HofmannSandraMD

PubMed

• 3 citations
  Bortezomib in relapsed/refractory immune thrombotic thrombocytopenic purpura: A single-centre retrospective cohort and systematic literature review.
  Nicholas C J Lee, Sean Yates, Siayareh Rambally, Ravi Sarode, Ibrahim F Ibrahim, Yu-Min Shen, Sandra L Hofmann, Natalie R Bavli> ;British Journal of Haematology. 2024 Feb 1
• 2 citations
  Cross-species efficacy of enzyme replacement therapy for CLN1 disease in mice and sheep.
  Hemanth R Nelvagal, Samantha L Eaton, Sophie H Wang, Elizabeth M Eultgen, Keigo Takahashi, Steven Q Le, Rachel Nesbitt, Joshua T Dearborn, Nicholas Siano, Ana C Puhl, ...> ;The Journal of Clinical Investigation. 2022 Oct 17
• 1 citations
  Therapeutic plasma exchange in severe refractory autoimmune heparin-induced thrombocytopenia with thrombosis.
  Natalie Bavli, Bradley W. Christensen, Ravi Sarode, Sandra L. Hofmann, Ibrahim F. Ibrahim> ;British Journal of Haematology. 2021 Oct 27
• 6 citations
  Comparison of Low Fixed Dose Versus Standard-Dose Rituximab to Treat Thrombotic Thrombocytopenic Purpura in the Acute Phase and Preemptively During Remission
  Manasa Reddy, Sandra L. Hofmann, Yu-min P Shen, Srikanth Nagalla, Siayareh Rambally, Amena Usmani, Ravi Sarode> ;Transfusion and Apheresis Science. 2020 Jul 22
• 1 citations
  Resolution of acute hepatitis B-associated aplastic anaemia with antiviral therapy.
  Nicholas S. Hendren, Joseph A. Moore, Sandra L. Hofmann, Siayareh Rambally> ;BMJ Case Reports. 2017 Oct 3
• 2 citations
  Ischemic stroke in a patient with moderate to severe inherited factor VII deficiency
  Manasa Reddy, Bernard Tawfik, Chakri Gavva, Sean G. Yates, Nicole De Simone, Sandra L. Hofmann, Siayareh Rambally, Ravi Sarode> ;Transfusion and Apheresis Science. 2016 Dec 1
• 7 citations
  Histochemical localization of palmitoyl protein thioesterase-1 activity.
  Joshua T. Dearborn, Subramania Ramachandran, Charles Shyng, Jui Yun Lu, Jonah Thornton, Sandra L. Hofmann, Mark S. Sands> ;Molecular Genetics and Metabolism. 2016 Feb 1
• 25 citations
  Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis
  Jui Yun Lu, Hemanth R. Nelvagal, Lingling Wang, Shari G. Birnbaum, Jonathan D. Cooper, Sandra L. Hofmann> ;Molecular Genetics and Metabolism. 2015 Sep 1
• 33 citations
  Systematic siRNA screen unmasks NSCLC growth dependence by palmitoyltransferase DHHC5
  Hui Tian, Jui Yun Lu, Chunli Shao, Kenneth E. Huffman, Ryan Carstens, Jill E. Larsen, Luc Girard, Hui Liu, Jaime Rodriguez-Canales, Eugene P. Frenkel, Ignacio I. Wistu...> ;Molecular Cancer Research. 2015 Apr 1
• 61 citations
  Massive palmitoylation-dependent endocytosis during reoxygenation of anoxic cardiac muscle
  Mei Jung Lin, Michael Fine, Jui Yun Lu, Sandra L. Hofmann, Gary Frazier, Donald W. Hilgemann> ;Elife. 2013 Nov 26
• 30 citations
  Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a...
  Jie Hu, Jui Yun Lu, Andrew Wong, Linda S. Hynan, Shari G. Birnbaum, Denis S. Yilmaz, Barbara M. Streit, Ewelina M. Lenartowicz, Thomas C M Thompson, Jonathan D. Cooper...> ;Molecular Genetics and Metabolism. 2012 Sep 1
• 108 citations
  DHHC5 Protein Palmitoylates Flotillin-2 and Is Rapidly Degraded on Induction of Neuronal Differentiation in Cultured Cells
  Yi Li, Brent R. Martin, Benjamin F. Cravatt, Sandra L. Hofmann> ;The Journal of Biological Chemistry. 2012 Jan 2
• 46 citations
  A role for the Ca2+ channel TRPML1 in gastric acid secretion, based on analysis of knockout mice.
  Manjari Chandra, Hua Zhou, Qin Li, Shmuel Muallem, Sandra L. Hofmann, Abigail A. Soyombo> ;Gastroenterology. 2011 Mar 1
• 55 citations
  A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund.
  Douglas N. Sanders, Fabiana H. G. Farias, Gary S. Johnson, Vivian Chiang, James R. Cook, Dennis P. O'Brien, Sandra L. Hofmann, Jui Yun Lu, Martin L. Katz> ;Molecular Genetics and Metabolism. 2010 Aug 1
• 60 citations
  DHHC5 Interacts with PDZ Domain 3 of Post-synaptic Density-95 (PSD-95) Protein and Plays a Role in Learning and Memory
  Yi Li, Jie Hu, Klemens Höfer, Andrew Wong, Jonathan D. Cooper, Shari G. Birnbaum, Robert E. Hammer, Sandra L. Hofmann> ;The Journal of Biological Chemistry. 2010 Apr 23
• 33 citations
  Human recombinant palmitoyl protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis
  Jui Yun Lu, Jie Hu, Sandra L. Hofmann> ;Molecular Genetics and Metabolism. 2010 Apr 1
• 26 citations
  Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory ...
  Xingwen Qiao, Jui Yun Lu, Sandra L. Hofmann> ;BMC Neuroscience. 2007 Nov 16
• 69 citations
  Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins.
  Aija Kyttälä, Ulla Lahtinen, Thomas Braulke, Sandra L. Hofmann> ;Biochimica Et Biophysica Acta. 2006 Oct 1
• 48 citations
  Thematic review series: lipid posttranslational modifications. Lysosomal metabolism of lipid-modified proteins.
  Jui Yun Lu, Sandra L. Hofmann> ;Journal of Lipid Research. 2006 Jul 1
• 18 citations
  Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: implications for treatment of infantile neuronal ceroid lipofuscinosis.
  Jui-Yun Lu, Sandra L. Hofmann> ;Journal of Inherited Metabolic Disease. 2006 Feb 1
• 60 citations
  Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice.
  Tuhin Virmani, Praveena Gupta, Xinran Liu, Ege T. Kavalali, Sandra L. Hofmann> ;Neurobiology of Disease. 2005 Nov 1
• 14 citations
  Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease.
  Steve K. Cho, Ningguo Gao, David A. Pearce, Mark A. Lehrman, Sandra L. Hofmann> ;Glycobiology. 2005 Jun 1
• 149 citations
  Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis
  Ellen Bible, Praveena Gupta, Sandra L. Hofmann, Jonathan D. Cooper> ;Neurobiology of Disease. 2004 Jul 1
• 10 citations
  pdf1, a Palmitoyl Protein Thioesterase 1 Ortholog in Schizosaccharomyces pombe: a Yeast Model of Infantile Batten Disease
  Steve K. Cho, Sandra L. Hofmann> ;Eukaryotic Cell. 2004 Apr 1
• 32 citations
  Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features
  Praveena Gupta, Abigail A. Soyombo, John M. Shelton, Ian G. Wilkofsky, Krystyna E. Wisniewski, James A. Richardson, Sandra L. Hofmann> ;Proceedings of the National Academy of Sciences of the United States of America. 2003 Oct 14
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Journal Articles

• DHHC5 palmitoylates flotillin-2 and is rapidly degraded on induction of neuronal differentiation in cultured cells  
  Li Y, Martin BR, Cravatt BF, Hofmann SL, J Biol Chem, 1/1/2012
• Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a...  
  Hu J, Lu J-Y, Wong AMS, Hynan LS, Birnbaum SG, Yilmaz DS, et al, Mol Genet Metab, 1/1/2012
• A role for the Ca2+ channel TRPML1 in gastric acid secretion, based on analysis of knockout mice  
  Chandra M, Zhou H, Li Q, Muallem S, Hofmann SL, Soyombo AA, Gastroenterol, 1/1/2011
• Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroidlipofuscinosis  
  Lu JY, Hu J, Hofmann SL, Mol Genet Metab, 1/1/2010
• A mutation in canine PPT1 causes early onset neuronal ceroidlipofuscinosis in a Dachshund  
  Sanders DN, Farias FH, Johnson GS, Chiang V, Cook JR, O'Brien DP, Hofmann SL, Lu JY, Katz ML, Mol Genet Metab, 1/1/2010
• Gene expression profiling in a mouse model of infantile neuronal ceroidlipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory r...  
  Qiao X, Lu JY, Hofmann SL, BMC Neurosci, 1/1/2007
• Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: implications for treatment of infantile neuronal ceroidlipofuscinosis  
  Lu JY, Hofmann SL, J Inherit Metab Dis, 1/1/2006
• Functional biology of the neuronal ceroidlipofuscinoses (NCL) proteins  
  Kyttala A, Lahtinen U, Braulke T, Hofmann SL, BiochimBiophysActa, 1/1/2006
• Thematic review series: lipid posttranslational modifications Lysosomal metabolism of lipid-modified proteins  
  Lu JY, Hofmann SL, J Lipid Re, 1/1/2006
• Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease  
  Cho SK, Gao N, Pearce DA, Lehrman MA, Hofmann SL, Glycobiology, 1/1/2005
• Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroidlipofuscinosis  
  Bible E, Gupta P, Hofmann SL, Cooper JD, Neurobiol Dis, 1/1/2004
• pdf1, a palmitoyl protein thioesterase 1 ortholog in Schizosaccharomycespombe: a yeast model of infantile Batten disease  
  Cho SK, Hofmann SL, Eukaryot Cell, 1/1/2004
• The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomalthioesterases, PPT1 and PPT2  
  Calero G, Gupta P, Nonato MC, Tandel S, Biehl ER, Hofmann SL, Clardy J, J Biol Chem, 1/1/2003
• Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features  
  Gupta P, Soyombo AA, Shelton JM, Wilkofsky IG, Wisniewski KE, Richardson JA, Hofmann SL, ProcNatlAcadSci U S A, 1/1/2003
• The effects of lysosomotropic agents on normal and INCL cells provide further evidence for the lysosomal nature of palmitoyl-protein thioesterase function  
  Lu JY, Verkruyse LA, Hofmann SL, BiochimBiophysActa, 1/1/2002
• Neuronal ceroidlipofuscinosis/Batten disease: the lysosomalproteinoses  
  Gupta P, Hofmann SL, Mol Psychiatry, 1/1/2002
• The expanding spectrum of lysosomal storage disorders  
  Hofmann SL, CurrMol Med, 1/1/2002
• Neuronal ceroidlipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2)  
  Hofmann SL, Atashband A, Cho SK, Das AK, Gupta P, Lu JY, CurrMol Med, 1/1/2002
• Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroidlipofuscinosis  
  Das AK, Lu JY, Hofmann SL, Hum Mol Genet, 1/1/2001
• Disruption of PPT1 or PPT2 causes neuronal ceroidlipofuscinosis in knockout mice  
  Gupta P, Soyombo AA, Atashband A, Wisniewski KE, Shelton JM, Richardson JA, Hammer RE, Hofmann SL, ProcNatlAcadSci U S A, 1/1/2001
• New mutations in the neuronal ceroidlipofuscinosis genes  
  Mole SE, Zhong NA, Sarpong A, Logan WP, Hofmann SL, Yi W, Franken PF, van Diggelen OP, Breuning MH, Moroziewicz D, Ju W, Salonen T, Holmberg V, Jarvela I, Taschner PEM, Eur J Ped Neurol, 1/1/2001
• Positional candidate gene cloning of CLN1  
  Hofmann SL, Das AK, Lu JY, Soyombo AA, Adv Genet, 1/1/2001
• Infantile neuronal ceroidlipofuscinosis: no longer just a 'Finnish' disease  
  Hofmann SL, Das AK, Lu JY, Wisniewski KE, Gupta P, Eur J Paediatr Neurol, 1/1/2001
• The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroidlipofuscinosis  
  Bellizzi JJ, 3rd, Widom J, Kemp C, Lu JY, Das AK, Hofmann SL, Clardy J, ProcNatlAcadSci U S A, 1/1/2000
• Structural basis for the insensitivity of a serine enzyme (palmitoyl-protein thioesterase) to phenylmethylsulfonyl fluoride  
  Das AK, Bellizzi JJ, 3rd, Tandel S, Biehl E, Clardy J, Hofmann SL, J Biol Chem, 1/1/2000
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Books/Book Chapters

• Protein Epidemiology: Understanding Human Diseases at the Level of Protein Structure and Function 
  Chapter: The Neuronal CeroidLipofuscinoses. 
  Hofmann SEditors: Dunn B.The Biomedical and Life Sciences Collection, Henry Stewart Talks, Ltd, London2007
• Fundamental Neuroscience 
  Chapter: Batten disease. 
  Hofmann SLEditors: Squire LR, Bloom FE, Roberts JL, Zigmond MJ, McConnell SK, Spitzer NC.Elsevier, San Diego2003
• The Encyclopedia of Molecular Medicine 
  Chapter: Palmitoyl-Protein Thioesterase. 
  Page 2378 - 2380Hofmann SLEditors: Creighton TE.Wiley, Inc., New York2002
• The Metabolic and Molecular Basis of Inherited Disease 
  Chapter: The neuronal ceroidlipofuscinoses. 
  Page 3877 - 3894Hofmann SL, Peltonen LEditors: Scriver CR, Beaudet AL, Sly WS, Valle D.MacGraw-Hill, New YorkEdition 8th,2001
• The Regulation of Coagulation 
  Chapter: The formation of thrombin on the platelet surface. 
  Page 215 - 224Majerus PM, Miletich JP, Kane WH, Hofmann SL, Stanford N, Jackson CMEditors: Mann KJ, Taylor FB.Elsevier, New York1980
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Lectures

• "Molecular Basis of Infantile Batten Disease: Impact of disordered palmitoylated protein degradation on the nervous system" 
  San Diego, CA - 4/30/2014
• "Clinical and Genotypic Characteristics of INCL" 
  Bethesda, MD - 3/28/2014
• Session Chair: Biology of Protein Lipidation in Neurons: "Impact of Defective Degradation of Palmitoylated Proteins on Neurons" 
  Saxton's River, VT - 7/16/2013
• "Protein S-Acylation and Deacylation Impacting Neuronal Cells" 
  Boston, MA - 4/24/2013
• "Protein palmitoylation in neuronal function and dysfunction" 
  Manhattan, KS - 2/13/2013
• "Intravenous High-Dose Enzyme Replacement Therapy with Recombinant Human Palmitoyl-Protein Thioesterase Reduces Brain and Visceral Storage in a Mouse Model of Infantil... 
  London, UK - 3/31/2012
• Session Chair: Role of Lipid-modified Proteins in Health and Disease #2: "Protein Palmitoylation and Batten Disease" 
  Saxton's River, VT - 7/31/2009
• Session Chair: Genetic Disorders Affecting Protein Lipidation and Lipid Trafficking "Palmitoyl-Proteomics of Neural Stem Cells Yields Insights into DHHC Substrate Spec... 
  Saxton's River, VT - 7/28/2009
• "Protein Palmitoylation and CLN1" 
  Hamburg, Germany - 6/4/2009
• "Metabolic Profiling of Infantile Neuronal CeroidLipofuscinosis" 
  San Diego, CA - 2/18/2009
• "Molecular Basis of Infantile Batten Disease" 
  Baton Rouge, LA - 1/20/2009
• Session Chair: Molecular Basis of Batten Disease: "Palmitoyl-Protein Thioesterase and the Molecular Basis of Infantile NCL" 
  Helsinki, Finland - 6/15/2007
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