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Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Fukuda-Yuzawa Y, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, Yoshida K. Doi H, et al. Among authors: baba t. Sci Rep. 2014 Nov 24;4:7132. doi: 10.1038/srep07132. Sci Rep. 2014. PMID: 25417924 Free PMC article.
p125/Sec23-interacting protein (Sec23ip) is required for spermiogenesis.
Arimitsu N, Kogure T, Baba T, Nakao K, Hamamoto H, Sekimizu K, Yamamoto A, Nakanishi H, Taguchi R, Tagaya M, Tani K. Arimitsu N, et al. Among authors: baba t. FEBS Lett. 2011 Jul 21;585(14):2171-6. doi: 10.1016/j.febslet.2011.05.050. Epub 2011 May 30. FEBS Lett. 2011. PMID: 21640725 Free article.
Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis.
Maruyama T, Baba T, Maemoto Y, Hara-Miyauchi C, Hasegawa-Ogawa M, Okano HJ, Enda Y, Matsumoto K, Arimitsu N, Nakao K, Hamamoto H, Sekimizu K, Ohto-Nakanishi T, Nakanishi H, Tokuyama T, Yanagi S, Tagaya M, Tani K. Maruyama T, et al. Among authors: baba t. Cell Death Dis. 2018 Jul 23;9(8):797. doi: 10.1038/s41419-018-0815-3. Cell Death Dis. 2018. PMID: 30038238 Free PMC article.
2,640 results