메뉴 건너뛰기




Volumn 19, Issue 7, 2012, Pages 927-933

TRPV4 axonal neuropathy spectrum disorder

Author keywords

Axonal neuropathy; Skeletal dysplasia; TRPV4; Vocal cord paralysis

Indexed keywords

SNARE PROTEIN;

EID: 84862227976     PISSN: 09675868     EISSN: 15322653     Source Type: Journal    
DOI: 10.1016/j.jocn.2011.12.003     Document Type: Review
Times cited : (33)

References (43)
  • 1
    • 0002896804 scopus 로고
    • Sure une forme particulière d'atrophie musculaire progressive souvent familiale debutant par les pieds et les jambs et atteignant plus tard les mains
    • J. Charcot, and P. Marie Sure une forme particulière d'atrophie musculaire progressive souvent familiale debutant par les pieds et les jambs et atteignant plus tard les mains Rev Med (Paris) 6 1886 97 138
    • (1886) Rev Med (Paris) , vol.6 , pp. 97-138
    • Charcot, J.1    Marie, P.2
  • 3
    • 0022394535 scopus 로고
    • A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis
    • P. Fleury, and G. Hageman A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis J Neurol Neurosurg Psychiatry 48 1985 1037 1048 (Pubitemid 16235990)
    • (1985) Journal of Neurology Neurosurgery and Psychiatry , vol.48 , Issue.10 , pp. 1037-1048
    • Fleury, P.1    Hageman, G.2
  • 4
    • 0026733132 scopus 로고
    • A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features
    • R. DeLong, and T. Siddique A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features Arch Neurol 49 1992 905 908
    • (1992) Arch Neurol , vol.49 , pp. 905-908
    • Delong, R.1    Siddique, T.2
  • 9
    • 75749129360 scopus 로고    scopus 로고
    • Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
    • M. Auer-Grumbach, A. Olschewski, and L. Papić Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C Nat Genet 42 2010 160 164
    • (2010) Nat Genet , vol.42 , pp. 160-164
    • Auer-Grumbach, M.1    Olschewski, A.2    Papić, L.3
  • 10
    • 75749083221 scopus 로고    scopus 로고
    • Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
    • H.X. Deng, C.J. Klein, and J. Yan Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4 Nat Genet 42 2010 165 169
    • (2010) Nat Genet , vol.42 , pp. 165-169
    • Deng, H.X.1    Klein, C.J.2    Yan, J.3
  • 11
    • 75749139617 scopus 로고    scopus 로고
    • Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
    • G. Landouré, A.A. Zdebik, and T.L. Martinez Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C Nat Genet 42 2010 170 174
    • (2010) Nat Genet , vol.42 , pp. 170-174
    • Landouré, G.1    Zdebik, A.A.2    Martinez, T.L.3
  • 12
    • 48349103354 scopus 로고    scopus 로고
    • Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
    • M.J. Rock, J. Prenen, and V.A. Funari Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia Nat Genet 40 2008 999 1003
    • (2008) Nat Genet , vol.40 , pp. 999-1003
    • Rock, M.J.1    Prenen, J.2    Funari, V.A.3
  • 13
    • 77955006540 scopus 로고    scopus 로고
    • TRPV4-pathy, a novel channelopathy affecting diverse systems
    • J. Dai, T.J. Cho, and S. Unger TRPV4-pathy, a novel channelopathy affecting diverse systems J Hum Genet 55 2010 400 402
    • (2010) J Hum Genet , vol.55 , pp. 400-402
    • Dai, J.1    Cho, T.J.2    Unger, S.3
  • 14
    • 0032764295 scopus 로고    scopus 로고
    • Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy
    • DOI 10.1007/s004150050402
    • M. Donaghy, and R. Kennett Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy J Neurol 246 1999 552 555 (Pubitemid 29376279)
    • (1999) Journal of Neurology , vol.246 , Issue.7 , pp. 552-555
    • Donaghy, M.1    Kennett, R.2
  • 16
    • 77952959682 scopus 로고    scopus 로고
    • Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies
    • M. Zimoń, J. Baets, and M. Auer-Grumbach Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies Brain 133 2010 1798 1809
    • (2010) Brain , vol.133 , pp. 1798-1809
    • Zimoń, M.1    Baets, J.2    Auer-Grumbach, M.3
  • 17
    • 0024509068 scopus 로고
    • Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: A dominant form of spinal muscular atrophy
    • E. Boltshauser, W. Lang, and T. Spillmann Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy? J Med Genet 26 1989 105 108 (Pubitemid 19047360)
    • (1989) Journal of Medical Genetics , vol.26 , Issue.2 , pp. 105-108
    • Boltshauser, E.1    Lang, W.2    Spillmann, T.3    Hof, E.4
  • 18
    • 79961029339 scopus 로고    scopus 로고
    • Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation
    • J. Berciano, J. Baets, and E. Gallardo Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation J Neurol 258 2011 1413 1421
    • (2011) J Neurol , vol.258 , pp. 1413-1421
    • Berciano, J.1    Baets, J.2    Gallardo, E.3
  • 19
    • 81955165141 scopus 로고    scopus 로고
    • Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder
    • S. Aharoni, G. Harlalka, and A. Offiah Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder Am J Med Genet A 155A 2011 3153 3156
    • (2011) Am J Med Genet A , vol.155 A , pp. 3153-3156
    • Aharoni, S.1    Harlalka, G.2    Offiah, A.3
  • 20
    • 78650003058 scopus 로고    scopus 로고
    • CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene
    • D.H. Chen, Y. Sul, and M. Weiss CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene Neurology 75 2010 1968 1975
    • (2010) Neurology , vol.75 , pp. 1968-1975
    • Chen, D.H.1    Sul, Y.2    Weiss, M.3
  • 21
    • 80054898540 scopus 로고    scopus 로고
    • Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
    • S. Unger, E. Lausch, and F. Stanzial Fetal akinesia in metatropic dysplasia: the combined phenotype of chondrodysplasia and neuropathy? Am J Med Genet A 155 2011 2860 2864
    • (2011) Am J Med Genet A , vol.155 , pp. 2860-2864
    • Unger, S.1    Lausch, E.2    Stanzial, F.3
  • 22
    • 77952748007 scopus 로고    scopus 로고
    • Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
    • J. Dai, O.H. Kim, and T.J. Cho Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family J Med Genet 47 2010 704 709
    • (2010) J Med Genet , vol.47 , pp. 704-709
    • Dai, J.1    Kim, O.H.2    Cho, T.J.3
  • 23
    • 80054985573 scopus 로고    scopus 로고
    • Mutations in TRPV4 cause an inherited arthropathy of hands and feet
    • S.R. Lamandé, Y. Yuan, and I.L. Gresshoff Mutations in TRPV4 cause an inherited arthropathy of hands and feet Nat Genet 43 2011 1142 1146
    • (2011) Nat Genet , vol.43 , pp. 1142-1146
    • Lamandé, S.R.1    Yuan, Y.2    Gresshoff, I.L.3
  • 25
    • 77955305225 scopus 로고    scopus 로고
    • The vanilloid transient receptor potential channel TRPV4: From structure to disease
    • W. Everaerts, B. Nilius, and G. Owsianik The vanilloid transient receptor potential channel TRPV4: from structure to disease Prog Biophys Mol Biol 103 2010 2 17
    • (2010) Prog Biophys Mol Biol , vol.103 , pp. 2-17
    • Everaerts, W.1    Nilius, B.2    Owsianik, G.3
  • 26
    • 79952904426 scopus 로고    scopus 로고
    • TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies
    • C.J. Klein, Y. Shi, and F. Fecto TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies Neurology 76 2011 887 894
    • (2011) Neurology , vol.76 , pp. 887-894
    • Klein, C.J.1    Shi, Y.2    Fecto, F.3
  • 29
    • 55749093730 scopus 로고    scopus 로고
    • Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy
    • T. Sevilla, T. Jaijo, and D. Nauffal Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy Brain 131 2008 3051 3061
    • (2008) Brain , vol.131 , pp. 3051-3061
    • Sevilla, T.1    Jaijo, T.2    Nauffal, D.3
  • 30
    • 55549100969 scopus 로고    scopus 로고
    • Refinement of the locus for distal hereditary motor neuronopathy VII (dHMN-VII) and exclusion of candidate genes
    • K.J. Dick, M. McEntagart, and W. Alwan Refinement of the locus for distal hereditary motor neuronopathy VII (dHMN-VII) and exclusion of candidate genes Genome 51 2008 959 962
    • (2008) Genome , vol.51 , pp. 959-962
    • Dick, K.J.1    McEntagart, M.2    Alwan, W.3
  • 31
    • 77149125545 scopus 로고    scopus 로고
    • A quantitative analysis of the spatiotemporal pattern of transient receptor potential gene expression in the developing mouse cochlea
    • Y. Asai, J.R. Holt, and G.S. Géléoc A quantitative analysis of the spatiotemporal pattern of transient receptor potential gene expression in the developing mouse cochlea J Assoc Res Otolaryngol 11 2010 27 37
    • (2010) J Assoc Res Otolaryngol , vol.11 , pp. 27-37
    • Asai, Y.1    Holt, J.R.2    Géléoc, G.S.3
  • 32
    • 19544365924 scopus 로고    scopus 로고
    • Hearing impairment in TRPV4 knockout mice
    • DOI 10.1016/j.neulet.2005.03.035, PII S0304394005003307
    • K. Tabuchi, M. Suzuki, and A. Mizuno Hearing impairment in TRPV4 knockout mice Neurosci Lett 382 2005 304 308 (Pubitemid 40733641)
    • (2005) Neuroscience Letters , vol.382 , Issue.3 , pp. 304-308
    • Tabuchi, K.1    Suzuki, M.2    Mizuno, A.3    Hara, A.4
  • 36
    • 79955758732 scopus 로고    scopus 로고
    • Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies
    • F. Fecto, Y. Shi, and R. Huda Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies J Biol Chem 286 2011 17281 17291
    • (2011) J Biol Chem , vol.286 , pp. 17281-17291
    • Fecto, F.1    Shi, Y.2    Huda, R.3
  • 37
    • 79955790491 scopus 로고    scopus 로고
    • Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations
    • S. Loukin, Z. Su, and C. Kung Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations PLoS ONE 6 2011 e19533
    • (2011) PLoS ONE , vol.6 , pp. 19533
    • Loukin, S.1    Su, Z.2    Kung, C.3
  • 38
    • 50049122815 scopus 로고    scopus 로고
    • TRPV4-mediated calcium influx regulates terminal differentiation of osteoclasts
    • R. Masuyama, J. Vriens, and T. Voets TRPV4-mediated calcium influx regulates terminal differentiation of osteoclasts Cell Metab 8 2008 257 265
    • (2008) Cell Metab , vol.8 , pp. 257-265
    • Masuyama, R.1    Vriens, J.2    Voets, T.3
  • 39
    • 42349109026 scopus 로고    scopus 로고
    • A primer on ankyrin repeat function in TRP channels and beyond
    • DOI 10.1039/b801481g
    • R. Gaudet A primer on ankyrin repeat function in TRP channels and beyond Mol Biosyst 4 2008 372 379 (Pubitemid 351552007)
    • (2008) Molecular BioSystems , vol.4 , Issue.5 , pp. 372-379
    • Gaudet, R.1
  • 40
    • 77955667713 scopus 로고    scopus 로고
    • Atomic force microscopy reveals the alternating subunit arrangement of the TRPP2-TRPV4 heterotetramer
    • A.P. Stewart, G.D. Smith, and R.N. Sandford Atomic force microscopy reveals the alternating subunit arrangement of the TRPP2-TRPV4 heterotetramer Biophys J 99 2010 790 797
    • (2010) Biophys J , vol.99 , pp. 790-797
    • Stewart, A.P.1    Smith, G.D.2    Sandford, R.N.3
  • 41
    • 80052532253 scopus 로고    scopus 로고
    • Electrophysiological properties of heteromeric TRPV4-C1 channels
    • X. Ma, B. Nilius, and J.W. Wong Electrophysiological properties of heteromeric TRPV4-C1 channels Biochim Biophys Acta 1808 2011 2789 2797
    • (2011) Biochim Biophys Acta , vol.1808 , pp. 2789-2797
    • Ma, X.1    Nilius, B.2    Wong, J.W.3
  • 42
    • 77955379568 scopus 로고    scopus 로고
    • Importance of non-selective cation channel TRPV4 interaction with cytoskeleton and their reciprocal regulations in cultured cells
    • C. Goswami, J. Kuhn, and P.A. Heppenstall Importance of non-selective cation channel TRPV4 interaction with cytoskeleton and their reciprocal regulations in cultured cells PLoS ONE 5 2010 e11654
    • (2010) PLoS ONE , vol.5 , pp. 11654
    • Goswami, C.1    Kuhn, J.2    Heppenstall, P.A.3
  • 43
    • 79952930269 scopus 로고    scopus 로고
    • TRPV4 neuropathies: Calcium channel inhibition as a therapeutic target?
    • J. Baets, and P. De Jonghe TRPV4 neuropathies: calcium channel inhibition as a therapeutic target? Neurology 76 2011 856 857
    • (2011) Neurology , vol.76 , pp. 856-857
    • Baets, J.1    De Jonghe, P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.