%0 Journal Article
%T Loss of ALS2/Alsin Exacerbates Motor Dysfunction in a SOD1H46R-Expressing Mouse ALS Model by Disturbing Endolysosomal Trafficking
%A Shinji Hadano
%A Asako Otomo
%A Ryota Kunita
%A Kyoko Suzuki-Utsunomiya
%A Akira Akatsuka
%A Masato Koike
%A Masashi Aoki
%A Yasuo Uchiyama
%A Yasuto Itoyama
%A Joh-E Ikeda
%J PLOS ONE
%D 2012
%I Public Library of Science (PLoS)
%R 10.1371/journal.pone.0009805
%X ALS2/alsin is a guanine nucleotide exchange factor for the small GTPase Rab5 and involved in macropinocytosis-associated endosome fusion and trafficking, and neurite outgrowth. ALS2 deficiency accounts for a number of juvenile recessive motor neuron diseases (MNDs). Recently, it has been shown that ALS2 plays a role in neuroprotection against MND-associated pathological insults, such as toxicity induced by mutant Cu/Zn superoxide dismutase (SOD1). However, molecular mechanisms underlying the relationship between ALS2-associated cellular function and its neuroprotective role remain unclear.
%U http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0009805