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Items: 1 to 20 of 21

1.

Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann-Pick A disease.

Dodge JC, Clarke J, Treleaven CM, Taksir TV, Griffiths DA, Yang W, Fidler JA, Passini MA, Karey KP, Schuchman EH, Cheng SH, Shihabuddin LS.

Exp Neurol. 2009 Feb;215(2):349-57. doi: 10.1016/j.expneurol.2008.10.021. Epub 2008 Nov 14.

PMID:
19059399
2.

Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease.

Schuchman EH.

FEBS Lett. 2010 May 3;584(9):1895-900. doi: 10.1016/j.febslet.2009.11.083. Epub 2009 Nov 26. Review.

3.

Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice.

Ledesma MD, Prinetti A, Sonnino S, Schuchman EH.

J Neurochem. 2011 Mar;116(5):779-88. doi: 10.1111/j.1471-4159.2010.07034.x. Epub 2011 Jan 7. Review.

4.

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.

Schuchman EH.

Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S48-57. Review.

PMID:
20040312
5.

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.

Schuchman EH.

J Inherit Metab Dis. 2007 Oct;30(5):654-63. Epub 2007 Jul 12. Review.

PMID:
17632693
6.

Delivery of recombinant proteins via the cerebrospinal fluid as a therapy option for neurodegenerative lysosomal storage diseases.

Hemsley KM, Hopwood JJ.

Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S118-23. Review.

PMID:
20040322
7.

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

Zampieri S, Filocamo M, Pianta A, Lualdi S, Gort L, Coll MJ, Sinnott R, Geberhiwot T, Bembi B, Dardis A.

Hum Mutat. 2016 Feb;37(2):139-47. doi: 10.1002/humu.22923. Epub 2015 Dec 1. Review.

PMID:
26499107
8.

The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases.

Smith EL, Schuchman EH.

FASEB J. 2008 Oct;22(10):3419-31. doi: 10.1096/fj.08-108043. Epub 2008 Jun 20. Review.

9.

Types A and B Niemann-Pick Disease.

Schuchman EH, Wasserstein MP.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:674-81. Review.

PMID:
27491215
10.

Use of acid sphingomyelinase for cancer therapy.

Savić R, Schuchman EH.

Adv Cancer Res. 2013;117:91-115. doi: 10.1016/B978-0-12-394274-6.00004-2. Review.

PMID:
23290778
11.

[Annexins in Niemann-Pick type C disease].

Buszewska ME, Strzelecka-Kiliszek A, Tylki-Szymańska A, Bandorowicz-Pikuła J.

Postepy Biochem. 2007;53(2):169-73. Review. Polish.

PMID:
17969878
12.

[Niemann-Pick disease [type A and B] (acid sphingomyelinase deficiencies)].

Higaki K, Ohno K.

Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):360-2. Review. Japanese. No abstract available.

PMID:
9645083
13.

Stimulation of lysosomal sphingomyelin degradation by sphingolipid activator proteins.

Ferlinz K, Linke T, Bartelsen O, Weiler M, Sandhoff K.

Chem Phys Lipids. 1999 Nov;102(1-2):35-43. Review.

PMID:
11001559
14.

Mouse models of human lysosomal diseases.

Suzuki K, Proia RL, Suzuki K.

Brain Pathol. 1998 Jan;8(1):195-215. Review.

PMID:
9458176
15.

Glycosphingolipid disorders of the brain.

Boomkamp SD, Butters TD.

Subcell Biochem. 2008;49:441-67. doi: 10.1007/978-1-4020-8831-5_17. Review.

PMID:
18751922
16.

[How does the landscape change in lysosomal storage disease].

Parini R.

Pediatr Med Chir. 2007 Sep-Oct;29(5):275-8. Review. Italian. No abstract available.

PMID:
18402399
17.

Applications of lentiviral vectors for biology and gene therapy of neurological disorders.

Lundberg C, Björklund T, Carlsson T, Jakobsson J, Hantraye P, Déglon N, Kirik D.

Curr Gene Ther. 2008 Dec;8(6):461-73. Review.

PMID:
19075629
18.

Immune system irregularities in lysosomal storage disorders.

Castaneda JA, Lim MJ, Cooper JD, Pearce DA.

Acta Neuropathol. 2008 Feb;115(2):159-74. Epub 2007 Oct 9. Review.

PMID:
17924126
19.

Recent advances in the biochemistry and genetics of sphingolipidoses.

Ozkara HA.

Brain Dev. 2004 Dec;26(8):497-505. Review.

PMID:
15533650
20.

Musculoskeletal complications encountered in the lysosomal storage disorders.

Pastores GM.

Best Pract Res Clin Rheumatol. 2008 Oct;22(5):937-47. doi: 10.1016/j.berh.2008.09.005. Review.

PMID:
19028373

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