-
1
-
-
23844449568
-
AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease
-
DOI 10.1016/j.ymthe.2005.03.011, PII S1525001605001139
-
Barbon CM, Ziegler RJ, Li C, Armentano D, Cherry M, Desnick RJ et al. AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease. Mol Ther. 2005; 12: 431-440. (Pubitemid 41150128)
-
(2005)
Molecular Therapy
, vol.12
, Issue.3
, pp. 431-440
-
-
Barbon, C.M.1
Ziegler, R.J.2
Li, C.3
Armentano, D.4
Cherry, M.5
Desnick, R.J.6
Schuchman, E.H.7
Cheng, S.H.8
-
2
-
-
0030941491
-
Treatment of patients with Niemann-Pick type is using repeated amniotic epithelial cells implantation: Correction of aggregation and coagulation abnormalities
-
Cerneca F, Andolina M, Simeone R, Boscolo R, Ciana G, Bembi B. Treatment of patients with Niemann-Pick Type is using repeated amniotic epithelial cells implantation: correction of aggregation and coagulation abnormalities. Clin Pediatr. 1997; 36: 141-146. (Pubitemid 27131793)
-
(1997)
Clinical Pediatrics
, vol.36
, Issue.3
, pp. 141-146
-
-
Cerneca, F.1
Andolina, M.2
Simeone, R.3
Boscolo, R.4
Ciana, G.5
Bembi, B.6
-
3
-
-
16844368149
-
Substrate reduction therapy for lysosomal storage diseases
-
Cox TM. Substrate reduction therapy for lysosomal storage diseases. Acta Paediatr. 2005; 94 (Suppl 447): 69-75.
-
(2005)
Acta Paediatr
, vol.94
, Issue.SUPPL. 447
, pp. 69-75
-
-
Cox, T.M.1
-
4
-
-
0025962882
-
Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1-p15.4
-
da Veiga Pereira L, Desnick RJ, Adler DA, Disteche CM, Schuchman EH. Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1-p15.4. Genomics. 1991; 9: 229-234.
-
(1991)
Genomics
, vol.9
, pp. 229-234
-
-
Da Veiga Pereira, L.1
Desnick, R.J.2
Adler, D.A.3
Disteche, C.M.4
Schuchman, E.H.5
-
5
-
-
0017636707
-
Replacement therapy for inherited enzyme deficiency: Liver orthotopic transplantation in Niemann-Pick disease Type A
-
Daloze P, Delvin EE, Glorieux FH, Corman JL, Bettez P, Toussi T. Replacement therapy for inherited enzyme deficiency: liver orthotopic transplantation in Niemann-Pick disease Type A. Am J Med Genet. 1977; 1: 229-239.
-
(1977)
Am J Med Genet.
, vol.1
, pp. 229-239
-
-
Daloze, P.1
Delvin, E.E.2
Glorieux, F.H.3
Corman, J.L.4
Bettez, P.5
Toussi, T.6
-
6
-
-
27444435779
-
A lipid analogue that inhibits sphingomyelin hydrolysis and synthesis, increases ceramide, and leads to cell death
-
DOI 10.1194/jlr.M500136-JLR200
-
Darroch PI, Dagan A, Granot T, He X, Gatt S, Schuchman EH. A lipid analogue that inhibits sphingomyelin hydrolysis and synthesis, increases ceramide, and leads to cell death. J Lipid Res. 2005; 46: 2315-2324. (Pubitemid 41532520)
-
(2005)
Journal of Lipid Research
, vol.46
, Issue.11
, pp. 2315-2324
-
-
Darroch, P.I.1
Dagan, A.2
Granot, T.3
He, X.4
Gatt, S.5
Schuchman, E.H.6
-
7
-
-
46849109959
-
Correlation of MRI-based bone marrow burden score with genotype and spleen status in Gaucher's disease
-
DOI 10.2214/AJR.07.3550
-
DeMayo RF, Haims AH, McRae MC, Yang R, Mistry PK. Correlation of MRI-based bone marrow burden score with genotype and spleen status in Gaucher's disease. Am J Roentgenol. 2008; 191: 115-123. (Pubitemid 351955212)
-
(2008)
American Journal of Roentgenology
, vol.191
, Issue.1
, pp. 115-123
-
-
DeMayo, R.F.1
Haims, A.H.2
McRae, M.C.3
Yang, R.4
Mistry, P.K.5
-
8
-
-
0347093304
-
Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: Implications for Niemann-Pick disease enzyme replacement therapy
-
DOI 10.1074/jbc.M309465200
-
Dhami R, Schuchman EH. Mannose 6-phosphate receptor- mediated uptake is defective in acid sphingomyelinase- deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy. J Biol Chem. 2004; 279: 1526-1532. (Pubitemid 38082682)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.2
, pp. 1526-1532
-
-
Dhami, R.1
Schuchman, E.H.2
-
9
-
-
32944461241
-
Gene expression analysis in acid sphingomyelinase deficient mice. Novel insights into disease pathogenesis and identification of potential biomarkers to monitor Niemann-Pick disease treatment
-
Dhami R, He X, Schuchman E. Gene expression analysis in acid sphingomyelinase deficient mice. Novel insights into disease pathogenesis and identification of potential biomarkers to monitor Niemann-Pick disease treatment. Mol Ther. 2005; 13: 556-563.
-
(2005)
Mol Ther
, vol.13
, pp. 556-563
-
-
Dhami, R.1
He, X.2
Schuchman, E.3
-
10
-
-
29144442863
-
Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease
-
DOI 10.1073/pnas.0509062102
-
Dodge JC, Clarke J, Song A, Bu J, Yang W, Taksir TV et al. Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick Type A disease. Proc Natl Acad Sci USA. 2005; 102: 17822-17827. (Pubitemid 41803581)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.49
, pp. 17822-17827
-
-
Dodge, J.C.1
Clarke, J.2
Song, A.3
Bu, J.4
Yang, W.5
Taksir, T.V.6
Griffiths, D.7
Zhao, M.A.8
Schuchman, E.H.9
Cheng, S.H.10
O'Riordan, C.R.11
Shihabuddin, L.S.12
Passini, M.A.13
Stewart, G.R.14
-
11
-
-
0043235841
-
Acontradictory treatment for lysosomal storage disorders: Inhibitors enhance mutant enzyme activity
-
Fan JQ. Acontradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity. Trends Pharmacol Sci. 2003; 24: 355-360.
-
(2003)
Trends Pharmacol Sci
, vol.24
, pp. 355-360
-
-
Fan, J.Q.1
-
12
-
-
0033018496
-
Accelerated transport and maturation of lysosomal α-galactosidase A in fabry lymphoblasts by an enzyme inhibitor
-
DOI 10.1038/4801
-
Fan JQ, Ishii S, Asano N, Suzuki Y. Accelerated transport and maturation of lysosomal α-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat Med. 1999; 5: 112-115. (Pubitemid 29051008)
-
(1999)
Nature Medicine
, vol.5
, Issue.1
, pp. 112-115
-
-
Fan, J.-Q.1
Ishii, S.2
Asano, N.3
Suzuki, Y.4
-
13
-
-
4444309565
-
The complex life of simple sphingolipids
-
Futerman AH, Hannun YA. The complex life of simple sphingolipids. EMBO Rep. 2004; 5: 777-782.
-
(2004)
EMBO Rep
, vol.5
, pp. 777-782
-
-
Futerman, A.H.1
Hannun, Y.A.2
-
14
-
-
77649228115
-
Pharmacological chaperone therapy by active-site specific chaperones in Fabry disease: In vitro and preclinical studies
-
Germain DP, Fan JQ. Pharmacological chaperone therapy by active-site specific chaperones in Fabry disease: in vitro and preclinical studies. Int J Clin Pharmacol Ther. 2009; 47 (Suppl 1): 111-117.
-
(2009)
Int J Clin Pharmacol Ther
, vol.47
, Issue.SUPPL. 1
, pp. 111-117
-
-
Germain, D.P.1
Fan, J.Q.2
-
15
-
-
0036042933
-
Acid sphingomyelinase-derived ceramide signaling in apoptosis
-
Gulbins E, Kolesnick R. Acid sphingomyelinase-derived ceramide signaling in apoptosis. Subcell Biochem. 2002; 36: 229-244.
-
(2002)
Subcell Biochem.
, vol.36
, pp. 229-244
-
-
Gulbins, E.1
Kolesnick, R.2
-
16
-
-
0242574357
-
Raft ceramide in molecular medicine
-
DOI 10.1038/sj.onc.1207146
-
Gulbins E, Kolesnick R. Raft ceramide in molecular medicine. Oncogene. 2003; 22: 7070-7077. (Pubitemid 37386676)
-
(2003)
Oncogene
, vol.22
, Issue.45 REV. ISS. 5
, pp. 7070-7077
-
-
Gulbins, E.1
Kolesnick, R.2
-
17
-
-
3042757722
-
Ceramide, membrane rafts and infections
-
DOI 10.1007/s00109-004-0539-y
-
Gulbins E, Dreschers S,Wilker B, Grassme H. Ceramide, membrane rafts and infections. J Mol Med. 2004; 82: 357-363. (Pubitemid 38887865)
-
(2004)
Journal of Molecular Medicine
, vol.82
, Issue.6
, pp. 357-363
-
-
Gulbins, E.1
Dreschers, S.2
Wilker, B.3
Grassme, H.4
-
18
-
-
0032974462
-
Characterization of human acid sphingomyelinase purified from the media of overexpressing Chinese hamster ovary cells
-
DOI 10.1016/S0167-4838(99)00069-2, PII S0167483899000692
-
He X, Miranda SR, Xiong X, Dagan A, Gatt S, Schuchman EH. Characterization of human acid sphingomyelinase purified from the media of overexpressing Chinese hamster ovary cells. Biochim Biophys Acta. 1999; 1432: 251-264. (Pubitemid 29304533)
-
(1999)
Biochimica et Biophysica Acta - Protein Structure and Molecular Enzymology
, vol.1432
, Issue.2
, pp. 251-264
-
-
He, X.1
Miranda, S.R.P.2
Xiong, X.3
Dagan, A.4
Gatt, S.5
Schuchman, E.H.6
-
19
-
-
0041355473
-
Purification and characterization of recombinant, human acid ceramidase: Catalytic reactions and interactions with acid sphingomyelinase
-
DOI 10.1074/jbc.M301936200
-
He X, Okino N, Dhami R, Dagan A, Gatt S, Schulze H et al. Purification and characterization of recombinant, human acid ceramidase. Catalytic reactions and interactions with acid sphingomyelinase. J Biol Chem. 2003; 278: 32978-32986. (Pubitemid 37055742)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.35
, pp. 32978-32986
-
-
He, X.1
Okino, N.2
Dhami, R.3
Dagan, A.4
Gatt, S.5
Schulze, H.6
Sandhoff, K.7
Schuchman, E.H.8
-
20
-
-
0029012443
-
Acid sphingomyelinase deficient mice: A model of Types A and B Niemann-Pick disease
-
Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K et al. Acid sphingomyelinase deficient mice: a model of Types A and B Niemann-Pick disease. Nat Genet. 1995; 10: 288-293.
-
(1995)
Nat Genet
, vol.10
, pp. 288-293
-
-
Horinouchi, K.1
Erlich, S.2
Perl, D.P.3
Ferlinz, K.4
Bisgaier, C.L.5
Sandhoff, K.6
-
21
-
-
0033060380
-
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin
-
DOI 10.1073/pnas.96.11.6388
-
Jeyakumar M, Butters TD, Cortina-Borja M, Hunnam V, Proia RL, Perry VH et al. Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin. Proc Natl Acad Sci USA. 1999; 96: 6388-6393. (Pubitemid 29256675)
-
(1999)
Proceedings of the National Academy of Sciences of the United States of America
, vol.96
, Issue.11
, pp. 6388-6393
-
-
Jeyakumar, M.1
Butters, T.D.2
Cortina-Borja, M.3
Hunnam, V.4
Proia, R.L.5
Perry, V.H.6
Dwek, R.A.7
Platt, F.M.8
-
22
-
-
35248875430
-
Combined bone marrow and intracerebral mesenchymal stem cell transplantation leads to synergistic visceral and neurological improvements in Niemann-Pick disease mice
-
Jin HK, Schuchman EH. Combined bone marrow and intracerebral mesenchymal stem cell transplantation leads to synergistic visceral and neurological improvements in Niemann-Pick disease mice. Mol Ther. 2003; 26: 775-785.
-
(2003)
Mol Ther
, vol.26
, pp. 775-785
-
-
Jin, H.K.1
Schuchman, E.H.2
-
23
-
-
53749099057
-
Characterization of common SMPD1 mutations causing Types Aand B Niemann-Pick disease and generation of mutation-specific mouse models
-
Jones I, He X, Katouzian F, Darroch PI, Schuchman EH. Characterization of common SMPD1 mutations causing Types Aand B Niemann-Pick disease and generation of mutation-specific mouse models. Mol Genet Metab. 2008; 95: 152-162.
-
(2008)
Mol Genet Metab
, vol.95
, pp. 152-162
-
-
Jones, I.1
He, X.2
Katouzian, F.3
Darroch, P.I.4
Schuchman, E.H.5
-
24
-
-
0014497188
-
Infantile Niemann- Pick disease. A chemical study with isolation and characterization of membranous cytoplasmic bodies and myelin
-
Kamoshita S, Aron AM, Suzuki K. Infantile Niemann- Pick disease. A chemical study with isolation and characterization of membranous cytoplasmic bodies and myelin. Am J Dis Child. 1969; 117: 379-394.
-
(1969)
Am J Dis Child
, vol.117
, pp. 379-394
-
-
Kamoshita, S.1
Aron, A.M.2
Suzuki, K.3
-
25
-
-
0141757451
-
Radiation and ceramide-induced apoptosis
-
DOI 10.1038/sj.onc.1206702
-
Kolesnick R, Fuks Z. Radiation and ceramide-induced apoptosis. Oncogene. 2003; 22: 5897-5906. (Pubitemid 37176710)
-
(2003)
Oncogene
, vol.22
, Issue.37 REV. ISS. 3
, pp. 5897-5906
-
-
Kolesnick, R.1
Fuks, Z.2
-
26
-
-
0031919157
-
Regulation of ceramide production and apoptosis
-
Kolesnick R, Kronke M. Regulation of ceramide production and apoptosis. Annu Rev Physiol. 1998; 60: 643- 665.
-
(1998)
Annu Rev Physiol
, vol.60
, pp. 643-665
-
-
Kolesnick, R.1
Kronke, M.2
-
27
-
-
17544390315
-
Phosphatidylinositol-3,5-bisphosphate is a potent and selective inhibitor of acid sphingomyelinase
-
Kolzer M, Arenz C, Ferlinz K, Werth N, Schulze H, Klingenstein R et al. Phosphatidylinositol-3,5-bisphosphate is a potent and selective inhibitor of acid sphingomyelinase. Biol Chem. 2003; 384: 1293- 1298.
-
(2003)
Biol Chem
, vol.384
, pp. 1293-1298
-
-
Kolzer, M.1
Arenz, C.2
Ferlinz, K.3
Werth, N.4
Schulze, H.5
Klingenstein, R.6
-
28
-
-
12144281320
-
Functional characterization of the postulated intramolecular sphingolipid activator protein domain of human acid sphingomyelinase
-
DOI 10.1515/BC.2004.154
-
Kolzer M, Ferlinz K, Bartelsen O, Hoops SL, Lang F, Sandhoff K. Functional characterization of the postulated intramolecular sphingolipid activator protein domain of human acid sphingomyelinase. Biol Chem. 2004; 385: 1193-1195. (Pubitemid 40103794)
-
(2004)
Biological Chemistry
, vol.385
, Issue.12
, pp. 1193-1195
-
-
Kolzer, M.1
Ferlinz, K.2
Bartelsen, O.3
Locatelli, H.S.4
Lang, F.5
Sandhoff, K.6
-
29
-
-
0038620213
-
Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol
-
Lee CY, Krimbou L, Vincent J, Bernard C, Larramee P, Genest J Jr. et al. Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol. Hum Genet. 2003; 112: 552-562. (Pubitemid 36869049)
-
(2003)
Human Genetics
, vol.112
, Issue.5-6
, pp. 552-562
-
-
Lee, C.Y.1
Krimbou, L.2
Vincent, J.3
Bernard, C.4
Larramee, P.5
Genest Jr., J.6
Marcil, M.7
-
31
-
-
0025933937
-
Niemann-Pick Type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/ phenotype correlations in Type Aand B patients
-
Levran O, Desnick RJ, Schuchman EH. Niemann-Pick Type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/ phenotype correlations in Type Aand B patients. J Clin Invest. 1991b; 88: 806-810.
-
(1991)
J Clin Invest
, vol.88
, pp. 806-810
-
-
Levran, O.1
Desnick, R.J.2
Schuchman, E.H.3
-
32
-
-
0026788308
-
Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish Type A Niemann-Pick disease patients
-
Levran O, Desnick RJ, Schuchman EH. Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish Type A Niemann-Pick disease patients. Blood. 1992; 80: 2081-2087.
-
(1992)
Blood
, vol.80
, pp. 2081-2087
-
-
Levran, O.1
Desnick, R.J.2
Schuchman, E.H.3
-
33
-
-
0027250709
-
Type A Niemann-Pick disease: A frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients
-
Levran O, Desnick RJ, Schuchman EH. Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients. Hum Mutat. 1993; 2: 317-319. (Pubitemid 23231510)
-
(1993)
Human Mutation
, vol.2
, Issue.4
, pp. 317-319
-
-
Levran, O.1
Desnick, R.J.2
Schuchman, E.H.3
-
34
-
-
0035137630
-
Niemann-Pick disease versus acid sphingomyelinase deficiency
-
Lozano J, Morales A, Cremesti A, Fuks Z, Tilly JL, Schuchman E et al. Niemann-Pick disease versus acid sphingomyelinase deficiency. Cell Death Differ. 2001; 8: 100-103.
-
(2001)
Cell Death Differ
, vol.8
, pp. 100-103
-
-
Lozano, J.1
Morales, A.2
Cremesti, A.3
Fuks, Z.4
Tilly, J.L.5
Schuchman, E.6
-
35
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
DOI 10.1001/jama.281.3.249
-
Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999; 281: 249-254. (Pubitemid 29058114)
-
(1999)
Journal of the American Medical Association
, vol.281
, Issue.3
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
Carey, W.F.4
-
36
-
-
29444436043
-
Type B Niemann-Pick diseases: Findings at chest radiography, thin-section CT, and pulmonary function testing
-
DOI 10.1148/radiol.2381041696
-
Mendelson DS, Wasserstein MP, Desnick RJ, Glass R, Simpson W, Skloot G et al. Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology. 2006; 238: 339-345. (Pubitemid 43010612)
-
(2006)
Radiology
, vol.238
, Issue.1
, pp. 339-345
-
-
Mendelson, D.S.1
Wasserstein, M.P.2
Desnick, R.J.3
Glass, R.4
Simpson, W.5
Skloot, G.6
Vanier, M.7
Bembi, B.8
Giugliani, R.9
Mengel, E.10
Cox, G.F.11
McGovern, M.M.12
-
37
-
-
33847706096
-
Lipid rafts in health and disease
-
DOI 10.1042/BC20060051
-
Michel V, Bakovic M. Lipid rafts in health and disease. Biol Cell. 2007; 99: 129-140. (Pubitemid 46380925)
-
(2007)
Biology of the Cell
, vol.99
, Issue.3
, pp. 129-140
-
-
Michel, V.1
Bakovic, M.2
-
38
-
-
34249652902
-
Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation
-
DOI 10.1093/brain/awm026
-
Mihaylova V, Hantke J, Sinigerska I, Cherninkova S, Raicheva M, Bouwer S et al. Highly variable neural involvement in sphingomyelinase-deficient Niemann- Pick disease caused by an ancestral Gypsy mutation. Brain. 2007; 130: 1050-1061. (Pubitemid 47355602)
-
(2007)
Brain
, vol.130
, Issue.4
, pp. 1050-1061
-
-
Mihaylova, V.1
Hantke, J.2
Sinigerska, I.3
Cherninkova, S.4
Raicheva, M.5
Bouwer, S.6
Tincheva, R.7
Khuyomdziev, D.8
Bertranpetit, J.9
Chandler, D.10
Angelicheva, D.11
Kremensky, I.12
Seeman, P.13
Tournev, I.14
Kalaydjieva, L.15
-
39
-
-
0032522712
-
Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells into acid sphingomyelinase-deficient mice
-
DOI 10.1097/00007890-199804150-00005
-
Miranda SR, Erlich S, Friedrich VL Jr., Haskins ME, Gatt S, Schuchman EH. Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells into acid sphingomyelinase-deficient mice. Transplantation. 1998; 65: 884-892. (Pubitemid 28201438)
-
(1998)
Transplantation
, vol.65
, Issue.7
, pp. 884-892
-
-
Miranda, S.R.P.1
Erlich, S.2
Friedrich Jr., V.L.3
Haskins, M.E.4
Gatt, S.5
Schuchman, E.H.6
-
40
-
-
0033758952
-
Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease
-
Miranda SR, Erlich S, Friedrich VL Jr, Gatt S, Schuchman EH. Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease. Gene Ther. 2000a; 7: 1768-1776.
-
(2000)
Gene Ther.
, vol.7
, pp. 1768-1776
-
-
Miranda, S.R.1
Erlich, S.2
Friedrich Jr., V.L.3
Gatt, S.4
Schuchman, E.H.5
-
41
-
-
0033810516
-
Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology
-
Miranda SR, He X, Simonaro CM, Gatt S, Dagan A, Desnick RJ et al. Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology. FASEB J. 2000b; 14: 1988-1995.
-
(2000)
FASEB J
, vol.14
, pp. 1988-1995
-
-
Miranda, S.R.1
He, X.2
Simonaro, C.M.3
Gatt, S.4
Dagan, A.5
Desnick, R.J.6
-
42
-
-
0033786639
-
Oocyte apoptosis is suppressed by disruption of the acid sphingomyelinase gene or by sphingosine-1-phosphate therapy
-
Morita Y, Perez GI, Paris F, Miranda SR, Ehleiter D, Haimovitz-Friedman A et al. Oocyte apoptosis is suppressed by disruption of the acid sphingomyelinase gene or by sphingosine-1-phosphate therapy. Nat Med. 2000; 6: 1109-1114.
-
(2000)
Nat Med
, vol.6
, pp. 1109-1114
-
-
Morita, Y.1
Perez, G.I.2
Paris, F.3
Miranda, S.R.4
Ehleiter, D.5
Haimovitz-Friedman, A.6
-
43
-
-
0020723203
-
Niemann-Pick disease in adult: Report of a case surgically treated
-
Mylla Neto G, Costa R, Fernandes PM, de Lima EC, Ribeiro FM, Stolf NA. Niemann-Pick disease in adult: report of a case surgically treated. Rev Hosp Clin Fac Med Sao Paulo. 1983; 38: 83-85.
-
(1983)
Rev Hosp Clin Fac Med Sao Paulo
, vol.38
, pp. 83-85
-
-
Mylla Neto, G.1
Costa, R.2
Fernandes, P.M.3
De Lima, E.C.4
Ribeiro, F.M.5
Stolf, N.A.6
-
44
-
-
0036143924
-
Successful treatment of endogenous lipoid pneumonia due to Niemann-Pick Type B disease with whole-lung lavage
-
Nicholson AG, Wells AU, Hooper J, Hansell DM, Kelleher A, Morgan C. Successful treatment of endogenous lipoid pneumonia due to Niemann-Pick Type B disease with whole-lung lavage.AmJ Respir Crit Care Med. 2002; 165: 128-131. (Pubitemid 34053369)
-
(2002)
American Journal of Respiratory and Critical Care Medicine
, vol.165
, Issue.1
, pp. 128-131
-
-
Nicholson, A.G.1
Wells, A.U.2
Hooper, J.3
Hansell, D.M.4
Kelleher, A.5
Morgan, C.6
-
45
-
-
0029014350
-
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease)
-
Otterbach B, Stoffel W. Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). Cell. 1995; 81: 1053-1061.
-
(1995)
Cell.
, vol.81
, pp. 1053-1061
-
-
Otterbach, B.1
Stoffel, W.2
-
46
-
-
21144457361
-
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study
-
DOI 10.1007/s10545-005-5671-5
-
Pavlu-Pereira H, Asfaw B, Poupctova H, Ledvinova J, Sikora J, Vanier MT et al. Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. Amulti-approach study. J Inherit Metab Dis. 2005; 28: 203-227. (Pubitemid 40723888)
-
(2005)
Journal of Inherited Metabolic Disease
, vol.28
, Issue.2
, pp. 203-227
-
-
Pavlu-Pereira, H.1
Asfaw, B.2
Poupetova, H.3
Ledvinova, J.4
Sikora, J.5
Vanier, M.T.6
Sandhoff, K.7
Zeman, J.8
Novotna, Z.9
Chudoba, D.10
Elleder, M.11
-
47
-
-
10744233030
-
Prevalence of lysosomal storage diseases in Portugal
-
DOI 10.1038/sj.ejhg.5201044
-
Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004; 12: 87-92. (Pubitemid 38263551)
-
(2004)
European Journal of Human Genetics
, vol.12
, Issue.2
, pp. 87-92
-
-
Pinto, R.1
Caseiro, C.2
Lemos, M.3
Lopes, L.4
Fontes, A.5
Ribeiro, H.6
Pinto, E.7
Silva, E.8
Rocha, S.9
Marcao, A.10
Ribeiro, I.11
Lacerda, L.12
Ribeiro, G.13
Amaral, O.14
Sa, M.M.C.15
-
48
-
-
6044238051
-
Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick Type B patients and characterization of in vivo functional in-frame start codon
-
Pittis MG, Ricci V, Guerci VI, Marcais C, Ciana G, Dardis A et al. Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick Type B patients and characterization of in vivo functional in-frame start codon.HumMutat. 2004; 24: 186-187.
-
(2004)
HumMutat
, vol.24
, pp. 186-187
-
-
Pittis, M.G.1
Ricci, V.2
Guerci, V.I.3
Marcais, C.4
Ciana, G.5
Dardis, A.6
-
50
-
-
0030937840
-
Prevention of lysosomal storage in Tay-Sachs mice treated with N- butyldeoxynojirimycin
-
DOI 10.1126/science.276.5311.428
-
Platt FM, Neises GR, Reinkensmeier G, Townsend MJ, Perry VH, Proia RL et al. Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science. 1997; 276: 428-431. (Pubitemid 27180707)
-
(1997)
Science
, vol.276
, Issue.5311
, pp. 428-431
-
-
Platt, F.M.1
Neises, G.R.2
Reinkensmeier, G.3
Townsend, M.J.4
Perry, V.H.5
Proia, R.L.6
Winchester, B.7
Dwek, R.A.8
Butters, T.D.9
-
51
-
-
0032780351
-
The frequency of lysosomal storage diseases in The Netherlands
-
DOI 10.1007/s004399900075
-
Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, vanWeely S et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999; 105: 151-156. (Pubitemid 29396979)
-
(1999)
Human Genetics
, vol.105
, Issue.1-2
, pp. 151-156
-
-
Poorthuis, B.J.H.M.1
Wevers, R.A.2
Kleijer, W.J.3
Groener, J.E.M.4
De Jong, J.G.N.5
Van Weely, S.6
Niezen-Koning, K.E.7
Van Diggelen, O.P.8
-
52
-
-
0042858520
-
Activation of human acid sphingomyelinase through modification or deletion of C-terminal cysteine
-
Qiu H, Edmunds T, Baker-Malcolm J, Karey KP, Estes S, Schwarz C et al. Activation of human acid sphingomyelinase through modification or deletion of C-terminal cysteine. J Biol Chem. 2003; 278: 32744- 32752.
-
(2003)
J Biol Chem
, vol.278
, pp. 32744-32752
-
-
Qiu, H.1
Edmunds, T.2
Baker-Malcolm, J.3
Karey, K.P.4
Estes, S.5
Schwarz, C.6
-
53
-
-
16044364385
-
Acid sphingomyelinase deficient human lymphoblasts and mice are defective in radiation-induced apoptosis
-
Santana P, Pena LA, Haimovitz-Friedman A, Martin S, Green D, McLoughlin M et al. Acid sphingomyelinase deficient human lymphoblasts and mice are defective in radiation-induced apoptosis. Cell. 1996; 86: 189- 199.
-
(1996)
Cell.
, vol.86
, pp. 189-199
-
-
Santana, P.1
Pena, L.A.2
Haimovitz-Friedman, A.3
Martin, S.4
Green, D.5
McLoughlin, M.6
-
54
-
-
0023368536
-
Successful therapy of Niemann- Pick disease by implantation of human amnioticmembrane
-
Scaggiante B, Pineschi A, Sustersich M, Andolina M, Agosti E, Romeo D. Successful therapy of Niemann- Pick disease by implantation of human amnioticmembrane. Transplantation. 1987; 44: 59-61.
-
(1987)
Transplantation
, vol.44
, pp. 59-61
-
-
Scaggiante, B.1
Pineschi, A.2
Sustersich, M.3
Andolina, M.4
Agosti, E.5
Romeo, D.6
-
55
-
-
0029666484
-
2+-stimulated sphingomyelinase is secreted bymany cell types and is a product of the acid sphingomyelinase gene
-
2+- stimulated sphingomyelinase is secreted bymany cell types and is a product of the acid sphingomyelinase gene. J Biol Chem. 1996; 271: 18431-18436.
-
(1996)
J Biol Chem
, vol.271
, pp. 18431-18436
-
-
Schissel, S.L.1
Schuchman, E.H.2
Williams, K.J.3
Tabas, I.4
-
56
-
-
0001745899
-
Niemann-Pick disease Types A and B: Acid sphingomyelinase deficiencies
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). 8th ed. New York: McGraw-Hill
-
Schuchman EH, Desnick RJ. Niemann-Pick disease Types A and B: acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The metabolic and molecular bases of inherited diseases. 8th ed. New York: McGraw-Hill; 2001. p. 3589.
-
(2001)
The Metabolic and Molecular Bases of Inherited Diseases
, pp. 3589
-
-
Schuchman, E.H.1
Desnick, R.J.2
-
57
-
-
0031291717
-
Niemann-Pick disease: Mutation update, genotype/phenotype correlations, and prospects for genetic testing
-
Schuchman EH, Miranda SR. Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing. Genet Test. 1997; 1: 13-19. (Pubitemid 127526932)
-
(1997)
Genetic Testing
, vol.1
, Issue.1
, pp. 13-19
-
-
Schuchman, E.H.1
Miranda, S.R.P.2
-
59
-
-
0025819971
-
Human acid sphingomyelinase: Isolation, nucleotide sequence, and expression of the full-length and alternatively spliced cDNAs
-
Schuchman EH, Suchi M, Takahashi T, Sandhoff K, Desnick RJ. Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. J Biol Chem. 1991b; 266: 8531-8539. (Pubitemid 21906542)
-
(1991)
Journal of Biological Chemistry
, vol.266
, Issue.13
, pp. 8531-8539
-
-
Schuchman, E.H.1
Suchi, M.2
Takahashi, T.3
Sandhoff, K.4
Desnick, R.J.5
-
60
-
-
0026577992
-
Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)
-
Schuchman EH, Levran O, Pereira LV, Desnick RJ. Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). Genomics. 1992; 12: 197-205.
-
(1992)
Genomics
, vol.12
, pp. 197-205
-
-
Schuchman, E.H.1
Levran, O.2
Pereira, L.V.3
Desnick, R.J.4
-
61
-
-
0036914191
-
The demographics and distribution of type B Niemann-Pick disease: Novel mutations lead to new genotype/phenotype correlations
-
DOI 10.1086/345074
-
Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH. The demographics and distribution of Type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet. 2002; 71: 1413-1419. (Pubitemid 36015894)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.6
, pp. 1413-1419
-
-
Simonaro, C.M.1
Desnick, R.J.2
McGovern, M.M.3
Wasserstein, M.P.4
Schuchman, E.H.5
-
62
-
-
33646036424
-
Imprinting at the SMPD1 locus: Implications for acid sphingomyelinase- deficient Niemann-Pick disease
-
Simonaro CM, Park JH, Eliyahu E, Shtraizent N, McGovern MM, Schuchman EH. Imprinting at the SMPD1 locus: implications for acid sphingomyelinase- deficient Niemann-Pick disease. Am J Hum Genet. 2006; 78: 865-870.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 865-870
-
-
Simonaro, C.M.1
Park, J.H.2
Eliyahu, E.3
Shtraizent, N.4
McGovern, M.M.5
Schuchman, E.H.6
-
63
-
-
0027472816
-
Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher's diseases: Implications for the treatment of inherited metabolic disease
-
DOI 10.1016/0270-9139(93)90189-T
-
Smanik EJ, Tavill AS, Jacobs GH, Schafer IA, Farquhar L, Weber FL Jr et al. Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher's diseases: implications for the treatment of inherited metabolic disease. Hepatology. 1993; 17: 42-49. (Pubitemid 23027382)
-
(1993)
Hepatology
, vol.17
, Issue.1
, pp. 42-49
-
-
Smanik, E.J.1
Tavill, A.S.2
Jacobs, G.H.3
Schafer, I.A.4
Farquhar, L.5
Weber Jr., F.L.6
Mayes, J.T.7
Schulak, J.A.8
Petrelli, M.9
Zirzow, G.C.10
Oliver, K.L.11
Miller, S.P.F.12
Brady, R.O.13
-
64
-
-
0027487912
-
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa
-
DOI 10.1007/BF01247328
-
Vanier MT, Ferlinz K, Rousson R, Duthel S, Louisot P, Sandhoff K et al. Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease Type B patients from northern Africa. Hum Genet. 1993; 92: 325-330. (Pubitemid 23323591)
-
(1993)
Human Genetics
, vol.92
, Issue.4
, pp. 325-330
-
-
Vanier, M.T.1
Ferlinz, K.2
Rousson, R.3
Duthel, S.4
Louisot, P.5
Sandhoff, K.6
Suzuki, K.7
-
65
-
-
0942266394
-
Niemann-Pick disease: Sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant
-
DOI 10.1023/B:BOLI.0000009950.81514.c8
-
Victor S, Coulter JB, Besley GT, Ellis I, Desnick RJ, Schuchman EH et al. Niemann-Pick disease: sixteen- year follow-up of allogeneic bone marrow transplantation in a Type B variant. J Inherit Metab Dis. 2003; 26: 775-785. (Pubitemid 38139378)
-
(2003)
Journal of Inherited Metabolic Disease
, vol.26
, Issue.8
, pp. 775-785
-
-
Victor, S.1
Coulter, J.B.S.2
Besley, G.T.N.3
Ellis, I.4
Desnick, R.J.5
Schuchman, E.H.6
Vellodi, A.7
-
66
-
-
0028944481
-
A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region
-
Wan Q, Schuchman EH. A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region. Biochim Biophys Acta. 1995; 1270: 207-210.
-
(1995)
Biochim Biophys Acta
, vol.1270
, pp. 207-210
-
-
Wan, Q.1
Schuchman, E.H.2
-
67
-
-
33746820602
-
D609 blocks cell survival and induces apoptosis in neural stem cells
-
Wang N, Lv X, Su L, Zhao B, Zhang S, Miao J. D609 blocks cell survival and induces apoptosis in neural stem cells. Bioorg Med Chem Lett. 2006; 16: 4780- 4783.
-
(2006)
Bioorg Med Chem Lett
, vol.16
, pp. 4780-4783
-
-
Wang, N.1
Lv, X.2
Su, L.3
Zhao, B.4
Zhang, S.5
Miao, J.6
-
68
-
-
33748984649
-
Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease
-
DOI 10.1016/j.jpeds.2006.06.034, PII S0022347606005804
-
Wasserstein MP, Aron A, Brodie SE, Simonaro C, Desnick RJ, McGovern MM. Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr. 2006; 149: 554-559. (Pubitemid 44441414)
-
(2006)
Journal of Pediatrics
, vol.149
, Issue.4
, pp. 554-559
-
-
Wasserstein, M.P.1
Aron, A.2
Brodie, S.E.3
Simonaro, C.4
Desnick, R.J.5
McGovern, M.M.6
-
69
-
-
7444266956
-
Membrane lipid homeostasis
-
Wolf C, Quinn PJ. Membrane lipid homeostasis. Subcell Biochem. 2004; 37: 317-357.
-
(2004)
Subcell Biochem.
, vol.37
, pp. 317-357
-
-
Wolf, C.1
Quinn, P.J.2
|