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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis.
J. Neurol. 256, 1337-1342 (2009)
Amyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disease characterized by the selective death of motor neurons in the motor cortex, brain stem and spinal cord. Recently, missense variants in the angiogenin gene (ANG), an angiogenic factor expressed in ventral horn motor neurons that is up-regulated by hypoxia, have been found in ALS patients of Irish/Scottish, North American, Italian, French and Dutch descent. To investigate the role of ANG in the German population, we screened for mutations by sequencing the entire coding region of the ANG gene in a large sample of 581 German ALS cases and 616 sex- and age-matched healthy controls. We identified two heterozygous missense variants, F(-13)L and K54E, in two German sporadic ALS cases but not in controls. Both missense variants are novel and have not been previously found in ALS cases. Our results suggest that missense variants in the ANG gene play a role in ALS in the German population and provide further evidence to support the hypothesis that angiogenic factors up-regulated by hypoxia are involved in the pathophysiology of ALS.
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Angiogenin; Missense variant; Amyotrophic lateral sclerosis (ALS); mutations; als; diagnosis; survival; criteria; disease; protein; form
ISSN (print) / ISBN
0340-5354
e-ISSN
1432-1459
Zeitschrift
Journal of Neurology
Quellenangaben
Band: 256,
Heft: 8,
Seiten: 1337-1342
Verlag
Springer
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed