TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis

References

• Mitchell JD, Borasio GD. Amyotrophic lateral sclerosis. Lancet. 2007; 369: 2031–41
   PubMed Web of Science ®Google Scholar
• Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006; 314: 130–3
   PubMed Web of Science ®Google Scholar
• Nishihira Y, Tan C-F, Onodera O, Toyoshima Y, Yamada M, Morita T, et al. Sporadic amyotrophic lateral sclerosis: two pathological patterns shown by analysis of distribution of TDP-43-immunoreactive neuronal and glial cytoplasmic inclusions. Acta Neuropathol. 2008; 116: 169–82
   PubMed Web of Science ®Google Scholar
• Davidson Y, Kelley T, Mackenzie IR, Pickering-Brown S, Du Plessis D, Neary D, et al. Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43. Acta Neuropathol. 2007; 113: 521–33
   PubMed Web of Science ®Google Scholar
• Winton MJ, Igaz LM, Wong MM, Kwong LK, Trojanowski JQ, Lee VM. Disturbance of nuclear and cytoplasmic TAR DNA-binding protein (TDP-43) induces disease-like redistribution, sequestration, and aggregate formation. J Biol Chem. 2008; 283: 13302–9
   PubMed Web of Science ®Google Scholar
• van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, et al. TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol. 2008; 7: 409–16
   PubMed Web of Science ®Google Scholar
• Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science. 2008; 319: 1668–72
   PubMed Web of Science ®Google Scholar
• Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, van de Velde C, et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet. 2008; 40: 572–4
   PubMed Web of Science ®Google Scholar
• Yokoseki A, Shiga A, Tan CF, Tagawa A, Kaneko H, Koyama A, et al. TDP-43 mutations in familial amyotrophic lateral sclerosis. Ann Neurol. 2008; 63: 538–42
   PubMed Web of Science ®Google Scholar
• Buratti E, Baralle FE. Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9. J Biol Chem. 2001; 276: 36337–43
   PubMed Web of Science ®Google Scholar
• Vielhaber S, Kunz D, Winkler K, Wiedemann FR, Kirches E, Feistner H, et al. Mitochondrial DNA abnormalities in skeletal muscle of patients with sporadic amyotrophic lateral sclerosis. Brain. 2000; 123: 1339–48
   PubMed Web of Science ®Google Scholar
• Soraru' G, Vergani L, Fedrizzi L, D'Ascenzo C, Polo A, Bernazzi B, et al. Activities of mitochondrial complexes correlate with nNOS amount in muscle from ALS patients. Neuropathol Appl Neurobiol. 2007; 33: 204–11
   PubMed Web of Science ®Google Scholar
• Weihl C, Temiz PP, Miller S, Watts G, Smith C, Forman M, et al. TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia. J Neurol Neurosurg Psychiatry. 2008; 79: 1186–9
   PubMed Web of Science ®Google Scholar
• Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000; 1: 293–9
   PubMed Web of Science ®Google Scholar
• Dickson DW, Josephs KA, Amador-Ortiz C. TDP-43 in differential diagnosis of motor neuron disorders. Acta Neuropathol. 2007; 114: 71–9
   PubMed Web of Science ®Google Scholar
• Zhang YJ, Xu Y, Dickey CA, Baralle F, Bailey R, Pickering-Brown S, et al. Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43. J Neurosci. 2007; 27: 10530–4
   PubMed Web of Science ®Google Scholar
• Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, et al. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet. 2006; 15: 2988–3001
   PubMed Web of Science ®Google Scholar
• Steinacker P, Hendrich C, Sperfeld AD, Jesse S, von Arnim CA, Lehnert S, et al. TDP-43 in cerebrospinal fluid of patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Arch Neurol. 2008; 65: 1481–7
   PubMed Web of Science ®Google Scholar
• Uryu K, Nakashima-Yasuda H, Forman MS, Forman MS, Kwong LK, Clark CM, et al. Concomitant TAR-DNA-binding protein 43 is present in Alzheimer's disease and cortical-basal degeneration but not in other tauopathies. Neuropathol Exp Neurol. 2008; 67: 555–64
   PubMed Web of Science ®Google Scholar