An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria

By Hörtnagel Konstanze  

Human Molecular Genetics, Vol. 12, Iss. 3, 2003-02 ,pp. : 321-327

Oxford University Press

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Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

By Brunetti Dario   Dusi Sabrina   Morbin Michela   Uggetti Andrea   Moda Fabio   D'Amato Ilaria   Giordano Carla   d'Amati Giulia   Cozzi Anna   Levi Sonia   Hayflick Susan   Tiranti Valeria  

Human Molecular Genetics, Vol. 21, Iss. 24, 2012-12 ,pp. : 5294-5305

Oxford University Press

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Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice

By Chi Zai-Long   Akahori Masakazu   Obazawa Minoru   Minami Masayoshi   Noda Toru   Nakaya Naoki   Tomarev Stanislav   Kawase Kazuhide   Yamamoto Tetsuya   Noda Setsuko   Sasaoka Masaki   Shimazaki Atsushi   Takada Yuichiro   Iwata Takeshi  

Human Molecular Genetics, Vol. 19, Iss. 13, 2010-07 ,pp. : 2606-2615

Oxford University Press

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ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice

By Valdés-Sánchez Lourdes   De la Cerda Berta   Diaz-Corrales Francisco J.   Massalini Simone   Chakarova Christina F.   Wright Alan F.   Bhattacharya Shomi S.  

Human Molecular Genetics, Vol. 22, Iss. 8, 2013-04 ,pp. : 1507-1515

Oxford University Press

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Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice

By Haider N.B.   Naggert J.   Nishina P.M.  

Human Molecular Genetics, Vol. 10, Iss. 16, 2001-08 ,pp. : 1619-1626

Oxford University Press

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