CareLit · DOI-Nachweis · Klinische Neurophysiologie
SPG3: Towards Understanding the Function of the Disease Protein Atlastin 1
DOI 10.1055/s-2004-831913
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Autor:innenA Abel, C Herrmann, G Auburger
ZeitschriftKlinische Neurophysiologie
Ausgabe08/2004
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Approximately 10% of all autosomal dominant spastic paraplegia cases are caused by mutations in the large GTPase atlastin 1. Atlastin 1 is a 558 aa transmembrane protein localized to the Golgi apparatus with both the large N-terminal GTPase domain and the short C-terminus being directed towards the cytoplasm. To date 19 missense mutations distributed throughout the protein and one frameshift mutation have been ident…
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Zitierempfehlung
A Abel, C Herrmann, G Auburger (2004) SPG3: Towards Understanding the Function of the Disease Protein Atlastin 1. Klinische Neurophysiologie (08). https://doi.org/10.1055/s-2004-831913
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