• 4821 Citations
  • 37 h-Index
1978 …2018
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Research Output 1978 2018

  • 4821 Citations
  • 37 h-Index
  • 89 Article
  • 1 Chapter
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Article
2018
9 Citations (Scopus)

Cross Linked Enzyme Aggregates as Versatile Tool for Enzyme Delivery: Application to Polymeric Nanoparticles

Galliani, M., Santi, M., Del Grosso, A., Cecchettini, A., Santorelli, F. M., Hofmann, S. L., Lu, J. Y., Angella, L., Cecchini, M. & Signore, G., Mar 21 2018, (Accepted/In press) In : Bioconjugate Chemistry.

Research output: Contribution to journalArticle

Nanoparticles
Enzymes
Nanostructures
Encapsulation
Galactosylceramidase
2017

Resolution of acute hepatitis B-associated aplastic anaemia with antiviral therapy

Hendren, N., Moore, J., Hofmann, S. & Rambally, S., 2017, In : BMJ Case Reports. 2017, bcr-2017-221503.

Research output: Contribution to journalArticle

Aplastic Anemia
Hepatitis B
Tenofovir
Antiviral Agents
Infection
2016
2 Citations (Scopus)
Open Access
Hemoglobin SC Disease
Hemoglobin
pain
Disease
Spherocytes
Hemoglobin SC Disease
Hemoglobin
pain
Disease
Spherocytes
5 Citations (Scopus)

Histochemical localization of palmitoyl protein thioesterase-activity

Dearborn, J. T., Ramachandran, S., Shyng, C., Lu, J. Y., Thornton, J., Hofmann, S. L. & Sands, M. S., Feb 1 2016, In : Molecular Genetics and Metabolism. 117, 2, p. 210-216 7 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Enzyme Replacement Therapy
Gene therapy
Enzymes
Genetic Therapy
2 Citations (Scopus)

Ischemic stroke in a patient with moderate to severe inherited factor VII deficiency

Reddy, M., Tawfik, B., Gavva, C., Yates, S., De Simone, N., Hofmann, S. L., Rambally, S. & Sarode, R., Dec 1 2016, In : Transfusion and Apheresis Science. 55, 3, p. 364-367 4 p.

Research output: Contribution to journalArticle

Factor VII Deficiency
clopidogrel
Thrombosis
Stroke
Hemorrhage
2015
20 Citations (Scopus)

Experimental therapies in the neuronal ceroid lipofuscinoses

Neverman, N. J., Best, H. L., Hofmann, S. L. & Hughes, S. M., Oct 1 2015, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1852, 10, p. 2292-2300 9 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Investigational Therapies
Lysosomal Storage Diseases
Premature Mortality
Cell- and Tissue-Based Therapy
20 Citations (Scopus)

Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis

Lu, J. Y., Nelvagal, H. R., Wang, L., Birnbaum, S. G., Cooper, J. D. & Hofmann, S. L., Sep 1 2015, In : Molecular Genetics and Metabolism. 116, 1-2, p. 98-105 8 p.

Research output: Contribution to journalArticle

Ceroid
Neuronal Ceroid-Lipofuscinoses
Enzyme Replacement Therapy
Knockout Mice
Enzymes
12 Citations (Scopus)

Systematic siRNA screen unmasks NSCLC growth dependence by palmitoyltransferase DHHC5

Tian, H., Lu, J. Y., Shao, C., Huffman, K. E., Carstens, R. M., Larsen, J. E., Girard, L., Liu, H., Rodriguez-Canales, J., Frenkel, E. P., Wistuba, I. I., Minna, J. D. & Hofmann, S. L., Apr 1 2015, In : Molecular Cancer Research. 13, 4, p. 784-794 11 p.

Research output: Contribution to journalArticle

Non-Small Cell Lung Carcinoma
Small Interfering RNA
Lipoylation
Growth
Neoplasms
2013
37 Citations (Scopus)

Massive palmitoylation-dependent endocytosis during reoxygenation of anoxic cardiac muscle

Lin, M. J., Fine, M., Lu, J. Y., Hofmann, S. L., Frazier, G. & Hilgemann, D. W., Nov 26 2013, In : eLife. 2013, 2, e01295.

Research output: Contribution to journalArticle

Lipoylation
Endocytosis
Muscle
Myocardium
Pumps
2012
80 Citations (Scopus)

DHHC5 protein palmitoylates flotillin-2 and is rapidly degraded on induction of neuronal differentiation in cultured cells

Li, Y., Martin, B. R., Cravatt, B. F. & Hofmann, S. L., Jan 2 2012, In : Journal of Biological Chemistry. 287, 1, p. 523-530 8 p.

Research output: Contribution to journalArticle

Lipoylation
Cultured Cells
Cells
Stem cells
Proteins
25 Citations (Scopus)

Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis

Hu, J., Lu, J. Y., Wong, A. M. S., Hynan, L. S., Birnbaum, S. G., Yilmaz, D. S., Streit, B. M., Lenartowicz, E. M., Thompson, T. C. M., Cooper, J. D. & Hofmann, S. L., Sep 2012, In : Molecular Genetics and Metabolism. 107, 1-2, p. 213-221 9 p.

Research output: Contribution to journalArticle

Ceroid
Neuronal Ceroid-Lipofuscinoses
Enzyme Replacement Therapy
Recombinant Proteins
Enzymes
2011
34 Citations (Scopus)

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, S. L. & Soyombo, A. A., Mar 2011, In : Gastroenterology. 140, 3, p. 857-867 11 p.

Research output: Contribution to journalArticle

Gastric Acid
Knockout Mice
Mucolipidoses
Achlorhydria
Proton Pumps
2010
47 Citations (Scopus)

A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund

Sanders, D. N., Farias, F. H., Johnson, G. S., Chiang, V., Cook, J. R., O'Brien, D. P., Hofmann, S. L., Lu, J. Y. & Katz, M. L., Aug 2010, In : Molecular Genetics and Metabolism. 100, 4, p. 349-356 8 p.

Research output: Contribution to journalArticle

Ceroid
Neuronal Ceroid-Lipofuscinoses
Canidae
Mutation
Dogs
48 Citations (Scopus)

DHHC5 interacts with PDZ domain 3 of post-synaptic density-95 (PSD-95) protein and plays a role in learning and memory

Li, Y., Hu, J., Höfer, K., Wong, A. M. S., Cooper, J. D., Birnbaum, S. G., Hammer, R. E. & Hofmann, S. L., Apr 23 2010, In : Journal of Biological Chemistry. 285, 17, p. 13022-13031 10 p.

Research output: Contribution to journalArticle

PDZ Domains
Post-Synaptic Density
Learning
Data storage equipment
Acyltransferases
31 Citations (Scopus)
Ceroid
Neuronal Ceroid-Lipofuscinoses
Enzyme Replacement Therapy
Recombinant Proteins
Enzymes
2007
19 Citations (Scopus)
Neuronal Ceroid-Lipofuscinoses
Immediate-Early Genes
Gene Expression Profiling
Up-Regulation
Genes
2006
78 Citations (Scopus)

Analysis of the synaptic vesicle proteome using three gel-based protein separation techniques

Burré, J., Beckhaus, T., Schägger, H., Corvey, C., Hofmann, S., Karas, M., Zimmermann, H. & Volknandt, W., Dec 2006, In : Proteomics. 6, 23, p. 6250-6262 13 p.

Research output: Contribution to journalArticle

Synaptic Vesicles
Proteome
Gels
Proteins
Polyacrylamide Gel Electrophoresis
66 Citations (Scopus)

Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins

Kyttälä, A., Lahtinen, U., Braulke, T. & Hofmann, S. L., Oct 2006, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1762, 10, p. 920-933 14 p.

Research output: Contribution to journalArticle

Ceroid
Neuronal Ceroid-Lipofuscinoses
Proteins
Endosomes
Lysosomes
22 Citations (Scopus)
Neuronal Ceroid-Lipofuscinoses
Cysteamine
Cystinosis
Palmitoyl Coenzyme A
Cystine
42 Citations (Scopus)

Lysosomal metabolism of lipid-modified proteins

Lu, J. Y. & Hofmann, S. L., 2006, In : Journal of Lipid Research. 47, 7, p. 1352-1357 6 p.

Research output: Contribution to journalArticle

Lipid Metabolism
Metabolism
Lipids
Proteins
dimethylaniline monooxygenase (N-oxide forming)
2005
34 Citations (Scopus)

Carbon source-dependent assembly of the Snf1p kinase complex in Candida albicans

Corvey, C., Koetter, P., Beckhaus, T., Hack, J., Hofmann, S., Hampel, M., Stein, T., Karas, M. & Entian, K. D., Jul 8 2005, In : Journal of Biological Chemistry. 280, 27, p. 25323-25330 8 p.

Research output: Contribution to journalArticle

Candida
Candida albicans
Yeast
Saccharomyces cerevisiae
Phosphotransferases
14 Citations (Scopus)

Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease

Cho, S. K., Gao, N., Pearce, D. A., Lehrman, M. A. & Hofmann, S. L., 2005, In : Glycobiology. 15, 6, p. 637-648 12 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Brain
Ceroid
Dolichol
Tissue
57 Citations (Scopus)

Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice

Virmani, T., Gupta, P., Liu, X., Kavalali, E. T. & Hofmann, S. L., Nov 2005, In : Neurobiology of Disease. 20, 2, p. 314-323 10 p.

Research output: Contribution to journalArticle

Synaptic Vesicles
Knockout Mice
Synapses
Neuronal Ceroid-Lipofuscinoses
Neurons
29 Citations (Scopus)

Rapid and sensitive identification of major histocompatibility complex class I-associated tumor peptides by nano-LC MALDI MS/MS

Hofmann, S., Glückmann, M., Kausche, S., Schmidt, A., Corvey, C., Lichtenfels, R., Huber, C., Albrecht, C., Karas, M. & Herr, W., Dec 2005, In : Molecular and Cellular Proteomics. 4, 12, p. 1888-1897 10 p.

Research output: Contribution to journalArticle

Matrix-Assisted Laser Desorption-Ionization Mass Spectrometry
HLA Antigens
Major Histocompatibility Complex
Tumors
Peptides
2004
11 Citations (Scopus)

pdf1, a palmitoyl protein thioesterase 1 ortholog in Schizosaccharomyces pombe: A yeast model of infantile batten disease

Cho, S. K. & Hofmann, S. L., Apr 2004, In : Eukaryotic Cell. 3, 2, p. 302-310 9 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Schizosaccharomyces
Schizosaccharomyces pombe
Yeasts
Open Reading Frames
120 Citations (Scopus)

Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis

Bible, E., Gupta, P., Hofmann, S. L. & Cooper, J. D., Jul 2004, In : Neurobiology of Disease. 16, 2, p. 346-359 14 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Interneurons
Gliosis
Cerebellum
Ceroid lipofuscinosis, neuronal 1, infantile
2003
24 Citations (Scopus)

Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features

Gupta, P., Soyombo, A. A., Shelton, J. M., Wilkofsky, I. G., Wisniewski, K. E., Richardson, J. A. & Hofmann, S. L., Oct 14 2003, In : Proceedings of the National Academy of Sciences of the United States of America. 100, 21, p. 12325-12330 6 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Pancreas
Bone Marrow
Macrophages
Extramedullary Hematopoiesis
26 Citations (Scopus)

Early changes in gene expression in two models of Batten disease

Elshatory, Y., Brooks, A. I., Chattopadhyay, S., Curran, T. M., Gupta, P., Ramalingam, V., Hofmann, S. L. & Pearce, D. A., Mar 13 2003, In : FEBS Letters. 538, 1-3, p. 207-212 6 p.

Research output: Contribution to journalArticle

Ceroid
Neuronal Ceroid-Lipofuscinoses
Gene expression
Pathology
Gene Expression
26 Citations (Scopus)

The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2

Calero, G., Gupta, P., Nonato, M. C., Tandel, S., Biehl, E. R., Hofmann, S. L. & Clardy, J., Sep 26 2003, In : Journal of Biological Chemistry. 278, 39, p. 37957-37964 8 p.

Research output: Contribution to journalArticle

Substrate Specificity
Crystal structure
Substrates
Ceroid
Palmitoyl Coenzyme A
2002
33 Citations (Scopus)

Identification and characterization of a cDNA encoding a dolichyl pyrophosphate phosphatase located in the endoplasmic reticulum of mammalian cells

Rush, J. S., Cho, S. K., Jiang, S., Hofmann, S. L. & Waechter, C. J., Nov 22 2002, In : Journal of Biological Chemistry. 277, 47, p. 45226-45234 9 p.

Research output: Contribution to journalArticle

dolichyl-phosphatase
Phosphoric Monoester Hydrolases
Endoplasmic Reticulum
Yeast
Complementary DNA
28 Citations (Scopus)

Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2)

Hofmann, S. L., Atashband, A., Cho, S. K., Das, A. K., Gupta, P. & Lu, J. Y., 2002, In : Current Molecular Medicine. 2, 5, p. 423-437 15 p.

Research output: Contribution to journalArticle

Ceroid
Neuronal Ceroid-Lipofuscinoses
Defects
Molecular Biology
Peptide Hydrolases
1 Citation (Scopus)

Neuronal ceroid lipofuscinosis/Batten disease: The lysosomal proteinoses

Gupta, P. & Hofmann, S. L., 2002, In : Molecular Psychiatry. 7, 5, p. 434-436 3 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Endopeptidases
Purkinje Cells
Membrane Proteins
Peptide Hydrolases

Preface

Hofmann, S. L., 2002, In : Current Molecular Medicine. 2, 5

Research output: Contribution to journalArticle

22 Citations (Scopus)
Neuronal Ceroid-Lipofuscinoses
Cysteine
Lipids
Proteins
Chloroquine
2001
42 Citations (Scopus)

Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis

Das, A. K., Lu, J. Y. & Hofmann, S. L., Jun 15 2001, In : Human Molecular Genetics. 10, 13, p. 1431-1439 9 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Mutation
Enzymes
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
COS Cells
198 Citations (Scopus)

Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice

Gupta, P., Soyombo, A. A., Atashband, A., Wisniewski, K. E., Shelton, J. M., Richardson, J. A., Hammer, R. E. & Hofmann, S. L., Nov 20 2001, In : Proceedings of the National Academy of Sciences of the United States of America. 98, 24, p. 13566-13571 6 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Knockout Mice
Brain
Myoclonus
palmitoyl-protein thioesterase
8 Citations (Scopus)

Infantile neuronal ceroid lipofuscinosis: No longer just a 'Finnish' disease

Hofmann, S. L., Das, A. K., Lu, J. Y., Wisniewski, K. E. & Gupta, P., 2001, In : European Journal of Paediatric Neurology. 5, SUPPL. A, p. 47-51 5 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Cysteine
Scandinavian and Nordic Countries
Lipofuscin
Protein Deficiency
22 Citations (Scopus)

New mutations in the neuronal ceroid lipofuscinosis genes

Mole, S. E., Zhong, N. A., Sarpong, A., Logan, W. P., Hofmann, S., Yi, W., Franken, P. F., Van Diggelen, O. P., Breuning, M. H., Moroziewicz, D., Ju, W., Salonen, T., Holmberg, V., Järvelä, I. & Taschner, P. E. M., 2001, In : European Journal of Paediatric Neurology. 5, SUPPL. A, p. 7-10 4 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Mutation
Genes
Databases
2000
18 Citations (Scopus)

Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.

Waliany, S., Das, A. K., Gaben, A., Wisniewski, K. E. & Hofmann, S. L., Feb 2000, In : Human Mutation. 15, 2, p. 206-207 2 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Mutation
Genes
Alleles
palmitoyl-protein thioesterase
41 Citations (Scopus)

Structural basis for the insensitivity of a serine enzyme (Palmitoyl-protein thioesterase) to phenylmethylsulfonyl fluoride

Das, A. K., Bellizzi, J. J., Tandel, S., Biehl, E., Clardy, J. & Hofmann, S. L., Aug 4 2000, In : Journal of Biological Chemistry. 275, 31, p. 23847-23851 5 p.

Research output: Contribution to journalArticle

Phenylmethylsulfonyl Fluoride
Serine
Enzymes
Lipase
Catalytic Domain
114 Citations (Scopus)

The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis

Bellizzi, J. J., Widom, J., Kemp, C., Lu, J. Y., Das, A. K., Hofmann, S. L. & Clardy, J., Apr 25 2000, In : Proceedings of the National Academy of Sciences of the United States of America. 97, 9, p. 4573-4578 6 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Mutation
Palmitates
Hydrolases
Neurodegenerative Diseases
1999
2 Citations (Scopus)
Thiolester Hydrolases
Lipid Metabolism
Sulfhydryl Compounds
Fatty Acids
Lipids
32 Citations (Scopus)

Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency

Hofmann, S. L., Das, A. K., Yi, W., Lu, J. Y. & Wisniewski, K. E., Apr 1999, In : Molecular Genetics and Metabolism. 66, 4, p. 234-239 6 p.

Research output: Contribution to journalArticle

Ceroid
Neuronal Ceroid-Lipofuscinoses
Protein Deficiency
Genetic Association Studies
Mutation
2 Citations (Scopus)
Thiolester Hydrolases
Sulfur Radioisotopes
Isotope Labeling
Lipid Metabolism
Sulfhydryl Compounds
9 Citations (Scopus)

Structure of the human palmitoyl-protein thioesterase-2 gene (PPT2) in the major histocompatibility complex on chromosome 6p21.3

Soyombo, A. A., Yi, W. & Hofmann, S. L., Mar 1 1999, In : Genomics. 56, 2, p. 208-216 9 p.

Research output: Contribution to journalArticle

Major Histocompatibility Complex
Chromosomes
Genes
Neuronal Ceroid-Lipofuscinoses
Exons
45 Citations (Scopus)

The neuronal ceroid-lipofuscinoses (Batten disease): A new class of lysosomal storage diseases

Bennett, M. J. & Hofmann, S. L., 1999, In : Journal of Inherited Metabolic Disease. 22, 4, p. 535-544 10 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Lysosomal Storage Diseases
Proteins
Intracellular Membranes
Genetic Loci
1998

Corrigendum: Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (Human Molecular Genetics (1998) 7 (291-297))

Mitchison, H. M., Hofmann, S. L., Becerra, C. H. R., Munroe, P. B., Lake, B. D., Crow, Y. J., Stephenson, J. B. P., Williams, R. E., Hofman, I. L., Taschner, P. E. M., Martin, J. J., Philippart, M., Andermann, E., Andermann, F., Mole, S. E., Gardiner, R. M. & O'Rawe, A. M., 1998, In : Human Molecular Genetics. 7, 4, p. 765 1 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Medical Genetics
Molecular Biology
Mutation
Genes
124 Citations (Scopus)

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

Das, A. K., Becerra, C. H. R., Yi, W., Lu, J. Y., Siakotos, A. N., Wisniewski, K. E. & Hofmann, S. L., Jul 15 1998, In : Journal of Clinical Investigation. 102, 2, p. 361-370 10 p.

Research output: Contribution to journalArticle

Protein Deficiency
Molecular Biology
Mutation
Neuronal Ceroid-Lipofuscinoses
Alleles
107 Citations (Scopus)

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits

Mitchison, H. M., Hofmann, S. L., Becerra, C. H. R., Munroe, P. B., Lake, B. D., Crow, Y. J., Stephenson, J. B. P., Williams, R. E., Hofman, I. L., Taschner, P. E. M., Martin, J. J., Philippart, M., Andermann, E., Andermann, F., Mole, S. E., Gardiner, R. M. & O'Rawe, A. M., Feb 1998, In : Human Molecular Genetics. 7, 2, p. 291-297 7 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Nonsense Codon
Missense Mutation
Mutation
Chromosomes