Lu JY, Nelvagal HR, Wang L, Birnbaum SG, Cooper JD, Hofmann SL (2015)
Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis
Mol Genet Metab 116: 98

Hu J, Lu JY, Wong AM, Hynan LS, Birnbaum SG, Yilmaz DS, Streit BM, Lenartowicz EM, Thompson TC, Cooper JD, Hofmann SL (2012)
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
Mol Genet Metab 107: 213

Lu JY, Hu J, Hofmann SL (2010)
Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis
Mol Genet Metab 99: 374

Sanders DN, Farias FH, Johnson GS, Chiang V, Cook JR, O'Brien DP, Hofmann SL, Lu JY, Katz ML (2010)
A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund
Mol Genet Metab 100: 349

Qiao X, Lu JY, Hofmann SL (2007)
Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response
BMC Neurosci 8: 95

Kyttala A, Lahtinen U, Braulke T, Hofmann SL (2006)
Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins
Biochimica & Biophysica Acta 1762: 920

Lu JY, Hofmann SL (2006)
Thematic review series: lipid posttranslational modifications. Lysosomal metabolism of lipid-modified proteins
J Lipid Res 47: 1352

Virmani T, Gupta P, Liu X, Kavalali ET, Hofmann SL (2005)
Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice
Neurobiol Dis 20: 314

Calero G, Gupta P, Nonato MC, Tandel S, Biehl ER, Hofmann SL, Clardy J (2003)
The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2
Journal of Biological Chemistry 278: 37957

Elshatory Y, Brooks AI, Chattopadhyay S, Curran TM, Gupta P, Ramalingam V, Hofmann SL, Pearce DA (2003)
Early changes in gene expression in two models of Batten disease
FEBS Letters 538: 207

Gupta P, Soyombo AA, Shelton JM, Wilkofsky IG, Wisniewski KE, Richardson JA, Hofmann SL (2003)
Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features
Proc Natl Acad Sci U S A 100: 12325

Das AK, Lu JY, Hofmann SL (2001)
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis
Hum Mol Genet 10: 1431

Gupta P, Soyombo AA, Atashband A, Wisniewski KE, Shelton JM, Richardson JA, Hammer RE, Hofmann SL (2001)
Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice
Proc Natl Acad Sci U S A 98: 13566

Bellizzi JJ, 3rd, Widom J, Kemp C, Lu JY, Das AK, Hofmann SL, Clardy J (2000)
The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis
Proc Natl Acad Sci U S A 97: 4573

Das AK, Bellizzi JJ, 3rd, Tandel S, Biehl E, Clardy J, Hofmann SL (2000)
Structural basis for the insensitivity of a serine enzyme (palmitoyl-protein thioesterase) to phenylmethylsulfonyl fluoride
Journal of Biological Chemistry 275: 23847

Waliany S, Das AK, Gaben A, Wisniewski KE, Hofmann SL (2000)
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis
Hum Mutat 15: 206

Soyombo AA, Yi W, Hofmann SL (1999)
Structure of the human palmitoyl-protein thioesterase-2 gene (PPT2) in the major histocompatibility complex on chromosome 6p21.3
Genomics 56: 208

Das AK, Becerra CH, Yi W, Lu JY, Siakotos AN, Wisniewski KE, Hofmann SL (1998)
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S
Journal of Clinical Investigation 102: 361

Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM (1998)
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits
Hum Mol Genet 7: 291

Soyombo AA, Hofmann SL (1997)
Molecular cloning and expression of palmitoyl-protein thioesterase 2 (PPT2), a homolog of lysosomal palmitoyl-protein thioesterase with a distinct substrate specificity
Journal of Biological Chemistry 272: 27456

Lu JY, Verkruyse LA, Hofmann SL (1996)
Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase
Proc Natl Acad Sci U S A 93: 10046

Schriner JE, Yi W, Hofmann SL (1996)
cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis
Genomics 34: 317

Verkruyse LA, Hofmann SL (1996)
Lysosomal targeting of palmitoyl-protein thioesterase
Journal of Biological Chemistry 271: 15831

Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L (1995)
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
Nature 376: 584

Camp LA, Verkruyse LA, Afendis SJ, Slaughter CA, Hofmann SL (1994)
Molecular cloning and expression of palmitoyl-protein thioesterase
Journal of Biological Chemistry 269: 23212