiu, Zhihua Qiu, Zhihua Qiu, Zihua Zhou, Zihua Zhou, Zihua Zhou   +27 more
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Integration of Genome‐Wide Association Studies With Single‐Cell and Bulk Expression Quantitative Trait Locus to Identify Stroke Susceptibility Genes [PDF]

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Previous studies have integrated genome‐wide association studies with expression quantitative trait locus (eQTL) data from bulk tissues to identify stroke susceptibility genes. However, eQTL data exhibit high cell‐type specificity, and genetic
Yijie He, Tao Zhang, Ping Zhu, Shan Gao, Shiyang Wu, Fengzhen Liu, Yan Chen, Yingshui Yao, Guiyou Liu   +8 more
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EBV infection outcomes determined by monocyte and TREG-driven immune dynamics in an ex vivo pbmc model. [PDF]

PLoS Pathogens
Epstein-Barr virus (EBV) infects >95% of the adult population with diverse outcomes ranging from benign latency to cancers and autoimmune diseases. Immunological control of EBV infection is known to be an important determinant of EBV infection outcomes ...
Leena Yoon, Lauren N MacMullen, Leonardo Josué Castro Muñoz, Alina Gu, Jamie Bregman, Mary S Campion, Avi Srivastava, Rena R Xian, Richard F Ambinder, Andrew Kossenkov, Samantha S Soldan, Paul M Lieberman   +11 more
doaj   +2 more sources