PMC Articles for MedGen (Select 423619) - PMC

Stephane E. Castel, Alejandra Cervera, Pejman Mohammadi, François Aguet, Ferran Reverter, Aaron Wolman, Roderic Guigo, Ivan Iossifov, Ana Vasileva, Tuuli Lappalainen

Nat Genet. Author manuscript; available in PMC 2019 Feb 20.

Published in final edited form as: Nat Genet. 2018 Sep; 50(9): 1327–1334. Published online 2018 Aug 20. doi: 10.1038/s41588-018-0192-y

PMCID:: PMC6119105

Abstract Article PDF–791K

Select item 113543634.

Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency

Karina Lucio de Medeiros Bastos, Bruno de Oliveira Stephan, Bianca Domit Werner Linnenkamp, Larissa Athayde Costa, Fabiana Roberto Lima, Laura Machado Lara Carvalho, Rachel Sayuri Honjo, Uenis Tannuri, Ana Cristina Aoun Tannuri, Chong Ae Kim

Int J Mol Sci. 2024 Aug; 25(16): 8648. Published online 2024 Aug 8. doi: 10.3390/ijms25168648

PMCID:: PMC11354363

Abstract Article PDF–1.6M

Select item 57604805.

Impact of loss of SOAT2 function on disease progression in the lysosomal acid lipase-deficient mouse

Adam M. Lopez, Jen-Chieh Chuang, Stephen D. Turley

Steroids. Author manuscript; available in PMC 2019 Feb 1.

Published in final edited form as: Steroids. 2018 Feb; 130: 7–14. Published online 2017 Dec 13. doi: 10.1016/j.steroids.2017.11.015

PMCID:: PMC5760480

Abstract Article PDF–976K

Select item 57077636.

HuD and the Survival Motor Neuron Protein Interact in Motoneurons and Are Essential for Motoneuron Development, Function, and mRNA Regulation

Thi Hao le, Phan Q. Duy, Min An, Jared Talbot, Chitra C. Iyer, Marc Wolman, Christine E. Beattie

J Neurosci. 2017 Nov 29; 37(48): 11559–11571. doi: 10.1523/JNEUROSCI.1528-17.2017

PMCID:: PMC5707763

Abstract Article PDF–3.1M

Select item 48572097.

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Simon A. Jones, Vassili Valayannopoulos, Eugene Schneider, Stephen Eckert, Maryam Banikazemi, Martin Bialer, Stephen Cederbaum, Alicia Chan, Anil Dhawan, Maja Di Rocco, Jennifer Domm, Gregory M. Enns, David Finegold, J. Jay Gargus, Ornella Guardamagna, Christian Hendriksz, Iman G. Mahmoud, Julian Raiman, Laila A. Selim, Chester B. Whitley, Osama Zaki, Anthony G. Quinn

Genet Med. 2016 May; 18(5): 452–458. Published online 2015 Aug 27. doi: 10.1038/gim.2015.108

PMCID:: PMC4857209

Abstract Article PDF–473K

Select item 46910328.

Does Lysosomial Acid Lipase Reduction Play a Role in Adult Non-Alcoholic Fatty Liver Disease?

Francesco Baratta, Daniele Pastori, Licia Polimeni, Giulia Tozzi, Francesco Violi, Francesco Angelico, Maria Del Ben

Int J Mol Sci. 2015 Dec; 16(12): 28014–28021. Published online 2015 Nov 25. doi: 10.3390/ijms161226085

PMCID:: PMC4691032

Abstract Article PDF–456K

Select item 46139659.

PRD125, a Potent and Selective Inhibitor of Sterol O-Acyltransferase 2 Markedly Reduces Hepatic Cholesteryl Ester Accumulation and Improves Liver Function in Lysosomal Acid Lipase-Deficient Mice

Adam M. Lopez, Jen-Chieh Chuang, Kenneth S. Posey, Taichi Ohshiro, Hiroshi Tomoda, Lawrence L. Rudel, Stephen D. Turley

J Pharmacol Exp Ther. 2015 Nov; 355(2): 159–167. Published online 2015 Nov. doi: 10.1124/jpet.115.227207

PMCID:: PMC4613965

Abstract Article PDF–815K

Select item 429931610.

Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency

Yuritzi Santillán-Hernández, Enory Almanza-Miranda, Winnie W Xin, Kendrick Goss, Aurea Vera-Loaiza, María T Gorráez-de la Mora, Raul E Piña-Aguilar

World J Gastroenterol. 2015 Jan 21; 21(3): 1001–1008. Published online 2015 Jan 21. doi: 10.3748/wjg.v21.i3.1001

PMCID:: PMC4299316

Abstract Article PDF–1.8M

Select item 411957911.

Myeloid-Derived Suppressor Cells Are Involved in Lysosomal Acid Lipase Deficiency-Induced Endothelial Cell Dysfunctions

Ting Zhao, Xinchun Ding, Hong Du, Cong Yan

J Immunol. Author manuscript; available in PMC 2015 Aug 15.

Published in final edited form as: J Immunol. 2014 Aug 15; 193(4): 1942–1953. Published online 2014 Jul 7. doi: 10.4049/jimmunol.1301941

PMCID:: PMC4119579

Abstract Article PDF–978K

Select item 402453612.

Infant case of lysosomal acid lipase deficiency: Wolman's disease

Meghmala Sadhukhan, Amit Saha, Roshni Vara, Bim Bhaduri

BMJ Case Rep. 2014; 2014: bcr2013202652. Published online 2014 May 15. doi: 10.1136/bcr-2013-202652

PMCID:: PMC4024536

Abstract Article PDF–185K

Select item 396902213.

APOL1 Risk Variants, Race, and Progression of Chronic Kidney Disease

Afshin Parsa, W.H. Linda Kao, Dawei Xie, Brad C. Astor, Man Li, Chi-yuan Hsu, Harold I. Feldman, Rulan S. Parekh, John W. Kusek, Tom H. Greene, Jeffrey C. Fink, Amanda H. Anderson, Michael J. Choi, Jackson T. Wright, Jr., James P. Lash, Barry I. Freedman, Akinlolu Ojo, Cheryl A. Winkler, Dominic S. Raj, Jeffrey B. Kopp, Jiang He, Nancy G. Jensvold, Kaixiang Tao, Michael S. Lipkowitz, Lawrence J. Appel

N Engl J Med. Author manuscript; available in PMC 2014 Jun 5.

Published in final edited form as: N Engl J Med. 2013 Dec 5; 369(23): 2183–2196. Published online 2013 Nov 9. doi: 10.1056/NEJMoa1310345

PMCID:: PMC3969022

Abstract Article PDF–815K

Select item 602470914.

Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia

Verónica Botero, Victor H. Garcia, Catalina Gomez-Duarte, Ana M. Aristizabal, Ana M. Arrunategui, Gabriel J. Echeverri, Harry Pachajoa

Am J Case Rep. 2018; 19: 669–672. Published online 2018 Jun 9. doi: 10.12659/AJCR.908808

PMCID:: PMC6024709

Abstract Article PDF–333K

Select item 369014915.

Frequency of the Cholesteryl Ester Storage Disease Common LIPA E8SJM Mutation (c.894G>A) in Various Racial and Ethnic Groups

Stuart A. Scott, Benny Liu, Irina Nazarenko, Suparna Martis, Julia Kozlitina, Yao Yang, Charina Ramirez, Yumi Kasai, Tommy Hyatt, Inga Peter, Robert J. Desnick

Hepatology. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Hepatology. 2013 Sep; 58(3): 958–965. Published online 2013 Jul 29. doi: 10.1002/hep.26327

PMCID:: PMC3690149

Abstract Article PDF–570K

Select item 359042316.

Diagnosing mucopolysaccharidosis IVA

Timothy C. Wood, Katie Harvey, Michael Beck, Maira Graeff Burin, Yin-Hsiu Chien, Heather J. Church, Vânia D’Almeida, Otto P. van Diggelen, Michael Fietz, Roberto Giugliani, Paul Harmatz, Sara M. Hawley, Wuh-Liang Hwu, David Ketteridge, Zoltan Lukacs, Nicole Miller, Marzia Pasquali, Andrea Schenone, Jerry N. Thompson, Karen Tylee, Chunli Yu, Christian J. Hendriksz

J Inherit Metab Dis. 2013; 36(2): 293–307. Published online 2013 Feb 1. doi: 10.1007/s10545-013-9587-1

PMCID:: PMC3590423

Abstract Article PDF–493K

Select item 348487017.

Zebrafish neurofibromatosis type 1 genes have redundant functions in tumorigenesis and embryonic development

Jimann Shin, Arun Padmanabhan, Eric D. de Groh, Jeong-Soo Lee, Sam Haidar, Suzanne Dahlberg, Feng Guo, Shuning He, Marc A. Wolman, Michael Granato, Nathan D. Lawson, Scot A. Wolfe, Seok-Hyung Kim, Lilianna Solnica-Krezel, John P. Kanki, Keith L. Ligon, Jonathan A. Epstein, A. Thomas Look

Dis Model Mech. 2012 Nov; 5(6): 881–894. Published online 2012 Jul 5. doi: 10.1242/dmm.009779

PMCID:: PMC3484870

Abstract Article

Select item 335576618.

Survival Motor Neuron Affects Plastin 3 Protein Levels Leading to Motor Defects

Le T. Hao, Marc Wolman, Michael Granato, Christine E. Beattie

J Neurosci. 2012 Apr 11; 32(15): 5074–5084. doi: 10.1523/JNEUROSCI.5808-11.2012

PMCID:: PMC3355766

Abstract Article PDF–1.9M

Select item 316242319.

Lysosomal Acid Lipase Deficiency Impairs Regulation of ABCA1 Gene and Formation of High Density Lipoproteins in Cholesteryl Ester Storage Disease

Kristin L. Bowden, Nicolas J. Bilbey, Leanne M. Bilawchuk, Emmanuel Boadu, Rohini Sidhu, Daniel S. Ory, Hong Du, Teddy Chan, Gordon A. Francis

J Biol Chem. 2011 Sep 2; 286(35): 30624–30635. Published online 2011 Jul 10. doi: 10.1074/jbc.M111.274381

PMCID:: PMC3162423

Abstract Article PDF–1.8M

Select item 194649420.

Wolman's Disease: A Microscopic and Biochemical Study Showing Accumulation of Ceroid and Esterified Cholesterol

J. A. Lowden, A. J. Barson, P. Wentworth

Can Med Assoc J. 1970 Feb 28; 102(4): 402–405.

PMCID:: PMC1946494

Summary Page Browse PDF–1.2M

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