Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death

By Ugolino Janet   Fang Shengyun   Kubisch Christian   Monteiro Mervyn J.  

Human Molecular Genetics, Vol. 20, Iss. 18, 2011-09 ,pp. : 3565-3577

Oxford University Press

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A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein

By Gottfried I.  

Human Molecular Genetics, Vol. 11, Iss. 11, 2002-05 ,pp. : 1311-1316

Oxford University Press

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Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations

By Kelsell D.P.  

Human Molecular Genetics, Vol. 11, Iss. 17, 2002-06 ,pp. : 2005-2014

Oxford University Press

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IRE1 plays an essential role in ER stress-mediated aggregation of mutant huntingtin via the inhibition of autophagy flux

By Lee Huikyong   Noh Jee-Yeon   Oh Yumin   Kim Youngdoo   Chang Jae-Woong   Chung Chul-Woong   Lee Soon-Tae   Kim Manho   Ryu Hoon   Jung Yong-Keun  

Human Molecular Genetics, Vol. 21, Iss. 1, 2012-01 ,pp. : 101-114

Oxford University Press

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Endoplasmic reticulum stress and mitochondrial cell death pathways mediate A53T mutant alpha-synuclein-induced toxicity

By Smith Wanli W.   Jiang Haibing   Pei Zhong   Tanaka Yuji   Morita Hokuto   Sawa Akira   Dawson Valina L.   Dawson Ted M.   Ross Christopher A.  

Human Molecular Genetics, Vol. 14, Iss. 24, 2005-12 ,pp. : 3801-3811

Oxford University Press

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