Different SPTLC1 mutations in hereditary sensory neuropathy type 1 are associated with distinct clinical phenotypes

被引：0
|
作者：
Spring, P. J.
Spies, J. M.
Dawkins, J. L.
Hulme, D.
Blair, I. P.
Kennerson, M.
Nicholson, G. A.
机构：
[1] Univ Sydney, Inst Clin Neurosci, Sydney, NSW 2006, Australia
[2] Univ Sydney, Neurobiol Lab, ANZAC Res Inst, Sydney, NSW 2006, Australia
来源：
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2007年 / 12卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：84 / 84
页数：1
相关论文
共 50 条
  • [31] Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations
    Wang Peishan
    Wei Qiao
    Li Hongfu
    Wu Zhi-Ying
    中华医学杂志英文版, 2023, 136 (02)
  • [32] Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I
    Rotthier, Annelies
    Auer-Grumbach, Michaela
    Janssens, Katrien
    Baets, Jonathan
    Penno, Anke
    Almeida-Souza, Leonardo
    Van Hoof, Kim
    Jacobs, An
    De Vriendt, Els
    Schlotter-Weigel, Beate
    Loscher, Wolfgang
    Vondracek, Petr
    Seeman, Pavel
    De Jonghe, Peter
    Van Dijck, Patrick
    Jordanova, Albena
    Hornemann, Thorsten
    Timmerman, Vincent
    AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (04) : 513 - 522
  • [33] SPTLC1 Mutations Associated with Early Onset Amyotrophic Lateral Sclerosis Impair ORMDL Regulation
    Dunn, Teresa
    Gable, Kenneth
    Gupta, Sita
    Mohassel, Payam
    Bonnemann, Carsten
    Piccus, Zoe
    Le Pichon, Claire
    Proia, Richard
    Lee, Chia-Hsueh
    FASEB JOURNAL, 2021, 35
  • [34] HSAN TYPE I CAUSED BY MUTATIONS IN SPTLC1 AND SPTLC2 IS CONSISTENTLY ASSOCIATED WITH REDUCED SPT ACTIVITY IN VITRO AND FORMATION OF DEOXYSPHINGOID BASES IN VIVO
    Janssens, K.
    Rotthier, A.
    Penno, A.
    Van Hoof, K.
    Auer-Grumbach, M.
    Hornemann, T.
    Timmerman, V
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2011, 16 : S60 - S60
  • [35] Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations
    Wang, Peishan
    Wei, Qiao
    Li, Hongfu
    Wu, Zhi-Ying
    CHINESE MEDICAL JOURNAL, 2023, 136 (02) : 176 - 183
  • [36] Hereditary motor and sensory neuropathy type 1A associated with sensorineural deafness
    Stone, J
    Moran, G
    Walls, TJ
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1998, 65 (03): : 403 - 403
  • [37] Pain in hereditary sensory autonomic neuropathy Type 1
    Shoesmith, CL
    Hahn, AF
    Moulin, DE
    Younghusband, HB
    O'Driscoll, M
    Green, RC
    Pryse-Phillips, WE
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 199 : S63 - S63
  • [38] The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment
    Fiorillo, Chiara
    Capodivento, Giovanna
    Geroldi, Alessandro
    Tozza, Stefano
    Moroni, Isabella
    Mohassel, Payam
    Cataldi, Matteo
    Campana, Chiara
    Morando, Simone
    Panicucci, Chiara
    Pedemonte, Marina
    Brolatti, Noemi
    Siliquini, Sabrina
    Traverso, Monica
    Baratto, Serena
    Debellis, Doriana
    Magri, Stefania
    Prada, Valeria
    Bellone, Emilia
    Salpietro, Vincenzo
    Donkervoort, Sandra
    Gable, Kenneth
    Gupta, Sita D.
    Dunn, Teresa M.
    Bonnemann, Carsten G.
    Taroni, Franco
    Bruno, Claudio
    Schenone, Angelo
    Mandich, Paola
    Nobbio, Lucilla
    Nolano, Maria
    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2022, 48 (07)
  • [39] MUTATIONS IN THE FLVCR1 GENE CAUSE HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2
    Chiabrando, Deborah
    Valperga, Giulio
    Altruda, Fiorella
    Silengo, Lorenzo
    Di Rocco, Maja
    Castori, Marco
    Kurth, Ingo
    Tolosano, Emanuela
    AMERICAN JOURNAL OF HEMATOLOGY, 2016, 91 (03) : E266 - E266
  • [40] SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
    Lone, Museer A.
    Aaltonen, Mari J.
    Zidell, Aliza
    Pedro, Helio F.
    Saute, Jonas A. Morales
    Mathew, Shalett
    Mohassel, Payam
    Bonnemann, Carsten G.
    Shoubridge, Eric A.
    Hornemann, Thorsten
    JOURNAL OF CLINICAL INVESTIGATION, 2022, 132 (18):
12345