메뉴 건너뛰기




Volumn 29, Issue 2, 2001, Pages 160-165

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Author keywords

[No Author keywords available]

Indexed keywords

ALSIN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; GUANOSINE TRIPHOSPHATASE; PROTEIN; UNCLASSIFIED DRUG;

EID: 0034785509     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1001-160     Document Type: Article
Times cited : (680)

References (50)
  • 1
    • 0026682621 scopus 로고
    • Primary lateral sclerosis: Clinical features, neuropathology and diagnostic criteria
    • (1992) Brain , vol.115 , pp. 495-520
    • Pringle, C.E.1
  • 2
    • 0002762599 scopus 로고
    • Sclerose des cordons laeraux de la moelle epinière, chez une femme hystèrique, atteinte de contracture permanente des quatre members
    • (1965) Bull. Soc. Med. Hop. Paris , vol.2 , pp. 24-42
    • Charcot, J.M.1
  • 5
    • 0028142392 scopus 로고
    • El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis
    • (1994) J. Neurol. Sci. , vol.124 , pp. 96-107
  • 6
    • 0027480196 scopus 로고
    • Clinicopathological features of primary lateral sclerosis are different from amyotrophic lateral sclerosis
    • (1993) Brain Res. Bull. , vol.30 , pp. 359-364
    • Hudson, A.J.1
  • 12
    • 0028891994 scopus 로고
    • Familial childhood primary lateral sclerosis with associated gaze paresis
    • (1995) Neuorpediatrics , vol.26 , pp. 313-319
    • Gascon, G.G.1
  • 17
    • 12044249765 scopus 로고
    • Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity
    • (1991) New Engl. J. Med. , vol.324 , pp. 1381-1384
    • Siddique, T.1
  • 18
    • 0028334717 scopus 로고
    • Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q 35
    • (1994) Nature Genet. , vol.7 , pp. 425-428
    • Hentati, A.1
  • 19
    • 0032414948 scopus 로고    scopus 로고
    • Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15ql5-q 22 markers
    • (1998) Neurogenetics , vol.2 , pp. 55-60
    • Hentati, A.1
  • 20
    • 0031959591 scopus 로고    scopus 로고
    • Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 633-640
    • Chance, P.F.1
  • 21
    • 0027401203 scopus 로고
    • Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    • (1993) Nature , vol.362 , pp. 59-62
    • Rosen, D.R.1
  • 22
    • 0027426169 scopus 로고
    • Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase
    • (1993) Science , vol.261 , pp. 1047-1051
    • Deng, H.-X.1
  • 28
    • 0026532193 scopus 로고
    • Chromosome-band-specific painting: Chromosome in situ suppression hybridization using PCR products from a microdissected chromosome band as a probe pool
    • (1992) Hum. Genet. , vol.89 , pp. 13-17
    • Deng, H.X.1
  • 33
    • 0033636778 scopus 로고    scopus 로고
    • Junctophilins: A novel family of junctional membrane complex proteins
    • (2000) Mol. Cell. , vol.6 , pp. 11-22
    • Takeshima, H.1
  • 36
    • 8944241311 scopus 로고    scopus 로고
    • Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1035-1041
    • Roepman, R.1
  • 37
    • 0032584734 scopus 로고    scopus 로고
    • Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)
    • (1998) J. Biol. Chem. , vol.273 , pp. 19656-19663
    • Yan, D.1
  • 38
    • 0030787047 scopus 로고    scopus 로고
    • A giant protein that stimulates guanine nucleotide exchange on ARF1 and Rab proteins forms a cytosolic ternary complex with clathrin and Hsp70
    • (1997) Oncogene , vol.15 , pp. 1-6
    • Rosa, J.L.1    Casaroli-Marano, R.P.2
  • 41
    • 0034972973 scopus 로고    scopus 로고
    • A conserved sorting-associated protein is mutant in choreaacanthocytosis
    • (2001) Nature Genet. , vol.28 , pp. 119-120
    • Rampoldi, L.1
  • 43
    • 0028284779 scopus 로고
    • Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation
    • (1994) Science , vol.264 , pp. 1172-1175
    • Gurney, M.E.1
  • 44
    • 0031728550 scopus 로고    scopus 로고
    • SOD1 aggregates in ALS: Cause, correlate or consequence?
    • (1998) Nature Med. , vol.4 , pp. 1362-1364
    • Brown, R.H.1
  • 45
    • 0033231494 scopus 로고    scopus 로고
    • From Charcot to SOD1: Mechanisms of selective motor neuron death in ALS
    • (1999) Neuron , vol.24 , pp. 515-520
    • Cleveland, D.W.1
  • 48
    • 0028299654 scopus 로고
    • Similar levels of mRNA from the W1282X and the DeltaF508 cystic fibrosis alleles, in nasal epithelial cells
    • (1994) J. Clin. Invest. , vol.93 , pp. 1502-1507
    • Shoshani, T.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.