| Title : Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes - Hufnagel_2015_J.Med.Genet_52_85 |
| Author(s) : Hufnagel RB , Arno G , Hein ND , Hersheson J , Prasad M , Anderson Y , Krueger LA , Gregory LC , Stoetzel C , Jaworek TJ , Hull S , Li A , Plagnol V , Willen CM , Morgan TM , Prows CA , Hegde RS , Riazuddin S , Grabowski GA , Richardson RJ , Dieterich K , Huang T , Revesz T , Martinez-Barbera JP , Sisk RA , Jefferies C , Houlden H , Dattani MT , Fink JK , Dollfus H , Moore AT , Ahmed ZM |
| Ref : Journal of Medical Genetics , 52 :85 , 2015 |
| Abstract : |
| PubMedSearch : Hufnagel_2015_J.Med.Genet_52_85 |
| PubMedID: 25480986 |
| Title : Reversal of advanced disease in lysosomal acid lipase deficient mice: a model for lysosomal acid lipase deficiency disease - Sun_2014_Mol.Genet.Metab_112_229 |
| Author(s) : Sun Y , Xu YH , Du H , Quinn B , Liou B , Stanton L , Inskeep V , Ran H , Jakubowitz P , Grilliot N , Grabowski GA |
| Ref : Mol Genet Metab , 112 :229 , 2014 |
| Abstract : |
| PubMedSearch : Sun_2014_Mol.Genet.Metab_112_229 |
| PubMedID: 24837159 |
| Gene_locus related to this paper: mouse-1llip |
| Title : Chemical screen to reduce sterol accumulation in Niemann-Pick C disease cells identifies novel lysosomal acid lipase inhibitors - Rosenbaum_2009_Biochim.Biophys.Acta_1791_1155 |
| Author(s) : Rosenbaum AI , Rujoi M , Huang AY , Du H , Grabowski GA , Maxfield FR |
| Ref : Biochimica & Biophysica Acta , 1791 :1155 , 2009 |
| Abstract : |
| PubMedSearch : Rosenbaum_2009_Biochim.Biophys.Acta_1791_1155 |
| PubMedID: 19699313 |
| Title : Wolman disease\/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice - Du_2008_J.Lipid.Res_49_1646 |
| Author(s) : Du H , Cameron TL , Garger SJ , Pogue GP , Hamm LA , White E , Hanley KM , Grabowski GA |
| Ref : J Lipid Res , 49 :1646 , 2008 |
| Abstract : |
| PubMedSearch : Du_2008_J.Lipid.Res_49_1646 |
| PubMedID: 18413899 |
| Gene_locus related to this paper: mouse-1llip |
| Title : Lysosomal Acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice - Du_2002_Hum.Gene.Ther_13_1361 |
| Author(s) : Du H , Heur M , Witte DP , Ameis D , Grabowski GA |
| Ref : Hum Gene Therapy , 13 :1361 , 2002 |
| Abstract : |
| PubMedSearch : Du_2002_Hum.Gene.Ther_13_1361 |
| PubMedID: 12162818 |
| Gene_locus related to this paper: mouse-1llip |
| Title : Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase - Tietge_2001_Hum.Gene.Ther_12_279 |
| Author(s) : Tietge UJ , Sun G , Czarnecki S , Yu Q , Lohse P , Du H , Grabowski GA , Glick JM , Rader DJ |
| Ref : Hum Gene Therapy , 12 :279 , 2001 |
| Abstract : |
| PubMedSearch : Tietge_2001_Hum.Gene.Ther_12_279 |
| PubMedID: 11177564 |
| Gene_locus related to this paper: human-LIPA |
| Title : Enzyme therapy for lysosomal acid lipase deficiency in the mouse - Du_2001_Hum.Mol.Genet_10_1639 |
| Author(s) : Du H , Schiavi S , Levine M , Mishra J , Heur M , Grabowski GA |
| Ref : Hum Mol Genet , 10 :1639 , 2001 |
| Abstract : |
| PubMedSearch : Du_2001_Hum.Mol.Genet_10_1639 |
| PubMedID: 11487567 |
| Gene_locus related to this paper: mouse-1llip |
| Title : Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span - Du_2001_J.Lipid.Res_42_489 |
| Author(s) : Du H , Heur M , Duanmu M , Grabowski GA , Hui DY , Witte DP , Mishra J |
| Ref : J Lipid Res , 42 :489 , 2001 |
| Abstract : |
| PubMedSearch : Du_2001_J.Lipid.Res_42_489 |
| PubMedID: 11290820 |
| Title : Unique cellular events occurring during the initial interaction of macrophages with matrix-retained or methylated aggregated low density lipoprotein (LDL). Prolonged cell-surface contact during which ldl-cholesteryl ester hydrolysis exceeds ldl protein degradation - Buton_1999_J.Biol.Chem_274_32112 |
| Author(s) : Buton X , Mamdouh Z , Ghosh R , Du H , Kuriakose G , Beatini N , Grabowski GA , Maxfield FR , Tabas I |
| Ref : Journal of Biological Chemistry , 274 :32112 , 1999 |
| Abstract : |
| PubMedSearch : Buton_1999_J.Biol.Chem_274_32112 |
| PubMedID: 10542246 |
| Title : Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage - Du_1998_Hum.Mol.Genet_7_1347 |
| Author(s) : Du H , Duanmu M , Witte D , Grabowski GA |
| Ref : Hum Mol Genet , 7 :1347 , 1998 |
| Abstract : |
| PubMedSearch : Du_1998_Hum.Mol.Genet_7_1347 |
| PubMedID: 9700186 |
| Gene_locus related to this paper: mouse-1llip |
| Title : Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease - Du_1998_Mol.Genet.Metab_64_126 |
| Author(s) : Du H , Sheriff S , Bezerra J , Leonova T , Grabowski GA |
| Ref : Mol Genet Metab , 64 :126 , 1998 |
| Abstract : |
| PubMedSearch : Du_1998_Mol.Genet.Metab_64_126 |
| PubMedID: 9705237 |
| Title : Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein - Du_1996_J.Lipid.Res_37_937 |
| Author(s) : Du H , Witte DP , Grabowski GA |
| Ref : J Lipid Res , 37 :937 , 1996 |
| Abstract : |
| PubMedSearch : Du_1996_J.Lipid.Res_37_937 |
| PubMedID: 8725147 |
| Gene_locus related to this paper: human-LIPA , mouse-1llip |
| Title : Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression - Sheriff_1995_J.Biol.Chem_270_27766 |
| Author(s) : Sheriff S , Du H , Grabowski GA |
| Ref : Journal of Biological Chemistry , 270 :27766 , 1995 |
| Abstract : |
| PubMedSearch : Sheriff_1995_J.Biol.Chem_270_27766 |
| PubMedID: 7499245 |
| Gene_locus related to this paper: human-LIPA |