• 4830 Citations
  • 37 h-Index
1978 …2018

Research output per year

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Research Output

  • 4830 Citations
  • 37 h-Index
  • 87 Article
  • 1 Chapter
2018

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

9 Scopus citations
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

2016
Open Access
3 Scopus citations

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

5 Scopus citations

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

2 Scopus citations
2015

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

20 Scopus citations

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

20 Scopus citations

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

12 Scopus citations
2013

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

39 Scopus citations
2012

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

80 Scopus citations

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

25 Scopus citations
2011

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

34 Scopus citations
2010

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

47 Scopus citations

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

48 Scopus citations
31 Scopus citations
2007
19 Scopus citations
2006

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

79 Scopus citations

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

66 Scopus citations
22 Scopus citations

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

42 Scopus citations
2005

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

34 Scopus citations

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

14 Scopus citations

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

57 Scopus citations

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

29 Scopus citations
2004

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

11 Scopus citations

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

122 Scopus citations
2003

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

25 Scopus citations

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

26 Scopus citations

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

26 Scopus citations
2002

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

33 Scopus citations

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

28 Scopus citations

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

1 Scopus citations

Preface

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

Research output: Contribution to journalArticle

22 Scopus citations
2001

3 Positional candidate gene cloning of CLN1

Hofmann, S. L., Das, A. K., Lu, J. Y. & Soyombo, A. A., 2001, Advances in Genetics. Vol. 45. p. 69-92 24 p. (Advances in Genetics; vol. 45).

Research output: Chapter in Book/Report/Conference proceedingChapter

11 Scopus citations

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

42 Scopus citations

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

198 Scopus citations

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

8 Scopus citations

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

22 Scopus citations
2000

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

18 Scopus citations

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

42 Scopus citations

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

115 Scopus citations
1999
2 Scopus citations

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

32 Scopus citations
2 Scopus citations

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

9 Scopus citations

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

45 Scopus citations
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

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

124 Scopus citations

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

107 Scopus citations