Ataxie mit okulomotorischer Apraxie Typ 2: Charakterisierung des ...
Ataxie mit okulomotorischer Apraxie Typ 2: Charakterisierung des ...
Ataxie mit okulomotorischer Apraxie Typ 2: Charakterisierung des ...
Erfolgreiche ePaper selbst erstellen
Machen Sie aus Ihren PDF Publikationen ein blätterbares Flipbook mit unserer einzigartigen Google optimierten e-Paper Software.
Literaturverzeichnis 72<br />
19 Airoldi G, Guidarelli A, Cantoni O, Panzeri C, Vantaggiato C, Bonato S, et al.<br />
Characterization of two novel SETX mutations in AOA2 patients reveals aspects of<br />
the pathophysiological role of senataxin. Neurogenetics. 2009.<br />
20 Fogel BL, Lee JY, Perlman S. Aberrant Splicing of the Senataxin Gene in a Patient<br />
with Ataxia with Oculomotor Apraxia <strong>Typ</strong>e 2. Cerebellum. 2009.<br />
21 Haack T, Friday D, Bender A, Rolfs A, Klopstock T. Ataxia oculomotor apraxia<br />
type 2: course over 27 years and a novel stop mutation in the senataxin gene. J<br />
Neurol. 2009; 256: 1555-7.<br />
22 Nakamura K, Yoshida K, Makishita H, Kitamura E, Hashimoto S, Ikeda S. A novel<br />
nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2<br />
(AOA2). J Hum Genet. 2009; 54: 746-8.<br />
23 Zhao ZH, Chen WZ, Wu ZY, Wang N, Zhao GX, Chen WJ, et al. A novel mutation<br />
in the senataxin gene identified in a Chinese patient with sporadic amyotrophic<br />
lateral sclerosis. Amyotroph Lateral Scler. 2009; 10: 118-22.<br />
24 Ursic D, Himmel KL, Gurley KA, Webb F, Culbertson MR. The yeast SEN1 gene<br />
is required for the processing of diverse RNA classes. Nucleic Acids Res. 1997; 25:<br />
4778-85.<br />
25 Chen YZ, Hashemi SH, Anderson SK, Huang Y, Moreira MC, Lynch DR, et al.<br />
Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in<br />
which recessive mutations cause ataxia and dominant mutations cause motor<br />
neuron disease. Neurobiol Dis. 2006; 23: 97-108.<br />
26 Gorbalenya AE, Koonin EV. Helicases: amino acid sequence comparisons and<br />
structure-function relationships. Current Opinion in Structural Biology. 1993; 3:<br />
419-29.<br />
27 Wang W, Czaplinski K, Rao Y, Peltz SW. The role of Upf proteins in modulating<br />
the translation read-through of nonsense-containing transcripts. EMBO J. 2001; 20:<br />
880-90.