메뉴 건너뛰기




Volumn 16, Issue 11, 2008, Pages 1407-1411

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: The first cases from northwestern Europe

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR ALS2; UNCLASSIFIED DRUG;

EID: 54549100254     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.108     Document Type: Article
Times cited : (26)

References (17)
  • 1
    • 0034785483 scopus 로고    scopus 로고
    • A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
    • Hadano S, Hand CK, Osuga H et al: A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001; 29: 166-173.
    • (2001) Nat Genet , vol.29 , pp. 166-173
    • Hadano, S.1    Hand, C.K.2    Osuga, H.3
  • 2
    • 0034785509 scopus 로고    scopus 로고
    • The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
    • Yang Y, Hentati A, Deng HX et al: The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001; 29: 160-165.
    • (2001) Nat Genet , vol.29 , pp. 160-165
    • Yang, Y.1    Hentati, A.2    Deng, H.X.3
  • 3
    • 0036724052 scopus 로고    scopus 로고
    • Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
    • Eymard-Pierre E, Lesca G, Dollet S et al: Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet 2002; 71: 518-527.
    • (2002) Am J Hum Genet , vol.71 , pp. 518-527
    • Eymard-Pierre, E.1    Lesca, G.2    Dollet, S.3
  • 4
    • 0037234133 scopus 로고    scopus 로고
    • An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred
    • Gros-Louis F, Meijer IA, Hand CK et al: An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. Ann Neurol 2003; 53: 144-145.
    • (2003) Ann Neurol , vol.53 , pp. 144-145
    • Gros-Louis, F.1    Meijer, I.A.2    Hand, C.K.3
  • 5
    • 0026682621 scopus 로고
    • Primary lateral sclerosis, clinical features, neuropathology and diagnostic criteria
    • Pringle CE, Hudson AJ, Munoz DG et al: Primary lateral sclerosis, clinical features, neuropathology and diagnostic criteria. Brain 1992; 115: 495-520.
    • (1992) Brain , vol.115 , pp. 495-520
    • Pringle, C.E.1    Hudson, A.J.2    Munoz, D.G.3
  • 6
    • 0037465372 scopus 로고    scopus 로고
    • Infantile ascendine hereditary spastic paralysis (IAHSP): Clinical features in 11 families
    • Lesca G, Eymard-Pierre E, Santorelli FM et al: Infantile ascendine hereditary spastic paralysis (IAHSP): Clinical features in 11 families. Neurology 2003; 60: 674-682.
    • (2003) Neurology , vol.60 , pp. 674-682
    • Lesca, G.1    Eymard-Pierre, E.2    Santorelli, F.M.3
  • 7
    • 17044457419 scopus 로고
    • Isolation and characterization of the active cDNA of the human cell cycle gene (RCC1) involved in the regulation of onset of chromosome condensation
    • Ohtsubo M, Kai R, Furuno N et al: Isolation and characterization of the active cDNA of the human cell cycle gene (RCC1) involved in the regulation of onset of chromosome condensation. Genes Dev 1987; 1: 585-593.
    • (1987) Genes Dev , vol.1 , pp. 585-593
    • Ohtsubo, M.1    Kai, R.2    Furuno, N.3
  • 8
    • 0036644975 scopus 로고    scopus 로고
    • Guanine nucleotide exchange factors for Rho GTPases: Turning on the switch
    • Schmidt A, Hall A: Guanine nucleotide exchange factors for Rho GTPases: turning on the switch. Genes Dev 2002; 16: 1587-1609.
    • (2002) Genes Dev , vol.16 , pp. 1587-1609
    • Schmidt, A.1    Hall, A.2
  • 9
    • 0041308082 scopus 로고    scopus 로고
    • ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics
    • Otomo A, Hadano S, Okada T et al: ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. Hum Mol Genet 2003; 12: 1671-1687.
    • (2003) Hum Mol Genet , vol.12 , pp. 1671-1687
    • Otomo, A.1    Hadano, S.2    Okada, T.3
  • 10
    • 33744816471 scopus 로고    scopus 로고
    • Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis
    • Eymard-Pierre E, Yamanaka K, Haeussler M et al: Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis. Ann Neurol 2006; 59: 976-980.
    • (2006) Ann Neurol , vol.59 , pp. 976-980
    • Eymard-Pierre, E.1    Yamanaka, K.2    Haeussler, M.3
  • 11
    • 27644488582 scopus 로고    scopus 로고
    • Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis
    • Kress JA, Kühnlein P, Winter P et al: Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis. Ann Neurol 2005; 58: 800-803.
    • (2005) Ann Neurol , vol.58 , pp. 800-803
    • Kress, J.A.1    Kühnlein, P.2    Winter, P.3
  • 12
    • 33745713871 scopus 로고    scopus 로고
    • The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function
    • Panzeri C, De Palma C, Martinuzzi A et al: The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. Brain 2006; 129: 1710-1719.
    • (2006) Brain , vol.129 , pp. 1710-1719
    • Panzeri, C.1    De Palma, C.2    Martinuzzi, A.3
  • 13
    • 0042914405 scopus 로고    scopus 로고
    • The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings
    • Devon RS, Helm JR, Rouleau GA et al: The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. Clin Genet 2003; 64: 210-215.
    • (2003) Clin Genet , vol.64 , pp. 210-215
    • Devon, R.S.1    Helm, J.R.2    Rouleau, G.A.3
  • 14
    • 34547421785 scopus 로고    scopus 로고
    • Molecular and cellular function of ALS2/alsin: Implication of membrane dynamics in neuronal development and degeneration
    • Hadano S, Kunita R, Otomo A et al: Molecular and cellular function of ALS2/alsin: Implication of membrane dynamics in neuronal development and degeneration. Neurochem Int 2007; 51: 74-84.
    • (2007) Neurochem Int , vol.51 , pp. 74-84
    • Hadano, S.1    Kunita, R.2    Otomo, A.3
  • 15
    • 2642536202 scopus 로고    scopus 로고
    • Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor
    • Topp J, Gray NW, Gerard RD et al: Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor. J Biol Chem 2004; 23: 24612-24623.
    • (2004) J Biol Chem , vol.23 , pp. 24612-24623
    • Topp, J.1    Gray, N.W.2    Gerard, R.D.3
  • 16
    • 20144379753 scopus 로고    scopus 로고
    • Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood
    • Devon RS, Schwab C, Topp JD et al: Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood. Neurobiol Dis 2005; 18: 243-257.
    • (2005) Neurobiol Dis , vol.18 , pp. 243-257
    • Devon, R.S.1    Schwab, C.2    Topp, J.D.3
  • 17
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations
    • The Nomenclature Working Group
    • Antonarakis SE, The Nomenclature Working Group: Recommendations for a nomenclature system for human gene mutations. Hum Mut 1998; 11 1-3.
    • (1998) Hum Mut , vol.11 , pp. 1-3
    • Antonarakis, S.E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.