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For: Bernstein DL, Hülkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol 2013;58:1230-43. [PMID: 23485521 DOI: 10.1016/j.jhep.2013.02.014] [Citation(s) in RCA: 250] [Impact Index Per Article: 20.8] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/21/2012] [Revised: 02/12/2013] [Accepted: 02/18/2013] [Indexed: 12/11/2022]
Number Cited by Other Article(s)
1
Vasista P, Tolufase T, Firi P, Mistry M. Incidental finding of adrenal calcifications leading to the diagnosis of lysosomal acid lipasedeficiency (Wolman disease) in a neonate. BMJ Case Rep 2025;18:e265278. [PMID: 40345678 DOI: 10.1136/bcr-2025-265278] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 05/11/2025]  Open
2
Laurent M, Harb R, Jenny C, Oustelandt J, Jimenez S, Cosette J, Landini F, Ferrante A, Corre G, Vujic N, Piccoli C, Brassier A, Van Wittenberghe L, Ronzitti G, Kratky D, Pacelli C, Amendola M. Rescue of lysosomal acid lipase deficiency in mice by rAAV8 liver gene transfer. COMMUNICATIONS MEDICINE 2025;5:110. [PMID: 40216942 PMCID: PMC11992068 DOI: 10.1038/s43856-025-00816-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/06/2024] [Accepted: 03/20/2025] [Indexed: 04/14/2025]  Open
3
Kumar GVN, Wang RS, Sharma AX, David NL, Amorim T, Sinden DS, Doshi NK, Wabitsch M, Gingras S, Ejaz A, Rubin JP, Maron BA, Fazeli PK, Steinhauser ML. Non-canonical lysosomal lipolysis drives mobilization of adipose tissue energy stores with fasting. Nat Commun 2025;16:1330. [PMID: 39900947 PMCID: PMC11790841 DOI: 10.1038/s41467-025-56613-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/08/2024] [Accepted: 01/21/2025] [Indexed: 02/05/2025]  Open
4
Lancho Muñoz A, Iglesias Conejero P, López Garrido MÁ, Becerra Massare P, Redondo Cerezo E. The role of lysosomal acid lipase deficiency in dyslipidemia and liver disorders. REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS 2025. [PMID: 39831616 DOI: 10.17235/reed.2025.11007/2024] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/22/2025]
5
Bradić I, Kuentzel KB, Pirchheim A, Rainer S, Schwarz B, Trauner M, Larsen MR, Vujić N, Kratky D. From LAL-D to MASLD: Insights into the role of LAL and Kupffer cells in liver inflammation and lipid metabolism. Biochim Biophys Acta Mol Cell Biol Lipids 2025;1870:159575. [PMID: 39486573 DOI: 10.1016/j.bbalip.2024.159575] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/30/2024] [Revised: 10/29/2024] [Accepted: 10/29/2024] [Indexed: 11/04/2024]
6
Atava I, Briviba M, Nesterovics G, Saripo V, Gilis D, Meiere R, Terauda E, Skudrina G, Klovins J, Latkovskis G. Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing. Int J Mol Sci 2024;25:13466. [PMID: 39769230 PMCID: PMC11677843 DOI: 10.3390/ijms252413466] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/25/2024] [Revised: 12/12/2024] [Accepted: 12/14/2024] [Indexed: 01/11/2025]  Open
7
de las Heras J, Almohalla C, Blasco-Alonso J, Bourbon M, Couce ML, de Castro López MJ, García Jiménez MC, Gil Ortega D, González-Diéguez L, Meavilla S, Moreno-Álvarez A, Pastor-Rosado J, Sánchez-Pintos P, Serrano-Gonzalo I, López E, Valdivielso P, Yahyaoui R, Quintero J. Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease. Nutrients 2024;16:4309. [PMID: 39770929 PMCID: PMC11678757 DOI: 10.3390/nu16244309] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/16/2024] [Revised: 12/03/2024] [Accepted: 12/07/2024] [Indexed: 01/11/2025]  Open
8
Nedelcu C, Dijmarescu I, Patrascoiu M, Oprescu I, Pacurar D. Lysosomal Acid Lipase Deficiency: A Report of Two Cases and a Review of the Literature. Cureus 2024;16:e73299. [PMID: 39650963 PMCID: PMC11625490 DOI: 10.7759/cureus.73299] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 11/07/2024] [Indexed: 12/11/2024]  Open
9
Bastos KLDM, Stephan BDO, Linnenkamp BDW, Costa LA, Lima FR, Carvalho LML, Honjo RS, Tannuri U, Tannuri ACA, Kim CA. Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency. Int J Mol Sci 2024;25:8648. [PMID: 39201333 PMCID: PMC11354363 DOI: 10.3390/ijms25168648] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/04/2024] [Revised: 08/04/2024] [Accepted: 08/07/2024] [Indexed: 09/02/2024]  Open
10
Javed M, Goswami DK, Raj H, Lohana K, Goswami B, Karim A, Warayo A, Farooqi P, Alamy H, Ullah ZO, Mohammad A, Farooqi SA, Ali H, Shuja D, Malik J, Baloch ZQ. Cardiac Manifestations in Inherited Metabolic Diseases. Cardiol Rev 2024:00045415-990000000-00299. [PMID: 38980048 DOI: 10.1097/crd.0000000000000753] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 07/10/2024]
11
Hernández‐Orozco A, Melendez‐Aranda L, Mendoza‐Ruvalcaba S, Perea‐Díaz F, Cebolla JJ, Giraldo P, Brambila‐Tapia A, García‐Ortíz J. Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico. J Clin Lab Anal 2024;38:e25083. [PMID: 39105399 PMCID: PMC11317768 DOI: 10.1002/jcla.25083] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/10/2024] [Revised: 05/06/2024] [Accepted: 06/05/2024] [Indexed: 08/07/2024]  Open
12
Koenig AB, Tan A, Abdelaal H, Monge F, Younossi ZM, Goodman ZD. Review article: Hepatic steatosis and its associations with acute and chronic liver diseases. Aliment Pharmacol Ther 2024;60:167-200. [PMID: 38845486 DOI: 10.1111/apt.18059] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/04/2024] [Revised: 04/23/2024] [Accepted: 05/13/2024] [Indexed: 06/28/2024]
13
Cuenca-Gómez JÁ, Lara-Rojas CM, Bonilla-López A. Cardiac manifestations in inherited metabolic diseases. Curr Probl Cardiol 2024;49:102587. [PMID: 38653442 DOI: 10.1016/j.cpcardiol.2024.102587] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/16/2024] [Accepted: 04/20/2024] [Indexed: 04/25/2024]
14
Lipiński P, Tylki-Szymańska A. The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment. Diagnostics (Basel) 2024;14:1299. [PMID: 38928715 PMCID: PMC11202662 DOI: 10.3390/diagnostics14121299] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/04/2024] [Revised: 06/11/2024] [Accepted: 06/18/2024] [Indexed: 06/28/2024]  Open
15
Zhang JH, Lin AP, Zhang L, Ruan DD, Gao MZ, Chen Q, Yu HP, Liao LS, Lin XF, Fang ZT, Lin F, Lu SY, Luo JW, Zheng XL, Chen MS. Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier. Dig Dis Sci 2024;69:2109-2122. [PMID: 38564148 DOI: 10.1007/s10620-024-08395-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/18/2023] [Accepted: 03/17/2024] [Indexed: 04/04/2024]
16
Brown EE, Byrne K, Michos ED, Leucker TM, Marvel F, Jones SR, Martin SS, Arvanitis M. Expanded genetic testing in familial hypercholesterolemia-A single center's experience. Am J Prev Cardiol 2024;18:100683. [PMID: 38828125 PMCID: PMC11139767 DOI: 10.1016/j.ajpc.2024.100683] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/13/2023] [Revised: 05/03/2024] [Accepted: 05/11/2024] [Indexed: 06/05/2024]  Open
17
Pai G, Achutha D. Hepatomegaly and hyperlipidemia in a toddler. Indian J Gastroenterol 2024:10.1007/s12664-024-01609-y. [PMID: 38780879 DOI: 10.1007/s12664-024-01609-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 05/25/2024]
18
Barnabas A, Miquel R. A different picture on liver biopsy. J Hepatol 2024;80:e189-e191. [PMID: 38637104 DOI: 10.1016/j.jhep.2024.01.038] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/12/2023] [Revised: 01/28/2024] [Accepted: 01/29/2024] [Indexed: 04/20/2024]
19
Nakamura M. Lipotoxicity as a therapeutic target in obesity and diabetic cardiomyopathy. JOURNAL OF PHARMACY & PHARMACEUTICAL SCIENCES : A PUBLICATION OF THE CANADIAN SOCIETY FOR PHARMACEUTICAL SCIENCES, SOCIETE CANADIENNE DES SCIENCES PHARMACEUTIQUES 2024;27:12568. [PMID: 38706718 PMCID: PMC11066298 DOI: 10.3389/jpps.2024.12568] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 12/14/2023] [Accepted: 04/09/2024] [Indexed: 05/07/2024]
20
Wang Z, Wang Z, Lin M, Zheng B, Zhang J. A study on cholesterol-cholesteryl ester metabolic homeostasis and drug intervention in hyperlipidemic hamsters using UHPLC-MS/MS. J Pharm Biomed Anal 2024;240:115933. [PMID: 38154368 DOI: 10.1016/j.jpba.2023.115933] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/22/2023] [Revised: 12/20/2023] [Accepted: 12/21/2023] [Indexed: 12/30/2023]
21
Kızıltunç E, Gökalp S, Biberoğlu G, Yalçın Y, Cihan B, Öktem RM, İnci A, Tümer L, Yalçın MR, Abacı A. Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease? Herz 2024;49:75-80. [PMID: 37528297 DOI: 10.1007/s00059-023-05200-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/31/2022] [Revised: 06/18/2023] [Accepted: 06/19/2023] [Indexed: 08/03/2023]
22
Tidwell J, Wu GY. Unique Genetic Features of Lean NAFLD: A Review of Mechanisms and Clinical Implications. J Clin Transl Hepatol 2024;12:70-78. [PMID: 38250459 PMCID: PMC10794266 DOI: 10.14218/jcth.2023.00252] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/25/2023] [Revised: 07/11/2023] [Accepted: 08/04/2023] [Indexed: 01/23/2024]  Open
23
Akhmetshina A, Bianco V, Bradić I, Korbelius M, Pirchheim A, Kuentzel KB, Eichmann TO, Hinteregger H, Kolb D, Habisch H, Liesinger L, Madl T, Sattler W, Radović B, Sedej S, Birner-Gruenberger R, Vujić N, Kratky D. Loss of lysosomal acid lipase results in mitochondrial dysfunction and fiber switch in skeletal muscles of mice. Mol Metab 2024;79:101869. [PMID: 38160938 PMCID: PMC7615526 DOI: 10.1016/j.molmet.2023.101869] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/29/2023] [Revised: 12/18/2023] [Accepted: 12/28/2023] [Indexed: 01/03/2024]  Open
24
Quaglia A, Roberts EA, Torbenson M. Developmental and Inherited Liver Disease. MACSWEEN'S PATHOLOGY OF THE LIVER 2024:122-294. [DOI: 10.1016/b978-0-7020-8228-3.00003-x] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/02/2025]
25
Westerterp M, Li F, Zhang H. Dissecting cell type-specific impact in lysosomal acid lipase deficiency-associated disorders. J Lipid Res 2023;64:100474. [PMID: 37972729 PMCID: PMC10750170 DOI: 10.1016/j.jlr.2023.100474] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/30/2023] [Revised: 10/09/2023] [Accepted: 10/15/2023] [Indexed: 11/19/2023]  Open
26
Candolo ACR, Cançado GGL, Zitelli PM, Mazo DFDC, Oliveira CPM, Cunha-Silva M, Greca RD, Araújo RC, Alustau ASPT, Couto CA, Nardelli MJ, de Lima RGR, Farias AQ, Carrilho FJ, Pessôa MG. Lysosomal Acid Lipase Deficiency in the Etiological Investigation of Cryptogenic Liver Disease in Adults: A Multicenter Brazilian Study. GASTROENTEROLOGY INSIGHTS 2023;14:564-574. [DOI: 10.3390/gastroent14040040] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/11/2025]  Open
27
Nasr P, Jönsson C, Ekstedt M, Kechagias S. Non-metabolic causes of steatotic liver disease. METABOLISM AND TARGET ORGAN DAMAGE 2023;3. [DOI: 10.20517/mtod.2023.20] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/03/2025]
28
Bradić I, Liesinger L, Kuentzel KB, Vujić N, Trauner M, Birner-Gruenberger R, Kratky D. Metabolic changes and propensity for inflammation, fibrosis, and cancer in livers of mice lacking lysosomal acid lipase. J Lipid Res 2023;64:100427. [PMID: 37595802 PMCID: PMC10482749 DOI: 10.1016/j.jlr.2023.100427] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/07/2023] [Revised: 07/20/2023] [Accepted: 08/10/2023] [Indexed: 08/20/2023]  Open
29
Iyer DR, Venkatraman J, Tanguy E, Vitale N, Mahapatra NR. Chromogranin A and its derived peptides: potential regulators of cholesterol homeostasis. Cell Mol Life Sci 2023;80:271. [PMID: 37642733 PMCID: PMC11072126 DOI: 10.1007/s00018-023-04908-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/03/2023] [Revised: 08/02/2023] [Accepted: 08/03/2023] [Indexed: 08/31/2023]
30
Elaraby NM, Galal ER, Abdel-Hamid M, Elbendary HM, Elbadry M, Mekkawy MK, Ashaat NA, Mounir SM, Ashaat EA. First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease. J Mol Neurosci 2023;73:598-607. [PMID: 37470904 PMCID: PMC10517033 DOI: 10.1007/s12031-023-02139-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/16/2023] [Accepted: 06/23/2023] [Indexed: 07/21/2023]
31
Lan ZQ, Ge ZY, Lv SK, Zhao B, Li CX. The regulatory role of lipophagy in central nervous system diseases. Cell Death Discov 2023;9:229. [PMID: 37414782 DOI: 10.1038/s41420-023-01504-z] [Citation(s) in RCA: 5] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/23/2023] [Revised: 06/04/2023] [Accepted: 06/19/2023] [Indexed: 07/08/2023]  Open
32
Bianco V, Korbelius M, Vujic N, Akhmetshina A, Amor M, Kolb D, Pirchheim A, Bradic I, Kuentzel KB, Buerger M, Schauer S, Phan HTT, Bulfon D, Hoefler G, Zimmermann R, Kratky D. Impact of (intestinal) LAL deficiency on lipid metabolism and macrophage infiltration. Mol Metab 2023;73:101737. [PMID: 37182562 PMCID: PMC10209539 DOI: 10.1016/j.molmet.2023.101737] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/23/2022] [Revised: 03/01/2023] [Accepted: 05/08/2023] [Indexed: 05/16/2023]  Open
33
Musso G, Saba F, Cassader M, Gambino R. Lipidomics in pathogenesis, progression and treatment of nonalcoholic steatohepatitis (NASH): Recent advances. Prog Lipid Res 2023;91:101238. [PMID: 37244504 DOI: 10.1016/j.plipres.2023.101238] [Citation(s) in RCA: 20] [Impact Index Per Article: 10.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/02/2023] [Revised: 05/20/2023] [Accepted: 05/21/2023] [Indexed: 05/29/2023]
34
Sohal A, Chaudhry H, Kowdley KV. Genetic Markers Predisposing to Nonalcoholic Steatohepatitis. Clin Liver Dis 2023;27:333-352. [PMID: 37024211 DOI: 10.1016/j.cld.2023.01.006] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 04/08/2023]
35
Korbelius M, Kuentzel KB, Bradić I, Vujić N, Kratky D. Recent insights into lysosomal acid lipase deficiency. Trends Mol Med 2023;29:425-438. [PMID: 37028992 DOI: 10.1016/j.molmed.2023.03.001] [Citation(s) in RCA: 22] [Impact Index Per Article: 11.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/15/2022] [Revised: 03/14/2023] [Accepted: 03/14/2023] [Indexed: 04/09/2023]
36
Suarez-Zamora DA, Rojas-Rojas MM, Ordoñez-Guerrero F, Mugnier-Quijano J, Lopez-Panqueva R. Pediatric patients with lysosomal acid lipase deficiency. REVISTA ESPANOLA DE PATOLOGIA : PUBLICACION OFICIAL DE LA SOCIEDAD ESPANOLA DE ANATOMIA PATOLOGICA Y DE LA SOCIEDAD ESPANOLA DE CITOLOGIA 2023;56:113-118. [PMID: 37061237 DOI: 10.1016/j.patol.2021.03.005] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 11/23/2020] [Revised: 02/26/2021] [Accepted: 03/21/2021] [Indexed: 04/17/2023]
37
Zhao X, Amevor FK, Cui Z, Wan Y, Xue X, Peng C, Li Y. Steatosis in metabolic diseases: A focus on lipolysis and lipophagy. Biomed Pharmacother 2023;160:114311. [PMID: 36764133 DOI: 10.1016/j.biopha.2023.114311] [Citation(s) in RCA: 5] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/06/2022] [Revised: 01/23/2023] [Accepted: 01/26/2023] [Indexed: 02/11/2023]  Open
38
Pandey MK. Exploring Pro-Inflammatory Immunological Mediators: Unraveling the Mechanisms of Neuroinflammation in Lysosomal Storage Diseases. Biomedicines 2023;11:biomedicines11041067. [PMID: 37189685 DOI: 10.3390/biomedicines11041067] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/28/2023] [Revised: 03/17/2023] [Accepted: 03/22/2023] [Indexed: 04/05/2023]  Open
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Tebieva IS, Bazrova FV, Gabisova YV, Turieva SV, Zinchenko RA. Current approaches to the diagnosis and treatment of lysosomal acid lipase deficiency. ROSSIYSKIY VESTNIK PERINATOLOGII I PEDIATRII (RUSSIAN BULLETIN OF PERINATOLOGY AND PEDIATRICS) 2023. [DOI: 10.21508/1027-4065-2023-68-1-105-109] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 03/06/2023]
40
Gainullina A, Mogilenko DA, Huang LH, Todorov H, Narang V, Kim KW, Yng LS, Kent A, Jia B, Seddu K, Krchma K, Wu J, Crozat K, Tomasello E, Dress R, See P, Scott C, Gibbings S, Bajpai G, Desai JV, Maier B, This S, Wang P, Aguilar SV, Poupel L, Dussaud S, Zhou TA, Angeli V, Blander JM, Choi K, Dalod M, Dzhagalov I, Gautier EL, Jakubzick C, Lavine K, Lionakis MS, Paidassi H, Sieweke MH, Ginhoux F, Guilliams M, Benoist C, Merad M, Randolph GJ, Sergushichev A, Artyomov MN. Network analysis of large-scale ImmGen and Tabula Muris datasets highlights metabolic diversity of tissue mononuclear phagocytes. Cell Rep 2023;42:112046. [PMID: 36708514 PMCID: PMC10372199 DOI: 10.1016/j.celrep.2023.112046] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/01/2021] [Revised: 12/06/2022] [Accepted: 01/17/2023] [Indexed: 01/28/2023]  Open
41
Matsumoto M, Fujihara C, Nantakeeratipat T, Kitagaki J, Yamamoto Y, Yamada S, Kitamura M, Murakami S. Lipase-a single-nucleotide polymorphism rs143793106 is associated with increased risk of aggressive periodontitis by negative influence on the cytodifferentiation of human periodontal ligament cells. J Periodontal Res 2023;58:175-183. [PMID: 36494917 DOI: 10.1111/jre.13079] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/15/2022] [Revised: 10/30/2022] [Accepted: 11/26/2022] [Indexed: 12/14/2022]
42
Vasudevan K, Udhaya Kumar S, Mithun A, Raghavendra B, George Priya Doss C. Structure-based virtual screening to identify potential lipase inhibitors to reduce lipid storage in Wolman disorder. ADVANCES IN PROTEIN CHEMISTRY AND STRUCTURAL BIOLOGY 2023;133:351-363. [PMID: 36707205 DOI: 10.1016/bs.apcsb.2022.10.010] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/03/2022]
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Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study. Int J Mol Sci 2022;23:ijms232415549. [PMID: 36555187 PMCID: PMC9779616 DOI: 10.3390/ijms232415549] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/16/2022] [Revised: 12/04/2022] [Accepted: 12/06/2022] [Indexed: 12/14/2022]  Open
44
Hong X, Chen Y, Barr M, Gelb MH. Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots. Mol Genet Metab Rep 2022;33:100935. [PMID: 36393897 PMCID: PMC9664517 DOI: 10.1016/j.ymgmr.2022.100935] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/28/2022] [Revised: 10/29/2022] [Accepted: 10/30/2022] [Indexed: 11/11/2022]  Open
45
Ohira M, Barr M, Okuyama T, Mashima R. LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots. Mol Genet Metab Rep 2022;33:100913. [PMID: 36065451 PMCID: PMC9440593 DOI: 10.1016/j.ymgmr.2022.100913] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/11/2022] [Revised: 08/15/2022] [Accepted: 08/17/2022] [Indexed: 11/17/2022]  Open
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He M, Slee EA, Sun M, Hu C, Chang WT, Xu G, Lu X, Wang M. Defect in Ser312 phosphorylation of Tp53 dysregulates lipid metabolism for fatty accumulation and fatty liver susceptibility: Revealed by lipidomics. J Chromatogr B Analyt Technol Biomed Life Sci 2022;1211:123491. [DOI: 10.1016/j.jchromb.2022.123491] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/05/2021] [Revised: 08/20/2022] [Accepted: 09/29/2022] [Indexed: 11/29/2022]
47
Sen Sarma M, Tripathi PR. Natural history and management of liver dysfunction in lysosomal storage disorders. World J Hepatol 2022;14:1844-1861. [PMID: 36340750 PMCID: PMC9627439 DOI: 10.4254/wjh.v14.i10.1844] [Citation(s) in RCA: 6] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/27/2021] [Revised: 04/21/2022] [Accepted: 09/21/2022] [Indexed: 02/06/2023]  Open
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Giraldo P, López de Frutos L, Cebolla JJ. Recommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency. Expert Opin Orphan Drugs 2022. [DOI: 10.1080/21678707.2022.2131393] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/09/2022]
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Besler KJ, Blanchard V, Francis GA. Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease. Front Genet 2022;13:1013266. [PMID: 36204319 PMCID: PMC9530988 DOI: 10.3389/fgene.2022.1013266] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/06/2022] [Accepted: 09/06/2022] [Indexed: 11/13/2022]  Open
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Cunha-Silva M, de França EVC, Veiga CT, Greca RD, de Moraes PBS, de Campos Mazo DF, de Ataíde EC, Perales SR, Monici LT, Sevá-Pereira T. 15-Year progression to liver cancer in the lack of treatment for lysosomal acid lipase deficiency: A case report. Medicine (Baltimore) 2022;101:e30315. [PMID: 36107601 PMCID: PMC9439781 DOI: 10.1097/md.0000000000030315] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/03/2022]  Open
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