| 1 | MMYAT, MSTO1
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| Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy
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| Li K, Jin R, Wu X.
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| Eur J Med Genet. Jan;63(1):103623. doi: 10.1016/j.ejmg.2019.01.013. Epub 2019 Jan 24. 2020
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| 2 | MMYAT, MSTO1
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| MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
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| Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE.
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| Acta Neuropathol. Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29 2019
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| 3 | MMYAT, MSTO1
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| Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy
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| Iwama K, Takaori T, Fukushima A, Tohyama J, Ishiyama A, Ohba C, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Saitsu H, Mizuguchi T, Matsumoto N.
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| J Hum Genet. Mar;63(3):263-270. doi: 10.1038/s10038-017-0405-8. Epub 2018 Jan 16. 2018
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| 4 | MMYAT, MSTO1
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| MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans
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| Gal A, Balicza P, Weaver D, Naghdi S, Joseph SK, Várnai P, Gyuris T, Horváth A, Nagy L, Seifert EL, Molnar MJ, Hajnóczky G
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| EMBO Mol Med. Jul;9(7):967-984. doi: 10.15252/emmm.201607058. 2017
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| 5 | MMYAT, MSTO1
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| Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia
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| Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D.
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| Hum Mutat. Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6. 2017
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| 6 | MSTO1
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| Human Misato regulates mitochondrial distribution and morphology.
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| Kimura M, Okano Y.
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| Exp Cell Res 313(7):1393-404. Epub 2007 Feb 15.
2007
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