Lysosomal Acid Lipase Deficiency - A New Therapy for a Genetic Lipid Disease

被引：23
作者：
Rader, Daniel J. [1 ]
机构：
[1] Univ Penn, Philadelphia, PA 19104 USA
来源：
NEW ENGLAND JOURNAL OF MEDICINE | 2015年 / 373卷 / 11期
关键词：
ESTER STORAGE DISEASE; MODEL;
D O I：
10.1056/NEJMe1509055
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：1071 / 1073
页数：3
相关论文
共 10 条
  • [1] Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease
    Bernstein, Donna L.
    Huelkova, Helena
    Bialer, Martin G.
    Desnick, Robert J.
    [J]. JOURNAL OF HEPATOLOGY, 2013, 58 (06) : 1230 - 1243
  • [2] A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
    Burton, B. K.
    Balwani, M.
    Feillet, F.
    Baric, I.
    Burrow, T. A.
    Camarena Grande, C.
    Coker, M.
    Consuelo-Sanchez, A.
    Deegan, P.
    Di Rocco, M.
    Enns, G. M.
    Erbe, R.
    Ezgu, F.
    Ficicioglu, C.
    Furuya, K. N.
    Kane, J.
    Laukaitis, C.
    Mengel, E.
    Neilan, E. G.
    Nightingale, S.
    Peters, H.
    Scarpa, M.
    Schwab, K. O.
    Smolka, V.
    Valayannopoulos, V.
    Wood, M.
    Goodman, Z.
    Yang, Y.
    Eckert, S.
    Rojas-Caro, S.
    Quinn, A. G.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2015, 373 (11) : 1010 - 1020
  • [3] Ezetimibe markedly attenuates hepatic cholesterol accumulation and improves liver function in the lysosomal acid lipase-deficient mouse, a model for cholesteryl ester storage disease
    Chuang, Jen-Chieh
    Lopez, Adam M.
    Posey, Kenneth S.
    Turley, Stephen D.
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2014, 443 (03) : 1073 - 1077
  • [4] Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges
    Desnick, R. J.
    Schuchman, E. H.
    [J]. ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 13, 2012, 13 : 307 - 335
  • [5] Reduction of atherosclerotic plaques by lysosomal acid lipase supplementation
    Du, H
    Schiavi, S
    Wan, N
    Levine, M
    Witte, DP
    Grabowski, GA
    [J]. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2004, 24 (01) : 147 - 154
  • [6] Klein AD, 2013, PEDIATR ENDOCR REV P, V11, P59
  • [7] Lysosomal acid lipase deficiency - An under-recognized cause of dyslipidaemia and liver dysfunction
    Reiner, Zeljko
    Guardamagna, Ornella
    Nair, Devaki
    Soran, Handrean
    Hovingh, Kees
    Bertolini, Stefano
    Jones, Simon
    Coric, Marijana
    Calandra, Sebastiano
    Hamilton, John
    Eagleton, Terence
    Ros, Emilio
    [J]. ATHEROSCLEROSIS, 2014, 235 (01) : 21 - 30
  • [8] Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia
    Stitziel, Nathan O.
    Fouchier, Sigrid W.
    Sjouke, Barbara
    Peloso, Gina M.
    Moscoso, Alessa M.
    Auer, Paul L.
    Goel, Anuj
    Gigante, Bruna
    Barnes, Timothy A.
    Melander, Olle
    Orho-Melander, Marju
    Duga, Stefano
    Sivapalaratnam, Suthesh
    Nikpay, Majid
    Martinelli, Nicola
    Girelli, Domenico
    Jackson, Rebecca D.
    Kooperberg, Charles
    Lange, Leslie A.
    Ardissino, Diego
    McPherson, Ruth
    Farrall, Martin
    Watkins, Hugh
    Reilly, Muredach P.
    Rader, Daniel J.
    de Faire, Ulf
    Schunkert, Heribert
    Erdmann, Jeanette
    Samani, Nilesh J.
    Charnas, Lawrence
    Altshuler, David
    Gabriel, Stacey
    Kastelein, John J. P.
    Defesche, Joep C.
    Nederveen, Aart J.
    Kathiresan, Sekar
    Hovingh, G. Kees
    [J]. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2013, 33 (12) : 2909 - 2914
  • [9] Reversal of advanced disease in lysosomal acid lipase deficient mice: A model for lysosomal acid lipase deficiency disease
    Sun, Ying
    Xu, You-Hai
    Du, Hong
    Quinn, Brian
    Liou, Benjamin
    Stanton, Lori
    Inskeep, Venette
    Ran, Huimin
    Jakubowitz, Phillip
    Grilliot, Nicholas
    Grabowski, Gregory A.
    [J]. MOLECULAR GENETICS AND METABOLISM, 2014, 112 (03) : 229 - 241
  • [10] Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency
    Valayannopoulos, Vassili
    Malinova, Vera
    Honzik, Tomas
    Balwani, Manisha
    Breen, Catherine
    Deegan, Patrick B.
    Enns, Gregory M.
    Jones, Simon A.
    Kane, John P.
    Stock, Eveline O.
    Tripuraneni, Radhika
    Eckert, Stephen
    Schneider, Eugene
    Hamilton, Gavin
    Middleton, Michael S.
    Sirlin, Claude
    Kessler, Bruce
    Bourdon, Christopher
    Boyadjiev, Simeon A.
    Sharma, Reena
    Twelves, Chris
    Whitley, Chester B.
    Quinn, Anthony G.
    [J]. JOURNAL OF HEPATOLOGY, 2014, 61 (05) : 1135 - 1142
1