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Volumn 121, Issue 12, 2011, Pages 4624-4627

The debut of a rational treatment for an inherited neuropathy?

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYSPHINGOLIPID; SERINE; SERINE PALMITOYLTRANSFERASE; SERINE PALMITOYLTRANSFERASE LONG CHAIN BASE SUBUNIT 1; SPHINGOLIPID; UNCLASSIFIED DRUG;

EID: 84055217329     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI60511     Document Type: Note
Times cited : (14)

References (16)
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  • 3
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    • Shy ME, Lupski JR, Chance PF, Klein CJ, Dyck PJ. Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features. In: Dyck PJ, Thomas PK, eds. Peripheral Neuropathy. Philadelphia, Pennsylvania, USA: Saunders; 2005:1623-1658.
    • (2005) Peripheral Neuropathy , pp. 1623-1658
    • Shy, M.E.1    Lupski, J.R.2    Chance, P.F.3    Klein, C.J.4    Dyck, P.J.5
  • 4
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    • Human Genome Variation Society web site. Updated February 17, Accessed September 23, 2011
    • Timmerman V. Inherited Peripheral Neuropathies Mutation Database. Human Genome Variation Society web site. http://www.molgen.ua.ac. be/CMTMutations/. Updated February 17, 2011. Accessed September 23, 2011.
    • (2011) Inherited Peripheral Neuropathies Mutation Database
    • Timmerman, V.1
  • 7
    • 60149083988 scopus 로고    scopus 로고
    • Molecular mechanisms of inherited demyelinating neuropathies
    • Scherer SS, Wrabetz L. Molecular mechanisms of inherited demyelinating neuropathies. Glia. 2008;56(14):1578-1589.
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    • Scherer, S.S.1    Wrabetz, L.2
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    • Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I
    • DOI 10.1038/85879
    • Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer- Grumbach M, Nicholson GA. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet. 2001;27(3):309-312. (Pubitemid 32201853)
    • (2001) Nature Genetics , vol.27 , Issue.3 , pp. 309-312
    • Dawkins, J.L.1    Hulme, D.J.2    Brahmbhatt, S.B.3    Auer-Grumbach, M.4    Nicholson, G.A.5
  • 10
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    • Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I
    • Rotthier A, et al. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Amer J Hum Genet. 2010;87(4):513-522.
    • (2010) Amer J Hum Genet , vol.87 , Issue.4 , pp. 513-522
    • Rotthier, A.1
  • 13
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    • A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity
    • Gable K, Gupta SD, Han G, Niranjanakumari S, Harmon JM, Dunn TM. A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity. J Biol Chem. 2010;285(30):22846-22852.
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  • 14
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    • Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids
    • Penno A, et al. Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem. 2010;285(15):11178- 11187.
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    • Oral l-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1
    • Garofalo K, et al. Oral l-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. J Clin Invest. 2011;121(12):4735-4745.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.