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

• Pringle, C.E. et al. Primary lateral sclerosis: clinical features, neuropathology and diagnostic criteria. Brain 115, 495–520 (1992).
  Article Google Scholar
• Charcot, J.M. Sclerose des cordons laeraux de la moelle epinière, chez une femme hystèrique, atteinte de contracture permanente des quatre members. Bull. Soc. Med. Hop. Paris 2, 24–42 (1965).
  Google Scholar
• Erb, W.A. Über einen wenig bekannten spinalen symptomenkomplex. Berl. Klin. Wochenschr 12, 357–359 (1975).
  Google Scholar
• Stark, F.M. & Moersch, F.P. Primary lateral sclerosis. J. Nerv. Ment. Dis. 102, 332–352 (1945).
  Article Google Scholar
• El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. J. Neurol. Sci. 124, 96–107 (1994).
• Hudson, A.J. et al. Clinicopathological features of primary lateral sclerosis are different from amyotrophic lateral sclerosis. Brain Res. Bull. 30, 359–364 (1993).
  Article CAS Google Scholar
• Beal, M.F. & Richardson, E.P. Primary lateral sclerosis: a case report. Arch. Neurol. 38, 630–633 (1981).
  Article CAS Google Scholar
• Fisher, C.M. Pure spastic paralysis of corticospinal origin. Can. J. Neuro. Sci. 4, 251–258 (1977).
  Article CAS Google Scholar
• Russo, L.S. Jr. Clinical and electrophysiological studies in primary lateral sclerosis. Arch. Neurol. 39, 662–664 (1982).
  Article Google Scholar
• Sotaniemi, K.A. & Myllylla, V.V. Primary lateral sclerosis, a debated entity. Acta Neurol. Scand. 71, 334–336 (1985).
  Article CAS Google Scholar
• Younger, D.S. et al. Primary lateral sclerosis: a clinical diagnosis reemerges. Arch. Neurol. 45, 1304–1307 (1988).
  Article CAS Google Scholar
• Gascon, G.G. et al. Familial childhood primary lateral sclerosis with associated gaze paresis. Neuorpediatrics 26, 313–319 (1995).
  Article CAS Google Scholar
• Heene, R., Kolander, D. & Knisatschek, H. Die chronisch-progrediente spinobulbäre spastik (primare lateralsklerose). Fortschr. Neurol. Psychiat. 64, 192–203 (1996).
  Article CAS Google Scholar
• Brown, W.F., Ebers, G.C., Hudson, A.J., Pringle, C.E. & Veitch, J. Motor evoked responses in primary lateral sclerosis. Muscle Nerve 15, 626–629 (1992).
  Article CAS Google Scholar
• Grunnet, M.L., Leicher, C., Zimmerman, A., Zalneraitis, E. & Barwick, M. Primary lateral sclerosis in a child. Neurology 39, 1530–1532 (1989).
  Article CAS Google Scholar
• Lerman-Sagie, T., Filliano, J., Smith, D.W. & Korson, M. Infantile onset of hereditary ascending spastic paralysis with bulbar involvement. J. Child. Neurol. 11, 54–57 (1996).
  Article CAS Google Scholar
• Siddique, T. et al. Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. New Engl. J. Med. 324, 1381–1384 (1991).
  Article CAS Google Scholar
• Hentati, A. et al. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35. Nature Genet. 7, 425–428 (1994).
  Article CAS Google Scholar
• Hentati, A. et al. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics 2, 55–60 (1998).
  Article CAS Google Scholar
• Chance, P. F. et al. Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am. J. Hum. Genet. 62, 633–640 (1998).
  Article CAS Google Scholar
• Rosen, D. R. et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362, 59–62 (1993).
  Article CAS Google Scholar
• Deng, H.-X. et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science 261, 1047–1051 (1993).
  Article CAS Google Scholar
• Ben Hamida, M., Hentati, F. & Ben Hamida, C. Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Brain 113, 347–363 (1990).
  Article Google Scholar
• Cottingham, R.W. Jr, Idury, R.M. & Schaffer, A.A. Faster sequential genetic linkage computations. Am. J. Hum. Genet. 53, 252–263 (1993).
  Google Scholar
• Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. Natl Acad. Sci. USA 81, 3443–3446 (1984).
  Article CAS Google Scholar
• Schaffer, A.A., Gupta, S.K., Shriram, K. & Cottingham, R.W. Jr. Avoiding recomputation in linkage analysis. Hum. Hered. 44, 225–237 (1994).
  Article CAS Google Scholar
• Ott, J. Analysis of Human Genetic Linkage revised edition 194–216 (Johns Hopkins University, Baltimore, 1991).
  Google Scholar
• Deng, H.X. et al. Chromosome-band-specific painting: chromosome in situ suppression hybridization using PCR products from a microdissected chromosome band as a probe pool. Hum. Genet. 89, 13–17 (1992).
  Article CAS Google Scholar
• Sonnhammer, E.L.L., Eddy, S.R., Birney, E., Bateman, A. & Durbin, R. Pfam: multiple sequence alignments and HMM-profiles of protein domains. Nucleic Acids Res. 26, 320–322 (1998).
  Article CAS Google Scholar
• Delcher, A.L. Alignment of whole genomes. Nucleic Acids Res. 27, 2369–2376 (1999).
  Article CAS Google Scholar
• Schultz, J., Milpetz, F., Bork, P. & Ponting, C.P. SMART: identification and annotation of domains from signalling and extracellular protein sequences. Nucleic Acids Res. 27, 229–232 (1999).
  Article Google Scholar
• Lemmon, M.A. and Ferguson, K.M. Signal-dependent membrane targeting by pleckstrin homology (PH) domains. Biochem. J. 350, Pt 1: 1–18 (2000).
  Article CAS Google Scholar
• Takeshima, H. et al. Junctophilins: a novel family of junctional membrane complex proteins. Mol. Cell. 6, 11–22 (2000).
  CAS Google Scholar
• Lehman, A. et al. A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice. Proc. Natl Acad. Sci. USA 95, 9436–9441 (1998).
  Article CAS Google Scholar
• Kahana, J.A. & Cleveland, D.W. Some importin news about spindle assembly. Science 291, 1718–1719 (2001).
  Article CAS Google Scholar
• Roepman, R. et al. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum. Mol. Genet. 5, 1035–1041 (1996).
  Article CAS Google Scholar
• Yan, D. et al. Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr). J. Biol. Chem. 273, 19656–19663 (1998).
  Article CAS Google Scholar
• Rosa, J.L. & Casaroli-Marano, R.P. A giant protein that stimulates guanine nucleotide exchange on ARF1 and Rab proteins forms a cytosolic ternary complex with clathrin and Hsp70. Oncogene 15, 1–6 (1997).
  Article CAS Google Scholar
• Bar-Sagi, D. & Hall, A. Ras and Rho GTPases: a family reunion. Cell 103, 227–238 (2000).
  Article CAS Google Scholar
• Hama, H., Tall, G.G. & Horazdovsky, B.F. Vps9p is a guanine nucleotide exchange factor involved in vesicle-mediated vacuolar protein transport. J. Biol. Chem. 274, 15284–15291 (1999).
  Article CAS Google Scholar
• Rampoldi, L. et al. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nature Genet. 28, 119–120 (2001).
  Article CAS Google Scholar
• Mourelatos, Z., Gonatas, N.K., Stieber, A., Gurney, M.E. & Dal Canto, M.C. The Golgi apparatus of spinal cord motor neurons in transgenic mice expressing mutant Cu,Zn superoxide dismutase becomes fragmented in early, preclinical stages of the disease. Proc. Natl Acad. Sci. USA 93, 5472–5477 (1996).
  Article CAS Google Scholar
• Gurney, M.E. et al. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science 264, 1172–1175 (1994).
  Article Google Scholar
• Brown, R.H. SOD1 aggregates in ALS: cause, correlate or consequence? Nature Med. 4, 1362–1364 (1998).
  Article CAS Google Scholar
• Cleveland, D.W. From Charcot to SOD1: mechanisms of selective motor neuron death in ALS. Neuron 24, 515–520 (1999).
  Article CAS Google Scholar
• Deng, H.X. and Siddique, T. Transgenic mouse models and human neurodegenerative disorders. Arch. Neurol. 57, 1695–1702 (2000).
  Article CAS Google Scholar
• Atawater, J.A., Wisdom, R. & Verma, I.M. Regulated mRNA stability. Annu. Rev. Genet. 24, 519–541 (1990).
  Article Google Scholar
• Shoshani, T. et al. Similar levels of mRNA from the W1282X and the DeltaF508 cystic fibrosis alleles, in nasal epithelial cells. J. Clin. Invest. 93, 1502–1507 (1994).
  Article CAS Google Scholar
• Haardt, M., Benharourga, M., Lechardeur, D., Kartner, N. & Lukacs, L. C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. J. Biol. Chem. 274, 21873–21877 (1999).
  Article CAS Google Scholar
• Dunnen, J.T. & Antonarakis, S.E. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Human Mutat. 15, 7–12 (2000).
  Article Google Scholar