Grabowski GA

References (13)

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 : 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 : 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 : 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 : 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 : 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 : 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 : 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