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- Title
A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features.
- Authors
Sainouchi, Makoto; Hatano, Yuya; Tada, Mari; Ishihara, Tomohiko; Ando, Shoichiro; Kato, Taisuke; Tokunaga, Jun; Ito, Gaku; Miyahara, Hiroaki; Toyoshima, Yasuko; Yokoseki, Akio; Ozawa, Tetsutaro; Akazawa, Kohei; Onodera, Osamu; Kakita, Akiyoshi
- Abstract
Bar = 60 µm for a, b; 30 µm for c, d; 10 µm for e-i, l; 15 µm for j, m; 6 µm for k The neuropathologic features of this patient were indistinguishable from those of ALS without known mutations, except for the presence of annexin A11-ir NCIs, being similar to the previously reported patient with I ANXA11 i mutation (Table 2) [[6]]. Morphologically, the annexin A11-ir NCIs in this patient differed slightly from those in the previous patients with N-terminal I ANXA11 i mutation [[6]]. To the editor Mutations in the annexin A11 gene ( I ANXA11) i have been shown to cause amyotrophic lateral sclerosis (ALS) [[6]]. 2 Position of the identified ANXA11 mutation and biological characteristics of the mutant annexin A11. a Annexin A11 protein domains and the position of mutations identified in patients with amyotrophic lateral sclerosis (ALS).
- Subjects
AMYOTROPHIC lateral sclerosis; MOTOR neuron diseases; ANNEXINS; MOTOR neurons; PATIENTS' families; HUMAN genetic variation; CELL fractionation
- Publication
Acta Neuropathologica Communications, 2021, Vol 9, Issue 1, p1
- ISSN
2051-5960
- Publication type
Letter
- DOI
10.1186/s40478-021-01202-w